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Chong Ae Kim

Dados pessoais

  • HS Health Sciences
  • LS Life Sciences
  • MU Multidisciplinary
  • PS Physical Sciences
  • SH Social Sciences & Humanities
# Nome Links Grande Área Área
1 Alexander Augusto De Lima JORGE Ciências da Saúde Medicina
2 Ana Maria De Ulhôa ESCOBAR Ciências da Saúde Medicina
3 Anete Sevciovic GRUMACH Ciências da Saúde Medicina
4 Carla Gentile MATAS Ciências da Saúde Fonoaudiologia
5 Carlos Eduardo STEINER Ciências Biológicas Genética
6 Carmen Regla VARGAS Ciências da Saúde Medicina
7 Claudia Berlim De MELLO Ciências Humanas Psicologia
8 Claudia Da Costa LEITE Ciências da Saúde Medicina
9 Claudio LEONE Ciências da Saúde Medicina
10 Clovis Artur Almeida Da SILVA Ciências da Saúde Medicina
11 Crésio De Aragão Dantas ALVES Ciências da Saúde Medicina
12 Dafne Dain Gandelman HOROVITZ Ciências da Saúde Medicina
13 Débora Gusmão MELO Ciências da Saúde Medicina
14 Débora Romeo BERTOLA Ciências da Saúde Medicina
15 Decio BRUNONI Ciências Biológicas Genética
16 Erasmo Barbante CASELLA Ciências da Saúde Medicina
17 Francisco Baptista Assumpção JUNIOR Ciências da Saúde Medicina
18 Geraldo DUARTE Ciências da Saúde Medicina
19 José Luiz Dias GHERPELLI Ciências da Saúde Medicina
20 Juan Clinton Llerena JUNIOR Ciências da Saúde Medicina
21 Kette Dualibi Ramos VALENTE Ciências Biológicas Fisiologia
22 Luiz Renato Rodrigues CARREIRO Ciências Humanas Psicologia
23 Maria Cristina Triguero Veloz TEIXEIRA Ciências Humanas Psicologia
24 Paulo Alberto OTTO Ciências Biológicas Genética
25 Paulo Sérgio BOGGIO CpE Ciências Biológicas Fisiologia
26 Roberto GIUGLIANI CpE Ciências Biológicas Genética
27 Samira Saady MORHY Ciências da Saúde Medicina
28 Uenis TANNURI Ciências da Saúde Medicina
29 Umbertina Conti REED Ciências da Saúde Medicina
30 Vânia D ALMEIDA CpE Ciências Biológicas Bioquímica
31 Vera Lúcia Gil Da Silva LOPES Ciências Biológicas Genética
32 Vicente Odone FILHO Ciências da Saúde Medicina
Figura 1. Número de publicações por ano e por tipo, considerando todas as publicações.
  1. Life Sciences Genetics
    Maria Luisa Carpinetti TINOCO; Honjo Rachel S; Bertola D R; Adriano BONALDI; Angela Vianna MORGANTI et al. 2019. Clinical findings of 28 patients with the silver russell syndrome. In: Xxxi congresso brasileiro de genética médica. Brasil.
  2. Health Sciences Neurology (clinical)
    Bruno De Oliveira STEPHAN; Matheus Augusto Araújo CASTRO; Rodrigi Atique Ferraz De TOLEDO; Maria Rita Passos BUENO; Honjo Rachel S et al. 2019. Intracranial calcifications associated with rare monogenic disordes with skeletal involvement. In: Xxxi congresso brasileiro de genética médica. Brasil.
  3. Life Sciences Genetics
    Vanessa Figueiredo MONTELEONE; Maria Jose Rivadeneira OBANDO; Karla Tomáz FARIA; Andre Martins Dos SANTOS; Honjo R S et al. 2019. Three decades follow up of patients with williams-beuren syndrome: clinical findings and natural history. In: Xxxi congresso brasileiro de genética médica. Brasil.
  4. Social Sciences & Humanities Psychology (miscellaneous)
    Leticia Souza OLIVEIRA; Priscila PALOMO; Chong Ae KIM; Marcelo Marcos Piva DEMARZO. 2018. Mindfulness para mães de pessoas com deficiências. In: Vii congresso brasileiro de terapia cognitiva da infância e adolescência. Brasil.
  5. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Soares Diogo Cordeiro QUEIROZ; M MATTA; A DANTAS; A PASTORINO; L KULIKOWSKI et al. 2018. Natural killer cell abnormalities in patients with 22q11.2. In: 18th biennial meeting of the european society for immunodeficiencies ( esid 2018). Portugal.
  6. Health Sciences Medicine (miscellaneous)
    Leticia Souza OLIVEIRA; Priscila PALOMO; Vicente Sarubbi JUNIOR; Shirlene Aparecida LOPES; Daniela Rodrigues De OLIVEIRA et al. 2018. Efeitos do programa de promoção da saúde baseada em mindfulness(psbm) na qualidade de vida de familiares cuidadores de pacientes com a síndrome genética rara mucopolissacaridose. In: Xxx congresso brasileiro da sbgm/vii congresso brasileiro da sbteim. Brasil.
  7. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    N NUNES; Chong Ae KIM; Soares Diogo Cordeiro QUEIROZ; Meloni Vera A; Belangero Sintia NOGUEIRA et al. 2018. Next-generation sequencing (ngs) of nine candidate genes with custom ampliseq in 22q11.2 deletion syndrome. In: European human genetics conference. Itália.
  8. Life Sciences Neurology
    Veronica E H KIM; Ceroni José R M; P H S CASTRO; Caroline OLIVATI; Claudia BERLIM et al. 2018. Phenotype acessment of a brazilian cornelia de lange syndrome(cdls). In: European human genetics conference. Itália.
  9. Life Sciences Neuroscience (miscellaneous)
    S N CHEHIMI; F P MONTEIRO; F A R MADIA; Gil M Novo FILHO; A T DIAS et al. 2018. Investigating the cnvs in routine diagnostics using wes and array in brazilian patients. In: European human genetics conference. Itália.
  10. Life Sciences Genetics
    S ESTRELLA; Bertola Debora R; Yamamoto G L; Honjo R S; Ceroni JR et al. 2018. Overlapping phenotypes in patients harboring heterozygous mutations in kat6a and kat6b. In: European human genetics conference. Itália.
  11. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    F A R MADIA; A T DIAS; E A ZANARDO; J G DAMASCENO; A M NASCIMENTO et al. 2018. Molecular autopsy reveals clues for genetic basis of congenital valve defect . In: European human genetics conference. Itália.
  12. Life Sciences Genetics
    Anelisa Gollo DANTAS; Marcos L SANTORO; Chong Ae KIM; D C SOARES; V A MELONI et al. 2017. 22q11.2 deletion influences expression levels of hemizygous and normal copy number genes: possible disruption of cis and trans regulation. In: European human genetics conference. Dinamarca.
  13. Life Sciences Genetics
    Diogo C SOARES; Evelyn C NUNEZ; Cristiane J SANTOS; Antonio C PASTORINO; Anelisa G DANTAS et al. 2017. Lymphoproliferative disorde with hypogammaglobulinemia:an unsual presentation of 22q11.2 deletion syndrome. In: Latin america society for immunodeficiencise meeting (lasid). Brasil.
  14. Life Sciences Genetics
    R S GUILHERME; H R De Oliveira JÚNIOR; S BRAGAGNOLO; M A RAMOS; A B PEREZ et al. 2017. Deletion; duplication and ring of chromosome 13 due to different rearrangements and implication to phenotype. In: European society of human genetics 2017. Dinamarca.
  15. Health Sciences Pediatrics, Perinatology and Child Health
    Cristina Nunez VACA; Sofia Ortiz SALDANA; Diana Salazar BERMEOS; Santiago Estreela BENAVIDES; Gustavo Marquezani SPOLADOR et al. 2017. Neonatal form with severe cardiac manifestation in an infant with rapidly progressing phenotype of mucopolysaccharidosis type vi. In: 13th international congress of inborn errors of metabolism (iciem). Brasil.
  16. Health Sciences Genetics (clinical)
    Gustavo M SPOLADOR; Sofia O SALDANA; Diana S BERMEO; Cristina N VACA; Santiago E BENAVIDES et al. 2017. Early diagnosis of rivoflavin transporte deficiency and therapeutic management -a case report. In: 13th international congress of inborn errors of metabolism (iciem). Brasil.
  17. Health Sciences Genetics (clinical)
    Sofia O SALDANA; Diana S BERMEO; Rachel S HONJO; Cristina N VACA; Debora R BERTOLA et al. 2017. Mevalonate kinase deficiency syndrome: a case report. In: 13th international congress of inborn errors of metabolism (iciem). Brasil.
  18. Life Sciences Neurology
    Holguer Santiago Estrella BENAVIDES; D R BERTOLA; C N VACA; R S HONJO; G L YAMAMOTO et al. 2017. Doors: a dysmorphic and syndromic sensoneural deafness caused by 2-ketoglutarate dehydrogenase deficiency. In: 13th international congress of inborn errors of metabolism (iciem). Brasil.
  19. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; C B MELLO; L S E PIMENTA; L M BENEDETTO; E C N VACA et al. 2017. Cri du chat syndrome: characteristics of 69 brazilian patients. In: Ashg 2017. Estados Unidos.
  20. Life Sciences Neurology
    W A R BARATELA; H HIJAZI; C M B CARVALHO; G L YAMAMOTO; S S COSTA et al. 2017. Small 17p13.3 suplication including bhlha9 in a brazilian familly with incomplete penetrance of split-hand/foot malformation. In: Ashg 2017. Estados Unidos.
  21. Health Sciences Genetics (clinical)
    T V M M COSTA; F A MARCHI; C MILANI; J G DAMASCENO; F A R MADIA et al. 2017. Dna methylation profiles in a cohort of brazilian children with adhd. In: Ashg 2017. Estados Unidos.
  22. Health Sciences Medicine (miscellaneous)
    Far MADIA; A T DIAS; E A ZANARDO; J G DAMASCENO; M ROCHA et al. 2017. Post-mortem cytogenomic study of brazilian patients reveals the cnvs connection to complex congenital heart defects. In: Ashg 2017. Estados Unidos.
  23. Life Sciences Neuroscience (miscellaneous)
    S N CHEHIMI; E A ZANARDO; J R M CERONI; F A R MADIA; G M Novo FILHO et al. 2017. Breakpoint mapping in five brazilian cases of distal 5p deletion:influence of copy number variable regions and haploinsufficiency to clinical phenotype. In: Ashg 2017. Estados Unidos.
  24. Life Sciences Genetics
    E A ZANARDO; G M Novo FILHO; M M MONTENEGRO; A S BRASIL; S N CHEHIMI et al. 2017. Cnvs from whole exome sequencing and array: first comparative study in a brazilian clinical cohort. In: Ashg 2017. Estados Unidos.
  25. Life Sciences Neurology
    W A R BARATELA; H HIJAZI; C M B CARVALHO; G L YAMAMOTO; S S COSTA et al. 2017. Small 17p13.3 duplication including bhlha9 in a brazilian family with incomplete penetrance of split-hand/foot malformation. In: Ashg 2017. Estados Unidos.
  26. Health Sciences Medicine (miscellaneous)
    Honjo R S; J R M CERONI; P H S CASTRO; J G SALOMAO; S P O SALDANA et al. 2017. Cardiologic findings in 101 patients with williams syndrome. In: Ashg 2017. Estados Unidos.
  27. Life Sciences Genetics
    Bertola D R; G HSIA; L ALVIZI; A GARDHAM; G L YAMAMOTO et al. 2017. Phenotypic and genotypic spectrum in richieri-costa-pereira syndrome. In: Ashg 2017. Estados Unidos.
  28. Life Sciences Genetics
    B L FREIRE; T K HOMMA; M FUNARI; A MALAQUIAS; R HONJO et al. 2017. Genomic approaches to investigate children born small for gestatioal age (sga) without catch up-growth. In: Ashg 2017. Estados Unidos.
  29. Life Sciences Genetics
    P CASTRO; R HONJO; G LOPES; L ALBANO; S SUGAYAMA et al. 2017. Clinical and genetic characteristics of seven patients with floating-harbor syndrome. In: Ashg 2017. Estados Unidos.
  30. Social Sciences & Humanities Education
    Julia G SALOMAO; Caroline OLIVATI; J R M CERONI; G L YAMAMOTO; R S HOMJO et al. 2017. Estuo de novos genes associados às rasopatias pelo sequenciamento de nova geração. In: Xxix congresso brasileiro de genética médica. Brasil.
  31. Life Sciences Neuroscience (miscellaneous)
    A OLIVATI; L C TESTAI; Julia G SALOMAO; J R M CERONI; W A R BARATELA et al. 2017. Estudo molecular de pacientes com anomalias de segmentação vertebral. In: Xxix congresso brasileiro de genética médica. Brasil.
  32. Health Sciences General Medicine
    R S HONJO; Claudia Berlim De MELLO; L S E PIMENTA; Luciana De Melo De BENEDETTO; Regia Bernardes Ferreira KHOURY et al. 2017. Perfil dos pacientes com a síndrome de cri-du-chat: levantamento de 70 questionários. In: Xxix congresso brasileiro de genética médica. Brasil.
  33. Life Sciences Genetics
    J R M CERONI; R S HONJO; G L YAMAMOTO; Vera Lucia Jornada KREBS; Maria Esther Jurfest Rivero CECCON et al. 2017. Avaliação genética em berçario de alta complexidade-experiência de 33 meses. In: Xxix congresso brasileiro de genética médica. Brasil.
  34. Health Sciences Genetics (clinical)
    Chong Ae KIM; Diogo C SOARES; Lilian M J ALBANO; R S HONJO; Stephanie P PEGLER et al. 2016. Clinical and laboratory evaluation of patients with mucopolysaccharidosis types i;ii and vi rceiving enzyme replacement therapy (ert). In: 13th international congress of human genetics. Japão.
  35. Life Sciences Neuroscience (miscellaneous)
    A G DANTAS; Diego R MAZZOTTI; Vanessa K OTA; Adriana BORTOLAI; Marcos L SANTORO et al. 2016. Possible disruption of cis and trans regulation due to 22q11.2 deletion. In: 13th international congress of human genetics. Japão.
  36. Life Sciences Genetics
    Melaragno Maria ISABEL; Mariana Moyses OLIVEIRA; Mileny S COLOVATI; Sylvia S TAKENO; Helio R Oliveira JÚNIOR et al. 2016. Chromosomal microarray(cma) in brazilian patients with phenotypic alterations and normal g-banding karyotypes. In: 13th international congress of human genetics. Turquia.
  37. Health Sciences Neurology (clinical)
    Evelin A ZANARDO; Gil M Novo FILHO; Marilia M MONTENEGRO; Alexandre T DIAS; Thais V COSTA et al. 2016. Cnvs assessment by whole exome sequencing in patients with multiple congenital malformations and developmental delay. In: 13th international congress of human genetics. Japão.
  38. Life Sciences Genetics
    G L YAMAMOTO; Carolina MALCHER; Wagner A R BARATELA; Rossana VIERA; Marco Antonio LOPES et al. 2016. Next-generation sequencing approach in skeletal dysplasias with prenatal onset: experience of a tertiary center in brazil. In: 13th international congress of human genetics. Japão.
  39. Health Sciences Medicine (miscellaneous)
    Flavia Balbo PIAZZON; A DIAS; E ZANARDO; Gil Monteiro Novo FILHO; M MONTENEGRO et al. 2016. Investigação citogenômica em pacientes com atraso de desenvolvimento neuropsicomotor associado à malformação congênita. In: Xxviii congresso brasileiro de genética médica. Brasil.
  40. Health Sciences Medicine (miscellaneous)
    G L YAMAMOTO; Wagner A R BARATELA; Carolina MALCHER; Rossana VIEIRA; Marco Antonio LOPES et al. 2016. Sequenciamento de nova geração em displasias esqueléticas de início pré-natal:experiência de um centro terciário. In: Xxviii congresso brasileiro de genética médica. Brasil.
  41. Life Sciences Neuroscience (miscellaneous)
    Lilian M J ALBANO; Honjo Rachel SAYURI; Michele M NUNES; Kulikowski Leslie D; Stephenie Pucci PEGLER et al. 2016. A musical pathway to improve some cognitive functions in williams syndrome. In: Xxviii congresso brasileiro de genética médica. Brasil.
  42. Life Sciences Genetics
    Pedro Henrique Santana CASTRO; Sofia M M SUGAYAMA; Honjo Rachel S; Yamamoto Guilherme L; L M J ALBANO et al. 2016. Análise das características clínicas e genética em pacientes com síndrome de silver russell. In: Xxviii congresso brasileiro de genética médica. Brasil.
  43. Life Sciences Genetics
    Diogo C Q SOARES; Kyungsoo HA; Priya ANAND; Jennifer A LEE; Julie R JONES et al. 2016. Molecular and phenotypic characterization of brazilian patients with sotos syndrome. In: Xxviii congresso brasileiro de genética médica. Brasil.
  44. Life Sciences Genetics
    Diogo C Q SOARES; S M M SUGAYAMA; S P PEGLER; G L YAMAMOTO; R S HONJO et al. 2016. Radiologial findings of nine brazilian patients with mucopolysaccharidosis type iv. In: Xxviii congresso brasileiro de genética médica. Brasil.
  45. Life Sciences Genetics
    J F Da Silva FRANCO; Diogo C SOARES; S P PEGLER; Honjo Rachel S; Chong Ae KIM. 2016. Clinical and laboratory evaluation of patients with mucoplysaccharidose type i;ii and vi receiving enzyme replacement therapy (ert). In: Xxviii congresso brasileiro de genética médica. Brasil.
  46. Health Sciences Genetics (clinical)
    A T DIAS; E A ZANARDO; F A R MADIA; Thais Moura Machado COSTA; Cintia MILANI et al. 2016. Estratégia diagnóstica combinada para a caracterização molecular de pacientes com suspeita de distrofia muscular de duchenne. In: Xxviii congresso brasileiro de genética médica. Brasil.
  47. Life Sciences Genetics
    I SCHWARTZ; F Sperb LUDWIG; R VOLTOLININI; A ACOSTA; E RIBEIRO et al. 2016. Expanding the genotyping spectrum of mucolipidosis ii and iii alpha/beta in brazil. In: 14th international symposium on mps and related diseases. Alemanha.
  48. Health Sciences Genetics (clinical)
    J F S FRANCO; D C Q SOARES; L M J ALBANO; R S HONJO; D R BERTOLA et al. 2016. Enzyme replacement therapy (ert) in 27 brazilian patients with mucopolysaccharidosis (mps) types i;ii and vi. In: 14th international synposium on mps and related diseases. Alemanha.
  49. Health Sciences Infectious Diseases
    C De SOUZA; A De BOER; F VAIRO; D HOROVITZ; Chong Ae KIM et al. 2016. Hematopoietic stem cell tranplantation for mps i: experience of three brazilian centers. In: 14th international symposium on mps and realted diseases. Alemanha.
  50. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; D C SOARES; L M J ALBANO; R S HONJO; D R BERTOLA et al. 2016. Surgical procedures and anesthetic complications in 27 brazilian patients wth mucoplolysaccharidosis (mps) types i; ii and vi. In: American society of human genetics 66th annua meeting. Canadá.
  51. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    C H CHUNG; R S HONJO; D R BERTOLA; Chong Ae KIM. 2016. Clinical features of 28 patients with presumptive diagnosis of pik3ca related overgrowth spectrum (pros) in a tertiary hospital in brazil. In: American society of human genetics 66th annual meeting. Canadá.
  52. Health Sciences Genetics (clinical)
    R S HONJO; J R M CERONI; M R Passos BUENO; G L YAMAMOTO; Chong Ae KIM. 2016. Chime syndrome with pigl mutations: description of a brazilian case. In: American society of human genetics 66th annual meeting. Canadá.
  53. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Montenegro Marilia M; Novo Filho Gil MONTEIRO; Alexandre Torchio DIAS; Zanardo Évelin ALINE; Dutra Roberta L et al. 2015. Transcriptome analysis by rna­seq in bloom's syndrome reveals genes associated to regulation of immune pathways. In: The european human genetics conference. Brasil.
  54. Life Sciences Genetics
    Anelisa G DANTAS; D MAZZUTTI; A BORTOLAI; Mileny COLOVATI; Roberta S GUILHERME et al. 2015. Evaluation of gene expression and cytogenomic study in patients with 22q11.2 deletion. In: 10th european cytogenetics conference 2015. França.
  55. Life Sciences Genetics
    Milleny E S COLOVAN; Silvia BRAGAGNOLO; Roberta S GUILHERME; Anelisa G DANTAS; Maria De Fatima SOARES et al. 2015. Cytogenomic investigation in patients with oculocuriculovertebral spectrum (oavs) and candidate loci relevant to phenotype. In: 10th european cytogenetics conference 2015. França.
  56. Life Sciences Genetics
    D R BERTOLA; Lucas ALVIZI; Gabriella HSIA; Renata Di FRANCESCO; Larissa ATHAYDE et al. 2015. Phenotypic spectrum in richieri-costa-pereira syndrome. In: 12th isds meeting istanbul 2015. Turquia.
  57. Health Sciences Pediatrics, Perinatology and Child Health
    Wagner Antonio Da Rosa BARATELA; Guilherme L YAMAMOTO; Luiz OLIVEIRA; Rachel S HONJO; Chong Ae KIM et al. 2015. Case report: a 2 yo brazilian girl with an usual form of rhizomelic chondrodysplasia punctata. In: 12th international skeletal dysplasia society meeting (isds) 2015. Brasil.
  58. Life Sciences Genetics
    G L YAMAMOTO; Larissa TESTAI; Christine H CHUNG; Wagner A R BARATELA; R HONJO et al. 2015. Compound heterozygote with mosaic variant: brodening the phenotypic spectrum of ciliopathies associated with dyn2h1. In: 12th international skeletal dysplasia society meeting-2015. Turquia.
  59. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; J FRANCO; Leuridan TORRES; R HONJO; Bertola Debora R et al. 2015. Early enzyme replacement therapy in mucopolysaccharidosis vi: results pf a long term follow-up of brazilian sibilings. In: 12th international skeletal dysplasia society meeting -2015. Turquia.
  60. Health Sciences Genetics (clinical)
    Diogo Cordeiro De Queiroz SOARES; Mariana Nascimento STROPARO; Yu C LIAN; Cristina Yuri TAKAKURA; Sabrina WOLF et al. 2015. Ceratite herpetiforme e hiperqueratose palmoplantar: alerta para o diagnóstico de tirosinemia tipo ii. In: Xxvii congresso brasileiro de genética médica. Brasil.
  61. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM. 2014. Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period. In: 64th american society of human genetics. Estados Unidos.
  62. Physical Sciences Biomedical Engineering
    Chong Ae KIM. 2014. Use of mlpa of buccal smear for pallister-killian diagnosis. In: 64th american society of human genetics. Estados Unidos.
  63. Health Sciences Genetics (clinical)
    José FRANCO; Diogo Cordeiro De Queiroz SOARES; J Correa NETO; Gabriela N LEAL; Rachel Sayuri HONJO et al. 2014. Avaliação clínica e laboratorial de pacientes com mucopolissacaridose em terapia de reposição enzimática. In: Xxvi congresso brasileiro de genética médica. Brasil.
  64. Health Sciences Medicine (miscellaneous)
    Stephanie P PEGLER; Diogo Cordeiro De Queiroz SOARES; Larissa Athayde COSTA; Guilherme Lopes YAMAMOTO; Rachel Sayuri HONJO et al. 2014. Displasia imuno-óssea de schimke: aspectos clínicos e moleculares de duas crianças brasileiras. In: Xxvi congresso brasileiro de genética médica. Brasil.
  65. Health Sciences Genetics (clinical)
    Leuridan C TORRES; Diogo Cordeiro De Queiroz SOARES; José FRANCO; Chong Ae KIM. 2014. Immunological abnormalities in a family with mucopolysaccharidosis type ii with a de novo missense mutation in the iduronate 2-sulfatase gene. In: 13th international mps symposium and related diseases. Brasil.
  66. Life Sciences Genetics
    Diogo Cordeiro De Queiroz SOARES; Leuridan Cavalcante TORRES; Chong Ae KIM. 2014. Nk and b cell deficiency in a family with mps type ii with a de novo missense mutation in the ids gene. In: Iv international symposium on primary immunodeficiencies. Brasil.
  67. Life Sciences Animal Science and Zoology
    M COLOVATI; S BRAGAGNOLO; R S GUILHERME; A G DANTAS; Chong Ae KIM et al. 2014. Copy number variation in oculoauriculovertebral spectrum. In: Ashg. Estados Unidos.
  68. Life Sciences Genetics
    S BRAGAGNOLO; M E S COLOVATI; R S GUILHERME; A G DANTAS; Chong Ae KIM et al. 2014. Genotype-phenotype correlation in 12 patients with oculoauriculovertebral spectrum. In: Ashg. Estados Unidos.
  69. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; L COSTA; S PEGLER; R LELIS; V KREBS et al. 2014. Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period. In: Ashg. Estados Unidos.
  70. Life Sciences Genetics
    M M MONTENEGRO; G M Novo FILHO; E A ZANARDO; R L DUTRA; A T DIAS et al. 2014. Transcriptome applied to a bloom syndrome:immunological insights. In: Ashg. Estados Unidos.
  71. Health Sciences Genetics (clinical)
    C MILANI; T V M M COSTA; M M MONTENEGRO; G M Novo FILHO; E A ZANARDO et al. 2014. Dna methylation profiles of ten patients with attention deficit hyperactivity disorder: a proof-of-principle study. In: Ashg. Estados Unidos.
  72. Life Sciences Neuroscience (miscellaneous)
    Larissa Salustiano Evangelista PIMENTA; Kulikowski Leslie DOMENICI; Vera Freitas Aires MELONI; Claudia Berlim De MELLO; Orlando Francisco Amodeo BUENO et al. 2014. Estudo do fenétipo neurocognitivo na síndrome de deleção 22q11.2: desempenho intelectual e memória operacional em uma amostra pediátrica. In: V reunião anual do instituto brasileiro de neuropsicologia e comportamento e i congresso norte-nordeste de neurociências e comportamento. Brasil.
  73. Life Sciences Genetics
    A BORTOLAI; A G DANTAS; S S TAKENO; M M OLIVEIRA; A N X PACANARO et al. 2013. Cytogenomic characterization of an unexpected 4q microdeletion associated to a 2p microduplication in a dysmorphic patient presenting normal karyotype. In: 3a reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  74. Physical Sciences Artificial Intelligence
    M M MONTENEGRO; E A ZANARDO; R L DUTRA; F B PIAZZON; A T DIAS et al. 2013. Mechanism for rearrangements in 22q11.2 associated with wide spectrum phenotype. In: Reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  75. Life Sciences Genetics
    V A MELONI; R S GUILHERME; S S TAKENO; M M OLIVEIRA; F T LIMA et al. 2013. Chromosome 18p deletion syndrome: clinical and cytogenomic evaluation of eight patients. In: 3a reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  76. Life Sciences Neuroscience (miscellaneous)
    H R Oliveira JÚNIOR; R S GUILHERME; S BRAGAGNOLO; M A RAMOS; A B PEREZ et al. 2013. Deletion; duplication and ring of chromosome 13 and their implication to phenotype. In: 3a reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  77. Life Sciences Genetics
    A T DIAS; E A ZANARDO; R L DUTRA; M M MONTENEGRO; G M Novo FILHO et al. 2013. Cytogenomic delineationof a complex rearrangement involving chromosomes 9;15; 18 and x associated with grave´s disease. In: 3a reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  78. Health Sciences Medicine (miscellaneous)
    E A ZANARDO; T V M M COSTA; F B PIAZZON; A T DIAS; R L DUTRA et al. 2013. Challenges in the implantation of snp-arrays analysis in research and diagnostic. In: 3a reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  79. Life Sciences Genetics
    G M Novo FILHO; E A ZANARDO; R L DUTRA; F B PIAZZON; A T DIAS et al. 2013. The role of genomic copy number variation (cnvs) in congenital heart disease. In: 3a reunião brasileira de citogenética e iv simpósio latino-americano de citogenética e evolução. Brasil.
  80. Health Sciences Medicine (miscellaneous)
    Samantha V KELMANN; C R D C QUAIO; Nilton S Rosa NETO; Charles Marques LOURENÇO; Rute LELLIS et al. 2013. Estudo multicêntrico em diagnóstico da doença de fabry em registros de biópsias de angioqueratomas. In: Xxv congresso brasileiro de genética médica. Brasil.
  81. Health Sciences Medicine (miscellaneous)
    Rachel S HONJO; Roberta L DUTRA; Leslie D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM. 2013. Detecção da microdeleção 7q11.23 por mlpa e estudo clínico de pacientes em síndrome de williams-beurene. In: Xxv congresso brasileiro de genética médica. Brasil.
  82. Health Sciences Medicine (miscellaneous)
    Roberta L DUTRA; E A ZANARDO; G M Novo FILHO; M I MELARAGNO; Llerena Juan C et al. 2013. Estudo multicêntrico de diagnóstico molecular por mlpa em pacientes com múltiplas anomalias congênitas e deficiência intelectual. In: Xxv congresso brasileiro de genética médica. Brasil.
  83. Health Sciences Genetics (clinical)
    F B PIAZZON; A T DIAS; E A ZANARDO; R L DUTRA; M M MONTENEGRO et al. 2013. Passos diretos para o diagnóstico genético: diretrizes e algoritmo de investigação citogenômica em portadores de doenças raras. In: Xxv congresso brasileiro de genética médica. Brasil.
  84. Health Sciences Genetics (clinical)
    Diogo Cordeiro De Queiroz SOARES; Chong Ae KIM; Leuridan Cavalcante TORRES. 2013. Humoral immune deficiency in patient with mucopolysaccharidoses type iv. In: Iv international symposium on primary immunodeficiencies. Brasil.
  85. Health Sciences Cardiology and Cardiovascular Medicine
    Leslie Domenici KULIKOWSKI; Evelin Aline ZANARDO; Roberta Lelis DUTRA; Flavia Balbo PIAZZON; Alexandre Torchio DIAS et al. 2013. Cytogenomic diagnosis of congenital heart diseases. In: 9th european cytogenetics conference. Irlanda.
  86. Health Sciences Medicine (miscellaneous)
    A T DIAS; Roberta Lelis DUTRA; E A ZANARDO; F B PIAZZON; M B MOREIRA et al. 2012. Characterizing pervasive somatic mosaicism in pos-mortem tissues samples. In: Ii encontro pauslista de citogenética (epacito). Brasil.
  87. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    E A ZANARDO; F PIAZZON; Roberta Lelis DUTRA; A T DIAS; M M OLIVEIRA et al. 2012. Complex genomic reorganization in 1p36 and molecular mechanisms for formation. In: Ii encontro paulista de citogenética (epacito). Brasil.
  88. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Diogo Cordeiro De Queiroz SOARES; Leuridan Cavalcante TORRES; L D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM. 2012. Importante papel dos genes sna29; lztr1 e p2rxl1 na regulação da resposta imune de portadora de deleção atípica da região 22q11.2. In: 12o congresso brasileiro de alergia e imunologia em pediatria. Brasil.
  89. Life Sciences Neurology
    G L YAMAMOTO; A BONALDI; A M Vianna MORGANTE; I GOMMY; Chong Ae KIM et al. 2012. External validation of the bartholdi clinical acoring system for silver russell syndrome: a report of a brazilian cohort. In: 62nd annual meeting of the american society of human genetics. Brasil.
  90. Life Sciences Genetics
    W A R BARATELA; T F ALMEIDA; G L YAMAMOTO; J H MARQUES; O LETAIL et al. 2012. Severe chst3 mutations in two brazilian families with spondyloepiphyseal dysplasia with congenital joint dislocations. In: 62nd annual meeting of the american society of human genetics. Brasil.
  91. Social Sciences & Humanities Psychology (miscellaneous)
    C QUAIO; A S BRASIL; A C PEREIRA; Chong Ae KIM; Debora Romeo BERTOLA. 2012. Tegumentary manifestations in rasopathies are common and deserve special attentiono. In: 62nd annual meeting of the american society of human genetics. Brasil.
  92. Health Sciences Genetics (clinical)
    E D F CARVALHO; M LAZAR; T F ALMEIDA; C R D C QUAIO; G L YAMAMOTO et al. 2012. Schinzel-giedion syndrome in two brazilian patients: report of a novel mutation in setbp1. In: 62nd annual meeting of the american society of human genetics. Brasil.
  93. Health Sciences Neurology (clinical)
    T F ALMEIDA; D V BERNARDO; C R D C QUAIO; G L YAMAMOTO; E D F CARVALHO et al. 2012. Patterns of genetic expression in mental retardation associated or not with microcephaly. In: 62nd annual meeting of the american society of human genetics. Brasil.
  94. Life Sciences Genetics
    L D KULIKOWSKI; F PIAZZON; E ZANARDO; R DUTRA; A DIAS et al. 2012. Complex genomic reorganization in microdeletions/microduplications syndromes and molecular mechanisms for formation. In: 62nd annual meeting of the american society of human genetics. Estados Unidos.
  95. Physical Sciences Biomedical Engineering
    F B PIAZZON; R DUTRA; E ZANARDO; A DIAS; M MOREIRA et al. 2012. Facing current diagnostic challenges in array copy number analysis. In: 62nd annual meeting of the american society of human genetics. Estados Unidos.
  96. Life Sciences Neurology
    C D ANGELO; I KOHL; C De CASTRO; Chong Ae KIM; D R BERTOLA et al. 2012. Array-based copy number analysis in patients associating obesity and developmental delay/learning disabilities and additional features. In: 62nd annual meeting of the american society of human genetics. Estados Unidos.
  97. Life Sciences Genetics
    J MAZZEU; H KAYSERILLI; Chong Ae KIM; D BRUNONI; P C PIERI et al. 2012. Novel ror2 mutations in patients with autosomal recessive robinow syndrome. In: 62nd annual meeting of the american society of human genetics. Estados Unidos.
  98. Health Sciences Medicine (miscellaneous)
    E A FURUZAWA; Rachel S HONJO; C S LANETZKI; R L DUTRA; L D KULIKOWSKI et al. 2012. Hipertensão arterial e distúrbios miccionais em pacientes com síndrome de williams-beuren. In: Xxvi congresso brasileiro de nefrologia. Brasil.
  99. Health Sciences Genetics (clinical)
    Leuridan Cavalcante TORRES; Caio Robledo QUAIO; José FRANCO; Israel GOMY; Debora Romeo BERTOLA et al. 2012. Natural killer cell deficiency in patients with mucopolysaccharidoses. In: 15th esid biennial meeting. Itália.
  100. Health Sciences Medicine (miscellaneous)
    Leuridan Cavalcante TORRES; Diogo Cordeiro De Queiroz SOARES; Caio Robledo D C QUAIO; José FRANCO; Leslie Domenici KULIKOWSKI et al. 2012. Mucopolyssaccharidoses type iv: case of a patient with humoral response deficiency. In: 15th esid biennial meeting. Itália.
  101. Life Sciences Genetics
    Roberta Lelis DUTRA; Rachel Sayuri HONJO; Fernanda Andrade Macaferri FONSECA; Patrícia PIERI; D R BERTOLA et al. 2011. Microsatellite markers and multiplex ligation-dependent probe amplification (mlpa): diagnosis tests for williams-beuren syndrome. In: European human genetics. Holanda.
  102. Life Sciences Neurology
    D R BERTOLA; G L YAMAMOTO; L A N OLIVEIRA; Chong Ae KIM; G NISHIMURA et al. 2011. Severe short-limb dwarfism resembling grebe chondrodysplasia: report of a third case of the teebi-al-awadi-opitz-spranger dysplasia and exclusion of gdf5 as the causative gene. In: European human genetics. Holanda.
  103. Life Sciences Genetics
    Roberta Lelis DUTRA; F B PIAZZON; A T DIAS; M B MOREIRA; A C Zandoná TEIXEIRA et al. 2011. Diagnóstico citogenômico de um paciente com síndrome de williams-beuren e duplo y. In: 2a reunião brasileira de citogenética. Brasil.
  104. Life Sciences Genetics
    E A ZANARDO; M B MOREIRA; A T DIAS; A C Zandoná TEIXEIRA; E M VICENTE et al. 2011. Duplicação 22q13.3 pura: estudo citogenético molecular e correlação genótipo-fenótipo. In: 2a renião brasileiira de citogenética. Brasil.
  105. Health Sciences General Medicine
    A C Zandoná TEIXEIRA; Roberta Lelis DUTRA; A T DIAS; E M VICENTE; E A ZANARDO et al. 2011. Estudo clínico e citogenético-molecular de um caso de síndrome de down atípico. In: 2a renião brasileira de citogenética. Brasil.
  106. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    G M Novo FILHO; E M VICENTE; A T DIAS; A C Zandoná TEIXEIRA; E A ZANARDO et al. 2011. Identificação de cromossomo marcador de novo derivado de 9p: estudo citogenético-molecular e correlação genótipo-fenótipo. In: 2a reunião brasileira de citogenética. Brasil.
  107. Life Sciences Genetics
    E M VICENTE; G M Novo FILHO; E A ZANARDO; M B MOREIRA; A T DIAS et al. 2011. Duplicação parcial 7p envolvendo o gene twist associada a anormalidades esqueléticas:estudo citogenético-molecular. In: 2a reunião brasileira de citogenética. Brasil.
  108. Life Sciences Genetics
    M B MOREIRA; E A ZANARDO; A T DIAS; A C Zandoná TEIXEIRA; E M VICENTE et al. 2011. Primeiro caso de cromossomo 10 derivado; herdado como produto de uma fissão centromérica materna. In: 2a reunião brasileira de citogenética. Brasil.
  109. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    M M OLIVEIRA; T I MANCINI; S S TAKENO; A R N DUTRA; Perez A B A et al. 2011. Interpretação de arrays genômicos de pacientes com rearranjos cromossômicos aparentemente equilibrados. In: 2a reunião brasileira de citogenética. Brasil.
  110. Life Sciences Genetics
    L D KULIKOWSKI; A T DIAS; D M CHRISTOFOLINI; Roberta Lelis DUTRA; Chong Ae KIM et al. 2011. Citogenética molecular no diagnóstico de cromossomos marcadores supernumerários: utilização das técnicas de snp-array e mlpa. In: 2a reunião brasileira de citogenética. Brasil.
  111. Social Sciences & Humanities Neuropsychology and Physiological Psychology
    Tatiana Ferreira ALMEIDA; Danilo Vicensotto BERNARDO; Debora Romeo BERTOLA; Chong Ae KIM. 2011. Relação entre perímetro cefálico e estatura como indicadora de atraso neuropsicomotor ou deficiência intelectual em indivíduos com microcefalia. In: Xxiii congresso brasileiro de genética médica. Brasil.
  112. Health Sciences Medicine (miscellaneous)
    E D F CARVALHO; Israel GOMY; H C Menezes FILHO; A C A VILELA; M MOREIRA et al. 2011. Calcificação arterial generalizada da infância: relato de caso de um paciente em tratamento com pamidronato. In: Xxiii congresso brasileiro de genética médica. Brasil.
  113. Life Sciences Genetics
    Evelin Aline ZANARDO; Flavia B PIAZON; Gil M Novo FILHO; Roberta L DUTRA; Alexandre T DIAS et al. 2011. Recurrent infections in a patient with a 22q11.2 duplication detected by mlpa technique: a non pathogenic polymorphism or a real syndrome?. In: Iii simpósio interacional de imunodeficiências primárias. Brasil.
  114. Health Sciences Medicine (miscellaneous)
    Debora Romeo BERTOLA; A S BRASIL; Alexander A L JORGE; A C MALAQUIAS; Luciana T WANDERLEY et al. 2010. Cardiac findings in 61 noonan syndrome patients with proven mutations in genes of the ras/mapk signaling pathway. In: European human genetics conference 2010. Suécia.
  115. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM; Francisco B Assumpção JUNIOR; Rachel Sayuri HONJO; Roberta Lelis DUTRA; Vera A S AMARAL et al. 2010. High frequency of autistic traits in williams-beuren patients. In: European human genetics conference 2010. Suécia.
  116. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Maria Isabel MELARAGNO; V A F MELONI; Chong Ae KIM; Rachel Sayuri HONJO; D M CHRISTOFOLINI et al. 2010. Mechanisms of ring chromosome formation. In: European human genetics conference 2010. Suécia.
  117. Life Sciences Genetics
    Isabel Mosca FURQUIM; Rachel Sayuri HONJO; C M LOURENÇO; T MAUAD; D R BERTOLA et al. 2010. First brazilian case of lysinuric protein intolerance (lpi). In: European human genetics conference 2010. Suécia.
  118. Health Sciences Genetics (clinical)
    Dafne HOROVITZ; T P C MAGALHÃES; A ACOSTA; E M RIBEIRO; L GIUGLIANI et al. 2010. Enzyme replacement therapy in 25 mucopolyssaccharidosis type vi brazilian children under five years. In: 11th international symposium on mucopolysaccharide and related diseases. Austrália.
  119. Health Sciences Pediatrics, Perinatology and Child Health
    G N LEAL; Ana Carolina PAULA; Chong Ae KIM. 2010. Replacement therapy in mucopolysaccharidosis typi vi: advantages of early onset of treatment regarding cardiac involvement. In: 11th international symposium on mucopolysaccharide and related disease. Austrália.
  120. Life Sciences Genetics
    L D KULIKOWSKI; M YOSHIMOTO; C M MONMA; F T S BELLUCCO; S I N BELANGERO et al. 2010. Genotype-phenotype delineation of terminal deletions 18q demonstrating high phenotypic variability. In: European human genetics conference 2010. Suécia.
  121. Health Sciences Medicine (miscellaneous)
    F S JEHEE; D R BERTOLA; Chong Ae KIM; J F LUCATELLI; M R Passo BUENO. 2009. Triagem de microdeleções e alterações subteloméricas por mlpa aumenta em 20% a detecção de anomalias cromossômicas em pacientes com malformações congênitas. In: Xxi congresso brasileiro de genética médica. Brasil.
  122. Life Sciences Genetics
    Isabel Mosca FURQUIM; A S BRASIL; L T WANDERLEY; A C PEREIRA; A C MALAQUIAS et al. 2009. Mutação no gene sos1 em pacienteas com síndrome de noonan/lesões múltiplas de células gigantes. In: Xxi congresso brasileiro de genética médica. Brasil.
  123. Health Sciences Genetics (clinical)
    I V SCHWARTZ; G K CURY; O ARTIGALÁS; U MATTE; Charles M LOURENÇO et al. 2009. Identificação de mutações no gene gnptab em pacientes brasileiros com mucolipidose ii e iii. In: Xxi congresso brasileiro de genética médica. Brasil.
  124. Health Sciences Medicine (miscellaneous)
    Debora Romeo BERTOLA; C E A R AMARAL; Chong Ae KIM; M C MOREIRA; L M J ALBANO et al. 2009. Craniossinostose em picnodisostose: expansão dos achados craniofaciais. In: Xxi congresso brasileiro de genética médica. Brasil.
  125. Life Sciences Neurology
    G L YAMAMOTO; M C MOREIRA; D R BEROLA; L M J ALBANO; L A N OLIVEIRA et al. 2009. Síndrome de gorlin-goltz: relato de 5 casos. In: Xxi congresso brasileiro de genética médica. Brasil.
  126. Health Sciences Genetics (clinical)
    T P C MAGALHÃES; Dafne HOROVITZ; E M RIBEIRO; M KERSTENETZKY; Chong Ae KIM et al. 2009. Terapia de reposição enzimática (tre) em pacientes com mucopolissacaridose tipo vi (mps vi) iniciada entre 1 e 3 anos de vida. In: Xxi congresso brasileiro de genética médica. Brasil.
  127. Social Sciences & Humanities Psychology (miscellaneous)
    Carolina R PADOVANI; Chong Ae KIM; Francisco B Assumpção JUNIOR. 2009. Sociabilidad en la síndrome de williams-beuren. In: Iv cingreso argentino de salud mental. Argentina.
  128. Social Sciences & Humanities Psychology (miscellaneous)
    Carolina R PADOVANI; Chong Ae KIM; Francisco B Assumpção JUNIOR. 2009. Sociabilidade na síndrome de williams-beuren. In: Congresso interdisciplinar saúde e educação. Brasil.
  129. Health Sciences Medicine (miscellaneous)
    Roberta Lelis DUTRA; Patrícia PIERI; F MACAFERRI; Rachel Sayuri HONJO; Debora Romeo BERTOLA et al. 2009. Analysis of microsatellites dna markers in the diagnosis of williams-beuren. In: 59th annual meeting of the american society of human genetics. Estados Unidos.
  130. Life Sciences Neurology
    Isabel Mosca FURQUIM; M R Passo BUENO; S P ROBERTSON; Chong Ae KIM; Debora Romeo BERTOLA. 2009. Frontometaphyseal dysplasia: severe phenotype in two sisters. In: 59th annual meeting of the american society of human genetics. Estados Unidos.
  131. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Rachel Sayuri HONJO; Roberta Lelis DUTRA; C C REBELO; Isabel Mosca FURQUIM; D R BERTOLA et al. 2009. Williams-beuren syndrome microdeletion diagnosis : the use of mlpa. In: 59th annual meeting of the american society of human genetics. Estados Unidos.
  132. Life Sciences Genetics
    S I N BELANGERO; A N X PACANARO; D M CHRISTOFOLINI; F T S BELLUCCO; L D KULIKOWSKI et al. 2009. Cytogenetic and molecular study in patients identified by cgh array: a small (~2 mb) deletion in patients with 22q11.2 deletion syndrome.n. In: 59th annual meeting of the american society of human genetics. Estados Unidos.
  133. Life Sciences Genetics
    R S GUILHERME; Chong Ae KIM; Rachel Sayuri HONJO; V A F MELONI; Ade Nubia Xavier PACANARO et al. 2009. Caracterização e avaliação da instabilidade de cromossomos em anel. In: 1a reunião brasileira de citogenética. Brasil.
  134. Health Sciences Pediatrics, Perinatology and Child Health
    Dafne HOROVITZ; E M RIBEIRO; A ACOSTA; L GIUGLIANI; M KERSTENESTZY et al. 2009. Enzyme replacement therapy in eight mucopolysaccharidosis type vi brazilian children under age three:preliminar data. In: 11th international congress of inborn errors of metabolism. Estados Unidos.
  135. Social Sciences & Humanities Psychology (miscellaneous)
    Isabel Mosca FURQUIM; Rachel Sayuri HONJO; G PORTA; D R BERTOLA; L M J ALBANO et al. 2008. Síndrome de arc-relato de dois casos. In: Xx congresso brasileiro de genética médica. Brasil.
  136. Health Sciences Medicine (miscellaneous)
    Ana Carolina PAULA; Rachel Sayuri HONJO; V A G LEVYMAN; G N LEAL; D R BERTOLA et al. 2008. Experiência da terapia de reposição enzimática na mucopolissacaridose tipo i. In: Xx congresso brasileiro de genética médica. Brasil.
  137. Life Sciences Genetics
    Rachel Sayuri HONJO; Juliana MAZZEU; A BONALDI; Isabel Mosca FURQUIM; D R BERTOLA et al. 2008. Duplicação do gene kcnq1 (11p15) em uma família com quatro afetados pela síndrome de silver-roussell. In: Xx congresso brasileiro de genética médica. Brasil.
  138. Health Sciences Medicine (miscellaneous)
    D R BERTOLA; Reynaldo ANTEQUERA; Maria Juliana Rodovalho DORIQUI; Rachel Sayuri HONJO; L M J ALBANO et al. 2008. Brachyolmia with amelogenesis imperfecta:further evidence of a single entity. In: 58th annual meeting of the american society of human genetics. Estados Unidos.
  139. Life Sciences Neuroscience (miscellaneous)
    Isabel Mosca FURQUIM; Rachel Sayuri HONJO; G PORTA; A P R HIRSCHFELD; J R VASCONCELOS et al. 2008. Arc syndrome: two case reports. In: 58th annual meeting of the american society of human genetics. Estados Unidos.
  140. Health Sciences Neurology (clinical)
    L M J ALBANO; C R S SILVA; M C VARELA; C P KOIFFMAN; D R BERTOLA et al. 2008. Follow-up of 22 prader-willi syndrome patients. In: 58th annual meeting of the american society of human genetics. Estados Unidos.
  141. Life Sciences Genetics
    A M Vianna MORGANTE; A BONALDI; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO et al. 2008. Duplication restricted to icr2 (kcnq1; kcnq1ot1 at 11p15 segregating in a familly with five children affected by silver-russell syndrome and cdkn1c genes). In: 58th annual meeting of the american society of human genetics. Estados Unidos.
  142. Health Sciences Medicine (miscellaneous)
    I SCHWARTZ; R GIUGLIANI; A FEDERHEN; L PINTO; S LEISTNER et al. 2008. Mps-brazil network: 4 years improving diagnosis and management of mucopolysaccharidoses in brazil. In: 58th annual meeting of the american society of human genetics. Estados Unidos.
  143. Life Sciences Genetics
    A M MORGANTE; A BONALDI; Rachel Sayuri HONJO; Debora Romeo BERTOLA; L M J ALBANO et al. 2008. Duplication restricted to icr2(kcnq1; kcnq1ot1 and cdkn1c genes)at 11p15 segregating in a familly with five children affected by silver-russell syndrome. In: 58th annual meeting of the american society of human genetics. Estados Unidos.
  144. Health Sciences Genetics (clinical)
    I V SCHWARTZ; A FEDERHEN; R SILVA; D GARCIA; T MARTINS et al. 2008. Mps-brazil network (2004-2008) 4 years improving the diagnosis and management of mucopolysaccharidoses in brazil. In: Ii congresso latino americano de enfermidades lisossômicas (colatel). Brasil.
  145. Health Sciences Pediatrics, Perinatology and Child Health
    D R BERTOLA; G PORTA; M P GONÇALVES; S R CARDOSO; L SUZUKI et al. 2007. Hepatic involvement in cockayne syndrome type a. In: European human genetics conference. França.
  146. Health Sciences Radiology, Nuclear Medicine and Imaging
    L M J ALBANO; S P ROBERTSON; L A N OLIVEIRA; D R BERTOLA; Chong Ae KIM. 2007. Otopalatodigital type i syndrome: report of a familial case. In: European human genetics conference. França.
  147. Life Sciences Genetics
    Chong Ae KIM; R HONJO; D R BERTOLA; L M J ALBANO; L A N OLIVEIRA et al. 2007. Sost gene mutation in two brazilian families with sclerosteosis. In: Eurpean human genetics conference. França.
  148. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; R HONJO; Debora Romeo BERTOLA; L M J ALBANO; L A N OLIVEIRA et al. 2007. Sost gene mutation in two brazilian families with sclerosteosis. In: European human genetics conference. França.
  149. Health Sciences Medicine (miscellaneous)
    R HONJO; E A FURASAWA; D R BERTOLA; L M J ALBANO; L SUZUKI et al. 2007. Alert to asymptomatic arteial hypertension in williams-beuren syndrome in childhood. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  150. Life Sciences Neurology
    J P G PEREIRA; L A N OLIVEIRA; Debora Romeo BERTOLA; R HONJO; Chong Ae KIM et al. 2007. Cleidocranial dysplasia: the use of a specific protocol to detect atypical cases and new findings in eight brazilian cases. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  151. Health Sciences Medicine (miscellaneous)
    C S TEIXEIRA; Claudia Renata Leite SILVA; Rachel Sayuri HONJO; D R BEROLA; L M J ALBANO et al. 2007. Dental evaluation of kabuki syndrome patients. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  152. Health Sciences Medicine (miscellaneous)
    Claudia Renata Leite SILVA; C S TEIXEIRA; Rachel Sayuri HONJO; Debora Romeo BERTOLA; L M J ALBANO et al. 2007. Importance of dental anomalies to the dignosis of smith-magenis syndrome: description of two cases. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  153. Health Sciences Genetics (clinical)
    D R BEROLA; Debora Romeo BERTOLA; A S BRASIL; A C PEREIRA; L M J ALBANO et al. 2007. Kras gene mutation analysis in a cohort of 50 brazilian patients with noonan and noonan-like syndromes. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  154. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    L M J ALBANO; M C RIVITTI; R GIUGLIANI; L C F SÁ; Debora Romeo BERTOLA et al. 2007. Angiokeratoma: an important clue for the diagnosis of fabry disease. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  155. Health Sciences Medicine (miscellaneous)
    A C Krepischi SANTOS; A M MORGANTE; F KOK; Chong Ae KIM; P A OTTO et al. 2007. Significance of submicroscopic genomic imbalances in mental retardation. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  156. Health Sciences Medicine (miscellaneous)
    M C VARELA; C S D ANGELO; I KOHL; C I E CASTRO; F KOK et al. 2007. Investigation of 300 patients with delayed psicomotor development; obesity; hyperphagia; learning disabilities and behavioral problems. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  157. Life Sciences Neuroscience (miscellaneous)
    E KLUCZINK; Chong Ae KIM; C H GONZALEZ; J A PAZ; Maria Joaquina Marques DIAS. 2007. Prevalence of autism spectrum disorders in patients with möbius sequence. In: 57th annual meeting of the american society of human genetics. Estados Unidos.
  158. Health Sciences Medicine (miscellaneous)
    Ana Carolina De PAULA; V H KOCH; E A FURASAWA; G MOREIRA; Chong Ae KIM. 2007. Hipertensão arterial na mucopolissacaridose. In: Xii simposio latinoamericano de enfermidades de depósito lisosomal. Uruguai.
  159. Health Sciences Genetics (clinical)
    Ana Carolina PAULA; G N LEAL; L M J ALBANO; Debora Romeo BERTOLA; Rachel Sayuri HONJO et al. 2007. Acompanhamento clínico de 30 pacientes com mucopolissacaridoses. In: I congreso latinoamericano de enfermedades lisosomales. Argentina.
  160. Life Sciences Genetics
    Ana Carolina PAULA; L A N OLIVEIRA; M CARVALHO; L M J ALBANO; Debora Romeo BERTOLA et al. 2007. Achados radiológicos em 30 pacientes com mucopolissacaridoses. In: I congreso latinoamericano de enfermedades lisosomales. Argentina.
  161. Health Sciences Medicine (miscellaneous)
    T A VIEIRA; I V SCHWARTZ; M V MUNOZ; L L PINTO; C E STEINER et al. 2007. The long path from birth until diagnosis: a study in 113 brazilian patients with mucopolysacharidoses. In: I congreso latinoamericano de enfermedades lisosomales. Argentina.
  162. Health Sciences Genetics (clinical)
    R GIUGLIANI; L PINTO; T A VIEIRA; M V MUNOZ; I V SCHWARTZ et al. 2007. The hunter outcome survey: data on latin american patients and preliminary comparison data from the rest of the world. In: I congreso latinoamericano de enfermedades lisosomales. Argentina.
  163. Life Sciences Genetics
    Leslie Domenici KULIKOWSKI; Pablo Domingos Rodrigues De NICOLA; Marco Antonio De Paula RAMOS; Chong Ae KIM; Maria Isabel MELARAGNO. 2006. Estudo clínico e citogenético - molecular de pacientes com deleção parcial do braço longo do cromossomo 18. In: Congresso brasileiro de genética clínica. Brasil.
  164. Health Sciences Medicine (miscellaneous)
    Sumatra Melo Costa JALES; Ana Laura Polizel RANIERI; José Cláudio M NÓBREGA; Chong Ae KIM; Debora Romeo BERTOLA et al. 2006. Neuralgia trigeminal decorrente de esclerostose. In: 7º congresso brasileiro de dor. Brasil.
  165. Health Sciences Neurology (clinical)
    Sumatra Melo Costa JALES; J C MARINHO; Ana Laura Polizel RANIERI; José Tadeu Tesseroli De SIQUEIRA; Chong Ae KIM. 2006. Neuralgia trigeminal decorrente de esclerostose familial. In: Viii congresso brasileiro de odontologia para pacientes com necessidades especiais. Brasil.
  166. Health Sciences Medicine (miscellaneous)
    F BORLOT; E KUCZYSNSKI; Chong Ae KIM; C H GONZALEZ; J A PAZ et al. 2006. Prevalência de autismo em pacientes com sequência de mobius. In: 11º encontro da sociedade brasileira de neurologia infantil. Brasil.
  167. Life Sciences Genetics
    Cintia Mariko MONMA; L D KULIKOSKI; Pablo Domingos Rodrigues De NICOLA; Marco Antonio De Paula RAMOS; D BRUNONI et al. 2006. Análise da casuística do laboratório de citogenética da disciplina de genética do departamento de morfologia da unifesp no período de 1990 a 2004 e reavaliação citogenética de casos com aberração cromossômica. In: Xiv congresso de iniciação científica da unifesp. Brasil.
  168. Life Sciences Genetics
    D R BERTOLA; A C PEREIRA; L Mj ALBANO; A C PAULA; Y K L KODA et al. 2006. Mutação f285s no gene ptpn11 em paciente com síndrome de noonan: predisposição para o desenvolvimento de displasia linfática?. In: Xviii congresso brasileiro de genética clínica. Brasil.
  169. Health Sciences Genetics (clinical)
    A C PAULA; L M J ALBANO; D R BERTOLA; C R L SILVA; V A G LEVYMAN et al. 2006. Estudo de intercorrências clínicas em 30 pacientes com mucopolissacaridoses. In: Xviii congresso brasileirode genética clínica. Brasil.
  170. Health Sciences Genetics (clinical)
    G N LEAL; A C PAULA; L M J ALBANO; Debora R BERTOLA; Chong Ae KIM. 2006. Estudo ecocardiográfico em 28 pacientes portadores de mucopolissacaridose. In: Xviii congresso brasileiro de genética clínica. Brasil.
  171. Health Sciences Medicine (miscellaneous)
    V A G LEVYMAN; L Mj ALBANO; D R BERTOLA; M J Marques DIAS; C LEITE et al. 2006. Experiência terapêutica em doença de menkes: relato de um caso familiar. In: Xviii congresso brasileiro de genética clínica. Brasil.
  172. Health Sciences Neurology (clinical)
    C R L SILVA; D R BERTOLA; L M J ALBANO; A C PAULA; V A G LEVYMAN et al. 2006. Displasia cifomélica x osteogênese imperfeita. In: Xviii congresso brasileiro de genética clínica. Brasil.
  173. Life Sciences Neuroscience (miscellaneous)
    L Mj ALBANO; D R BERTOLA; I T L SANTOS; M E J R CECCON; M VALENTE et al. 2006. Seqüência de displasia caudal - estudo anatomo-patológico de um rn com agenesia multisegmentar da coluna. In: Xviii congresso brasileiro de genética clínica. Brasil.
  174. Life Sciences Genetics
    I C SBRUZZI; A C PEREIRA; J E KRIEGER; D R BERTOLA; L M J ALBANO et al. 2006. Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de williams-beuren. In: Xviii congresso brasileiro de genética clínica. Brasil.
  175. Life Sciences Genetics
    B VASCONCELOS; C R L SILVA; L M J ALBANO; D R BERTOLA; C I E CASTRO et al. 2006. Triplo x; tetrassomia e pentassomia do x: relato de 11 casos. In: Xviii congresso brasileiro de genética clínica. Brasil.
  176. Social Sciences & Humanities Psychology (miscellaneous)
    S ZANINI; Gustavo D COELHO; E A FURUSAWA; L SUZUKI; Chong Ae KIM et al. 2005. Síndrome da aorta - relato de caso. In: Xiii congresso brasileiro de nefrologia pediátrica. Brasil.
  177. Health Sciences Medicine (miscellaneous)
    I SCHWATZ; K SOEIRO; C RAFAELLI; M BURIN; J COELHO et al. 2005. Mps-brazil network: a country wide iniciative to improve diagnosis and management of mucopolysaccharidoses in brazil. In: 5th international symposium on lysosomal storage diseases. Espanha.
  178. Health Sciences Neurology (clinical)
    Claudia Renata Leite SILVA; D R BERTOLA; L M J ALBANO; Vicente Odone FILHO; Chong Ae KIM. 2005. Clinical follow up of the five patients with rothmund thomson: importance of osteosarcoma. In: 55th annual meeting of the american society of human genetics. Estados Unidos.
  179. Life Sciences Genetics
    L M J ALBANO; Tatiana B BRASIL; M B MOREIRA; Claudia Renata Leite SILVA; D R BERTOLA et al. 2005. Clinical study of the five patients with trichorhinophalangeal syndrome. In: 55th annual meeting of the american society of human genetics. Estados Unidos.
  180. Health Sciences Pediatrics, Perinatology and Child Health
    C S D ANGELO; J A PAZ; Chong Ae KIM; D R BERTOLA; C I E CASTRO et al. 2005. Prader-willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development; hypotonia; obesity and/or hyperphagia; learning disabilities and behavioral problems. In: 55th annual meeting of the american society of human genetics. Estados Unidos.
  181. Life Sciences Genetics
    Debora Romeo BERTOLA; Hernian CAO; L M J ALBANO; Daniela P OLIVEIRA; F KOK et al. 2005. Ckn1 gene analysis in cockayne syndrome: novel mutaion in eight typical patients. In: 55th annual meeting of the american society of human genetics. Estados Unidos.
  182. Health Sciences Neurology (clinical)
    M C VARELA; Chong Ae KIM; Debora Romeo BERTOLA; A Y Simões SATO; C I E C FABRIS et al. 2005. A new case of interstitial 6q16.2 deletion in a patient with prader-willi-like phenotype and investigation of sim1 gene deletion in 87 patients with syndromic obesity. In: 55th annual meeting of the american society of human genetics. Estados Unidos.
  183. Life Sciences Genetics
    B VASCONCELOS; L M J ALBANO; C I E CASTRO; Debora Romeo BERTOLA; I C SBRUZZI et al. 2005. Ring chromosome syndrome: report of 12 cases. In: 55th annual meeting of the american society of human genetics. Brasil.
  184. Health Sciences Neurology (clinical)
    Claudia Renata Leite SILVA; Debora Romeo BERTOLA; L M J ALBANO; Vicente Odone FILHO; Chong Ae KIM. 2005. Clinical follow up of the five patients with rothmund thomson: importance of osteosarcoma. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  185. Life Sciences Genetics
    L Mj ALBANO; T B BRASIL; M B MOREIRA; C R L SILVA; D R BERTOLA et al. 2005. Clinical study of the five patients with trichorhinophalangeal syndrome. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  186. Health Sciences Neurology (clinical)
    C S DÁNGELO; J A PAZ; Chong Ae KIM; D R BERTOLA; C I E CASTRO et al. 2005. Prader-willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development; hypotonia; obesity and/or hyperphagia; learning disabilities and behavioral problems. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  187. Life Sciences Genetics
    D R BEROLA; H CAO; L M J ALBANO; D P OLIVEIRA; F KOK et al. 2005. Ckn1 gene analysis in cockayne syndrome: novel mutations in eight typical patients. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  188. Health Sciences Genetics (clinical)
    M C VARELA; Chong Ae KIM; D R BEROLA; A Y Simões SATO; C I E C FABRIS et al. 2005. A new case of intersticial 6q16.2 deletion in a patient with prader-willi-like phenotype and investigation of sim1 gene deletion in 87 patients with syndromic obesity. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  189. Life Sciences Genetics
    B VASCONCELOS; L M J ALBANO; C I E CASTRO; D R BEROLA; I C SBRUZZI et al. 2005. Ring chromosome syndrome: report of 12 cases. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  190. Life Sciences Genetics
    Debora Romeo BERTOLA; A C PEREIRA; Chong Ae KIM; L Mj ALBANO; J E KRIEGER. 2005. Study of the ptpn11 gene in 58 probands with noonan syndrome and noonan-like phenotype. In: Xvii congresso brasileiro de genética clínica. Brasil.
  191. Health Sciences Pediatrics, Perinatology and Child Health
    A C PAULA; J D CARNEIRO; M B G COSTA; A C G M SANTOS; T P DELBONI et al. 2005. Marrow aplasia in a child with mucopolysaccharidosis vi (maroteaux-lamy syndrome). In: Xvii congresso brasileiro de genética clínica. Brasil.
  192. Life Sciences Genetics
    B VASCONCELOS; I C SBRUZZI; L Mj ALBANO; D R BERTOLA; C P KOIFFMANN et al. 2005. Síndrome do cromossomo em anel. In: Xvii congreeso brasileiro de genética clínica. Brasil.
  193. Life Sciences Genetics
    D R BERTOLA; A C PEREIRA; J D A CARNEIRO; J KRIEGER; Chong Ae KIM. 2005. Further evidence that the t731 ptpn11 gene mutation is associated with myeloprliferative disorder in noonan syndrome. In: Annual clinical genetics meeting. Estados Unidos.
  194. Health Sciences Genetics (clinical)
    D R BERTOLA; A C PEREIRA; Chong Ae KIM; L M J ALBANO; J KRIEGER. 2005. Study of the ptpn11 gene in 58 probands with noonan syndrome and noonan-like phenotype. In: Xvii congresso nacional de genética clínica. Brasil.
  195. Life Sciences Genetics
    A C PAULA; A C G M SANTOS; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al. 2005. Mucopolysaccharidosis i (hurler-scheie) with non coarse facial features. In: 5th international symposium on lysosomal storage diseases. Espanha.
  196. Health Sciences Neurology (clinical)
    Chong Ae KIM; L M J ALBANO; L R S SADECK; C R LEONE; G F GATTAS et al. 2005. Monozygotic twins discordant for cystic microphthalmia; abnormalities of first branchial arch and midline structures: a variant of oculocerebrocutaneous syndrome?. In: Annual clinical genetics meeting. Estados Unidos.
  197. Life Sciences Genetics
    A C PAULA; J D CARNEIRO; A C G M SANTOS; T P DELBONI; D R BERTOLA et al. 2005. Marrow aplasia in a child with mucopollyssacharidosis vi (maroteaux-lamy syndrome). In: 5th international symposium on lysosomal storage diseases. Espanha.
  198. Health Sciences Genetics (clinical)
    D R BERTOLA; L M J ALBANO; G N LEAN; L C F SÁ; R GIUGLIANAI et al. 2005. Late dignosis in fabry disease: report of a familly with five affected members. In: International workshop on lysossomal storage disorders. Grécia.
  199. Health Sciences Medicine (miscellaneous)
    Claudia Renata Leite SILVA; Vicente Odone FILHO; Chong Ae KIM; L M J ALBANO; D R BERTOLA. 2005. Evolução clínica de cinco pacientes com rothmund thomson: importância do osteosarcoma. In: Xvii congresso nacional de genética clínica. Brasil.
  200. Social Sciences & Humanities Language and Linguistics
    Claudia Renata Leite SILVA; Tatiana De MATTOSHIROOKA; Maria Joaquina Marques DIAS; Chong Ae KIM; L M J ALBANO et al. 2005. Associação das sequências de poland e moebius em uma paciente. In: Xvii congresso nacional de genética clínica. Brasil.
  201. Health Sciences Genetics (clinical)
    L M J ALBANO; Chong Ae KIM; D R BERTOLA; M F BARBA; S P ROBERTSON. 2005. Phenotypic overlap in melnick-needles; serpentine fibula-polycystic kidney; and hajdu-cheney syndromes: a clinical and molecular study in three patients. In: Xvii congresso nacional de genética clínica. Brasil.
  202. Life Sciences Genetics
    Ana Carolina PAULA; A C G M SANTOS; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al. 2005. Mucopolysaccharidosis i (hurler-scheie) with non coarse facial features. In: Xvii congresso nacional de genética clínica. Brasil.
  203. Life Sciences Genetics
    B VASCONCELOS; I C SBRUZZI; L M J ALBANO; D R BERTOLA; C P KOIFFMANN et al. 2005. Síndrome do cromossomo em anel. In: Xvii congresso nacional de genética clínica. Brasil.
  204. Health Sciences Genetics (clinical)
    V J Coulson THOMAS; Y M MICHELACCI; T G FERREIRA; Chong Ae KIM; L M J ALBANO et al. 2004. Isolation of a peptide linked keratan sulphate from urine of a patient with morquio syndrome. In: Simec international symposium on extracellular matrix. Brasil.
  205. Life Sciences Genetics
    Ana Carolina PAULA; A C G M SANTOS; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al. 2004. Achados radiológicos em pacientes com mucopolissacaridose tipo vi (síndrome de maroteaux-lamy). In: Xvi congresso brasileiro de genética clínica. Brasil.
  206. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; M SANO; L YANO; E DINIZ; D R BERTOLA et al. 2004. Galactosialidose: relato de tres casos com início precoce. In: Xvi congresso nacional de genética clínica. Brasil.
  207. Health Sciences Genetics (clinical)
    A C M AZEVEDO; I SCHWATZ; M PETRY; A P BEHEREGARAY; F T SOUZA et al. 2004. Estudo de correlação genótipo-fenótipo em seis brasileiros portadores da mutação 1533del23. In: Xvi congresso nacional de genética clínica. Brasil.
  208. Health Sciences Medicine (miscellaneous)
    L ALBANO; L A N OLIVEIRA; D R BERTOLA; A C PAULA; T P DELBONI et al. 2004. Omodisplasia: relato do primeiro caso brasileiro. In: Xvi congresso nacional de genética clínica. Brasil.
  209. Life Sciences Genetics
    Ana Carolina PAULA; A C G M SANTOS; T P DELBONI; D R BEROLA; L M J ALBANO et al. 2004. Achados radiológicos em pacientes com mucopolissacaridose. In: Xvi congresso nacional de genética clínica. Brasil.
  210. Life Sciences Genetics
    Debora Romeo BERTOLA; A C PEREIRA; J D A CARNEIRO; J KRIEGER; Chong Ae KIM. 2004. Further evidence that the t731 ptpn11 gene mutation is associated with myeloproliferative disorder in noonan syndrome. In: Annual clinical genetics meeting of american college of medical genetics. Estados Unidos.
  211. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; M SANO; L YANO; E M A DINIZ; D R BERTOLA et al. 2004. Galactosialidose: relato de tres casos com início precoce. In: Xvi congresso brasileiro de genética clínica. Brasil.
  212. Health Sciences Neurology (clinical)
    L Mj ALBANO; L A N OLIVEIRA; D R BERTOLA; A C PAULA; T P DELBONI et al. 2004. Omodisplasia: relato do primeiro caso brasileiro. In: Xvi congresso brasileiro de genética clínica. Brasil.
  213. Life Sciences Genetics
    A C PAULA; A C G M SANTOS; T P DELBONI; D R BERTOLA; L M J ALBANO et al. 2004. Achados radiológicos em pacientes com mucopolissacaridose. In: Xvi congresso brasileiro de genética clínica. Brasil.
  214. Health Sciences Genetics (clinical)
    A C AZEVEDO; I V SCHWARTZ; M PETRY; A P BEHEREGARAY; F T SOUZA et al. 2004. Mucopolissacaridose tipo vi - estudo de correlação genótipo-fenótipo em seis brasileiros portadores da mutação i533del23. In: Xvi congresso brasileiro de genética clínica. Brasil.
  215. Life Sciences Genetics
    D R BERTOLA; A C PEREIRA; J D A CARNEIRO; J E KRIEGER; Chong Ae KIM. 2004. Further evidence that the t731 ptpn11 gene mutation is associated with myeloproliferative disorder in noonan syndrome. In: Annual clinical genetics meeting. Estados Unidos.
  216. Life Sciences Genetics
    A C PAULA; F Donato JR; D R BERTOLA; L M J ALBANO; Chong Ae KIM et al. 2004. Achados radiológicos em pacientes com mucopolissacaridose tipo vi (síndrome de maroteaux-lamy). In: 34ª jornada paulista de radiologia. Brasil.
  217. Life Sciences Genetics
    D R BERTOLA; A C PEREIRA; J D A CARNEIRO; J KRIEGER; Chong Ae KIM. 2004. Further evidence that the t731 ptpn11 gene mutation is associated with myeloproliferative disorder in noonan syndrome. In: Annual clinical genetics meeting. american college of medical genetics. Estados Unidos.
  218. Health Sciences Neurology (clinical)
    Chong Ae KIM; L M J ALBANO; L R S SADECK; C R LEONE; G J F GATTÁS et al. 2004. Monozygotic twins discordant for cystic microphthalmia; abnormalities of first branchial arch and midline structures: a variant of oculocerebrocutaneous syndrome?. In: Annual clinical genetics meeting of american college of medical genetics. Estados Unidos.
  219. Life Sciences Neurology
    L M J ALBANO; L A N OLIVEIRA; D R BERTOLA; A C PAULA; T P DELBONI et al. 2004. Omodysplasia: report of the first brazilian case. In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  220. Life Sciences Genetics
    A C PAULA; A C G M SANTOS; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al. 2004. Radiologic manifestations of 5 brazilian cases of mucopolysaccharidosis vi (maroteaux-lamy syndrome). In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  221. Life Sciences Neurology
    Debora Romeo BERTOLA; A C PEREIRA; P S OLIVEIRA; L MESSIAEN; B D GELB et al. 2004. Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  222. Life Sciences Genetics
    Chong Ae KIM; A C PEREIRA; J KRIEGER; L M J ALBANO; Debora Romeo BERTOLA. 2004. Noonan-like phenotype and ptpn11 gene: study of 15 patients. In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  223. Health Sciences Genetics (clinical)
    F S JEHEE; D JOHNSON; K T ABE; L ALONSO; N ALONSO et al. 2004. Genetic and molecular analysis of a large cohort of patients with syndromic and non-syndromic trigonocephaly - screening for loss of heterozigosity in 9p and 11q regions. In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  224. Health Sciences Medicine (miscellaneous)
    M C VARELA; F KOK; N SETIAN; Chong Ae KIM; C P KOIFFMANN. 2004. Is the prader-willi syndrome phenotype related to molecular mechanisms? a study of 75 patients. In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  225. Life Sciences Genetics
    A C G M SANTOS; A PAULA; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al. 2004. Oral defects of brazilian cases of mucopolysaccharidosis. In: 54th annual meeting of the american society of human genetics. Estados Unidos.
  226. Health Sciences Pediatrics, Perinatology and Child Health
    Maria Joaquina Marques DIAS; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; J A PAZ; E DINIZ et al. 2004. Anomalias congênitas associadas ao uso do misoprostol no 1º trimestre de gestação: estudo clínico de 11 novos casos. In: Xiv congresso brasileiro de perinatologia- xi reunião de enfermagem perinatal. Brasil.
  227. Health Sciences Genetics (clinical)
    I V SCHWARTZ; M BREDA; L SCHERER; M VIAPIANA; K TYLEE et al. 2003. Estudo clínico; bioquímico e genético de pacientes com mucopolissacaridose tipo ii e possíveis portadoras. In: Xv congresso brasileiro de genética clínica. Brasil.
  228. Health Sciences Medicine (miscellaneous)
    Ana Carolina PAULA; L M J ALBANO; D R BERTOLA; M B MOREIRA; V H FERRARO et al. 2003. Estudo clínico de dez pacientes com mucopolissacaridose tipo vi. In: Xv congresso brasileiro de genética clínica. Brasil.
  229. Health Sciences Medicine (miscellaneous)
    Ana Carolina PAULA; D R BERTOLA; L M J ALBANO; M J FABRE; L A N OLIVEIRA et al. 2003. S morquio x s dyggve-melchior-clausen. In: Xv congresso brasileiro de genética clínica. Brasil.
  230. Health Sciences Medicine (miscellaneous)
    Maria Joaquina Marques DIAS; J A PAZ; M VALENTE; Chong Ae KIM; E KUCZYSNSKI. 2003. Sequencia de möbius (sm) no instituto da criança: análise de uma série de 57 pacientes entre 1992-2003. In: Xv congresso brasileiro de genética clínica. Brasil.
  231. Health Sciences Medicine (miscellaneous)
    A PUGA; L VEDOLIN; L PINTO; S BRUSTOLIN; L KALAKUN et al. 2003. Envolvimento cerebral na mucoplissacaridose tipo ii: achados na ressonância magnética e espectroscopia por rm. In: Xv congresso brasileiro de genética clínica. Brasil.
  232. Life Sciences Genetics
    Chong Ae KIM; A C PAULA; D R BERTOLA; L TOMA; R GIUGLIANI et al. 2003. Clinical and laboratorial study of 26 brazilian cases of mucopolysaccharidosis. In: 3rd international symposium on lysosomal storage diseases. Espanha.
  233. Life Sciences Genetics
    Chong Ae KIM; A C PAULA; D R BEROLA; L TOMA; R GIUGLIANI et al. 2003. Clinical and laboratorial study of 26 brazilian cases of mucopolysaccharidosis. In: 3rd international symposyum on lysosomal storage diseases. Espanha.
  234. Social Sciences & Humanities Psychology (miscellaneous)
    M J Marques DIAS; J A PAZ; M VALENTE; Chong Ae KIM; E KUCZYSNSKI. 2003. Sequencia de möbius (sm) noicr análise de um série de 57pacientes entre 1992-2003. In: I congresso brasileirode neurologia infantil e i encontro internacional de neurorradiologia pediátrica. Brasil.
  235. Health Sciences Medicine (miscellaneous)
    Y K L KODA; E VIDOLIM; K L MEDEIROS; Chong Ae KIM; L M J ALBANO et al. 2003. Síndrome diencefálica: causa incomum de "failure to tbrive". In: Xi congresso brasileiro de gastroenterologia pediátrica. Brasil.
  236. Life Sciences Genetics
    Chong Ae KIM; M B MOREIRA; V H FERRARO; A S BRASIL; L M J ALBANO et al. 2003. Frequência de aberração cromossômica nos pacientes atendidos na unidade de genética entre 1992 e 2002. In: Xv congresso brasileiro de genética clínica. Brasil.
  237. Health Sciences Medicine (miscellaneous)
    I V SCHWARTZ; L VEDOLIN; A PUGA; L PINTO; F GONÇALVES et al. 2003. Cerebral involvement in mucopolysaccharidosis ii: correlation between brain magnetic resonance findings and clinical manifestations. In: 53 rd annual meeting of the american society of human genetics. Estados Unidos.
  238. Health Sciences Genetics (clinical)
    A PUGA; L VEDOLIN; L PINTO; S BRUSTOLIN; L KALAKUN et al. 2003. Envolvimento cerebral na mucopolissacaridose tipo ii: achados na ressonância magnética e espectroscopia por rm. In: Xv congresso nacional de genética clínica. Brasil.
  239. Life Sciences Genetics
    Chong Ae KIM; Ana Carolina PAULA; Debora Romeo BERTOLA; L TOMA; R GIUGLIANI et al. 2003. Clinical study of 10 brazilian cases of mucopolysaccharidosis vi (maroteaux-lamy syndrome). In: 53 rd annual meeting of the american society of human genetics. Estados Unidos.
  240. Health Sciences Medicine (miscellaneous)
    A C PAULA; L M J ALBANO; D R BEROLA; M B MOREIRA; V H FERRARO et al. 2003. Estudo clínico de dez pacientes com mucopolissacaridose tipovi( s maroteaux-lamy). In: Xv congresso nacional de genética clínica. Brasil.
  241. Health Sciences Medicine (miscellaneous)
    A C PAULA; D R BEROLA; L M J ALBANO; M J FABRE; L A N OLIVEIRA et al. 2003. S morquio x s dyggve-melchior-clausen. In: Xv congresso nacional de genética clínica. Brasil.
  242. Health Sciences Medicine (miscellaneous)
    K D VALENTE; Chong Ae KIM; S M M SUGAYAMA; C LEITE; M VALENTE. 2003. A possible link between calvarial bone defects and disorders of cortical development: familial alx4 home box gene mutation. In: 56th annual meeting of the american epilepsy society. Estados Unidos.
  243. Health Sciences Pediatrics, Perinatology and Child Health
    M E J R CECCON; N E CABALLERO; E M A DINIZ; V L J KREBS; R FEFERBAUM et al. 2003. Neonatal complication in infantile type galactosialidosis. In: 6th world congress of perinatal medicine. Alemanha.
  244. Health Sciences Medicine (miscellaneous)
    A C PAULA; L M J ALBANO; D R BERTOLA; V H FERRARO; E TULIO et al. 2003. Mucopolissacaridose tipo i: relato de caso. perspectivas para o futuro. In: 32o congress brasileiro de pediatria e 10o congresso paulista de pediatria. Brasil.
  245. Life Sciences Genetics
    Chong Ae KIM; J A PAZ; E B CASELLA; Y S SHIN; Maria Joaquina Marques DIAS. 2003. Congenital disorder of glycosylation type i: report of three brazilian patients. In: I congresso ucraniano de genética clínica. Ucrânia.
  246. Health Sciences Neurology (clinical)
    I ASSUMPÇÃO; A Z PFEIFFER; Y K L KODA; K A FURUTA; C J ABE et al. 2002. Primary intestinal lymphangiectasia congenital: report of one case. In: European human genetics conference. França.
  247. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M J ALBANO; R B PALHARES; S MESQUITA; A C PEREIRA et al. 2002. Evidence of autosomal recessive inheritance in unifocal subtype of fibromuscular dysplasia of the renal arteries. In: European human genetics conference. França.
  248. Health Sciences Pediatrics, Perinatology and Child Health
    L M J ALBANO; R M MOYSES; M F BARBA; A C PAULA; Chong Ae KIM. 2002. Further delineation of serpentine fibula-polycyst kidney syndrome. In: European human genetics conference. França.
  249. Life Sciences Genetics
    Sofia Mizuko Miura SUGAYAMA; Koch V H; E A FURASAWA; Z M SAMMOUR; C M GOMES et al. 2002. Achados renais e urinários em 20 pacientes com síndrome de williams-beuren (swb). In: 21º congresso brasileiro de nefrologia- 11º congresso brasileiro de enfermagem em nefrologia. Brasil.
  250. Health Sciences Genetics (clinical)
    M BREDA; I SCHWATZ; U MATTE; S LEISTNER; L LIMA et al. 2002. Estudo bioquímico de possíveis portadoras de mucopolissacaridose tipo ii (síndrome de hunter) - resultados preliminares. In: 48º congresso nacional de genética. Brasil.
  251. Life Sciences Genetics
    I V SCHWARTZ; S LEISTNER; L LIMA; T DIETER; L SCHERER et al. 2002. A comprehensive and nation-wide study of hunter's disease in brazil. In: 2nd international symposium on lysosomal storage diseases. França.
  252. Health Sciences General Medicine
    A C PAULA; A L FTUPINAMBÁ; M G VALLADA; H S MARQUES; E VIDOLIM et al. 2002. A importância do estudo citogenético na síndrome de bloom. In: 14o congresso brasileiro de genética clínica. Brasil.
  253. Health Sciences Medicine (miscellaneous)
    A C PAULA; A L FTUPINAMBÁ; M G VALLADA; H S MARQUES; E VIDOLIM et al. 2002. Síndrome diencefálica x lipoatrofias: diagnóstico diferencial. In: Xiv congresso brasileiro de genética clínica. Brasil.
  254. Life Sciences Pharmacology
    M I PINTO; A PAULA; D R BERTOLA; L M J ALBANO; Chong Ae KIM et al. 2002. A importância do estudo citogenético na síndrome de bloom. In: Xiv congresso brasileiro de genética clínica. Brasil.
  255. Life Sciences Neuroscience (miscellaneous)
    I C SBRUZZI; B VASCONCELOS; D R BERTOLA; L M J ALBANO; S MESQUITA et al. 2002. Sobrevida prolongada em dois pacientes com síndrome de edwards. In: Xiv congresso brasileiro de genética clínica. Brasil.
  256. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; V H KOCH; E A FURUSAWA; Z M SAMMOUR; C M GOMES et al. 2002. Achados renais e urinários em 20 pacientes com síndrome de williams-beuren. In: Xiv congresso brasileiro de genética clínica. Brasil.
  257. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; C LEONE; V H KOCH; E A FURUSAWA; D R BERTOLA et al. 2002. Proposta de sistema de pontuação (score) para diagnóstico clínico da síndrome de williams-beuren. In: Xiv congresso brasileiro de genética clínica. Brasil.
  258. Life Sciences Genetics
    K D VALENTE; Chong Ae KIM; S M M SUGAYAMA; C LEITE; M VALENTE. 2002. A possible link between calvarial bone defects and disorders of cortical development: familial alx4 homeobox gene mutation. In: The american epilepsy society 56th annual meeting. Estados Unidos.
  259. Health Sciences Pediatrics, Perinatology and Child Health
    C H GONZALEZ; M J Marques DIAS; Chong Ae KIM; J A PAZ; S M SUGAYAMA et al. 2002. Misoprostol embryopathy: clinical evaluations of 13patients with congenital hydrocephaly. In: 52nd annual meeting of the american society of human genetics. Estados Unidos.
  260. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M PINTO; A C PAULA; L M J ALBANO; A Lf TUPINAMBA et al. 2002. Diencephalic tumour-emaciation syndrome x lipoatrophies: diferential diagnosis. In: 52nd annual meeting of the american society of human genetics. Estados Unidos.
  261. Health Sciences Medicine (miscellaneous)
    F S JEHEE; D JOHNSON; L ALONSO; K T ABE; N ALONSO et al. 2002. Screening of patients with trigonocephaly with markers from the 9p and 11q regions. In: 52nd annual meeting of the american society of human genetics. Estados Unidos.
  262. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Chong Ae KIM; L M J ALBANO; V H KOCH; E B CASELLA; S M MARIE et al. 2002. Methylmalonic aciduria associatedwith spondylocostal dysostosis. In: 8th annual asian-european workshop on inborn errors of metabolism. Lituânia.
  263. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; R L MOYSÉS; J WAGENFUHR; N M IKARI; V H KOCH et al. 2002. Anomalias cardiovasculares em 20 pacientes com síndrome de williams-beuren. In: 48º congresso nacional de genética. Brasil.
  264. Health Sciences Medicine (miscellaneous)
    G COUTINHO; M MITUI; C CAMPBELL; X SUN; B C CARVALHO et al. 2002. Spectrum of atm mutations; haplotypes and polymorphisms in brazilian patients with ataxia-telangiectasia. In: 48º congresso nacional de genética. Brasil.
  265. Health Sciences Pediatrics, Perinatology and Child Health
    M J Marques DIAS; S ROSEMBERG; Chong Ae KIM; J A PAZ; M VALENTE et al. 2002. Neurogenic arthrogryposis multiplex congenita in 12 patients exposed in utero to misoprostol. In: Vii congrès sociétè europeéne de neurologie pediatrique. França.
  266. Life Sciences Genetics
    I V SCHWARTZ; S LEISTNER; L LIMA; T DIETER; L SCHERER et al. 2002. Comprehensive and nation-wide study of hunter´s disease in brazil. In: 7th international symposium on mps and related diseases. França.
  267. Health Sciences Pediatrics, Perinatology and Child Health
    Maria Joaquina Marques DIAS; S ROSEMBERG; Chong Ae KIM; J A PAZ; M VALENTE et al. 2002. Neurogenic arthrogryposis multiplex congenital in 12 patients exposed in utero to misoprostol. In: Vii congrès de la société europeéne de neurologie pediatrique. França.
  268. Health Sciences Genetics (clinical)
    M J Marques DIAS; J A PAZ; E B CASELLA; Chong Ae KIM. 2002. Congenital disorder of glycosylation; type i: first brazilian report. In: Vii congrès de la société europeéne de neurologie pediatrique. França.
  269. Health Sciences Neurology (clinical)
    M J Marques DIAS; Chong Ae KIM; J A PAZ; C H GONZALEZ. 2002. Multidisciplinary study of 53 patients with mobius sequency: associated abnormalities; autism and a vascular pathogeny. In: Vii congrès de la société europeéne de neurologie pediatrique. França.
  270. Health Sciences Genetics (clinical)
    L M M A CAMPOS; Sofia Mizuko Miura SUGAYAMA; C A A SILVA; C LEONE; M F BARBA et al. 2002. Anomalias músculo-esqueléticas em 20 pacientes com síndrome de williams-beuren e correlação com o teste de hibridização in situ por fluorescência (fish). In: Xxiv congresso brasileiro de reumatologia. Brasil.
  271. Health Sciences Medicine (miscellaneous)
    P Gerritsen PLAGGERT; Chong Ae KIM; M J Marques DIAS; U C REED; F KOK et al. 2002. Encefalocele occipital como principal manifestação da síndrome das bridas aminióticas: relato de caso. In: Xx congresso brasileiro de neurologia. Brasil.
  272. Health Sciences Medicine (miscellaneous)
    L RIBEIRO; A C PASTORINO; A B F FOMIN; A P B M CASTRO; Chong Ae KIM et al. 2001. Alterações imunológicas em pacientes com síndrome de down e infecções recorrentes e/ou graves. In: 3º congresso da slaaip. Brasil.
  273. Life Sciences Neuroscience (miscellaneous)
    M H VALENTE; S M M SUGAYAMA; C H GONZALEZ; Chong Ae KIM; C C LEITE. 2001. Imaging findings in a familiar case of foramina parietalia permagna. In: 39th annual meeting of the american society of neuroradiology. Estados Unidos.
  274. Life Sciences Genetics
    Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; P S Gerritsen PLAGGERT; S F MESQUITA et al. 2001. Phaces syndrome in two brazilian patients. In: Annual clinical genetics meeting. Estados Unidos.
  275. Health Sciences Pediatrics, Perinatology and Child Health
    V L J KREBS; E M A DINIZ; Maria Ester R J CECCON; Chong Ae KIM; Flavio Ac VAZ. 2001. Síndrome fetal alcoólica em recém-nascido pré-termo: relato de caso. In: 9º congresso paulista de pediatria. Brasil.
  276. Health Sciences Medicine (miscellaneous)
    S F MESQUITA; D R BERTOLA; L M J ALBANO; A C PEREIRA; J E KRIEGER et al. 2001. Natural hystory of geleophysic displasia: report of one case with 30 years old. In: 51st annual meeting of the american society of human genetics. Estados Unidos.
  277. Health Sciences Pediatrics, Perinatology and Child Health
    L M A RIBEIRO; A PASTORINO; Chong Ae KIM; A P M CASTRO; A B F FOMIN et al. 2001. Associated factors evaluation in recurrent and/or severe infections in down's syndrome patients. In: 51st annual meeting of the american society of human genetics. Estados Unidos.
  278. Life Sciences Neurology
    Chong Ae KIM; S M M SUGAYAMA; R S COELHO; L M J ALBANO. 2001. Acromegaloid facial appearence (afa) and generalized congenital hypertrichosis: variant of afa syndrome or a new syndrome?. In: 51st annual meeting of the american society of human genetics. Estados Unidos.
  279. Life Sciences Neurology
    S M M SUGAYAMA; M VALENTE; J A PAZ; C LEITE; L M J ALBANO et al. 2001. Cranial computed tomographic findings of 20 patients with william-beuren syndrome. In: 51st annual meeting of the american society of human genetics. Estados Unidos.
  280. Health Sciences Genetics (clinical)
    P S Gerritsen PLAGGERT; L M J ALBANO; S M M SUGAYAMA; L TOMA; J COELHO et al. 2001. Clinical and laboratorial study of 21 cases of mucopolysaccaridosis. In: 10th international congress of human genetics. Inglaterra.
  281. Health Sciences Cardiology and Cardiovascular Medicine
    L M J ALBANO; R I MOYSES; J WAGENFUHR; S A D NISHIOKA; D R BEROLA et al. 2001. Cardiac evaluation of 25 brazilian patients with friedreich's ataxia. In: 10th european society of human genetics. Inglaterra.
  282. Health Sciences Genetics (clinical)
    Chong Ae KIM; I R ASSUMPÇÃO; Y K L KODA; V M P SIMONE; M VALENTE et al. 2001. Abdominal lipomatosis in a patient with proteus syndrome. In: 10th international congress of human genetics. Austria.
  283. Health Sciences Genetics (clinical)
    F B SCALCO; R CAMARGO; A C Fett CONTE; Chong Ae KIM; E R VALADARES et al. 2001. Avaliação genético-clínica de portadores da síndrome de smith-lemli-opitz. In: Xiii congresso brasileiro de genética clínica. Brasil.
  284. Life Sciences Genetics
    Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; P S Gerritsen PLAGGERT; S F MESQUITA et al. 2001. Phaces syndrome in two brazilian patients. In: Annual meeting of the society for inherited metabolic disorders. Estados Unidos.
  285. Health Sciences Neurology (clinical)
    S M M SUGAYAMA; M VALENTE; J A PAZ; C LEITE; L M J ALBANO et al. 2001. Cranial computed tomography findings of 20 patients with williams-beuren syndrome. In: Xiii congresso brasileiro de genética clínica. Brasil.
  286. Life Sciences Clinical Biochemistry
    L M J ALBANO; R L MOYSÉS; J WAGENFUHR; S A D NISHIOKA; D R BEROLA et al. 2001. Cardiac evaluation of 25 brazilian patients with friedreich´s ataxia. In: 10th international congress of human genetics. Austria.
  287. Physical Sciences Biomedical Engineering
    F R CORREA; A C PEREIRA; G F A MOTA; Chong Ae KIM; S F MESQUITA et al. 2001. Utilização de marcadores polimórficos em diagnóstico de microdeleção 22q11.2. In: Xiii congresso brasileiro de genética clínica. Brasil.
  288. Health Sciences Medicine (miscellaneous)
    R F R CORREA; A C PEREIRA; G F A MOTA; Chong Ae KIM; S F MESQUITA et al. 2001. Utilização de marcadores polimórficos em microdeleção 7q11.23(síndrome de willlams). In: Xiii congresso brasileiro de genética clínica. Brasil.
  289. Health Sciences Genetics (clinical)
    L M J ALBANO; P P O SAKAE; M M G B MATALOUN; A M T ALBUQUERQUE; C R LEONE et al. 2001. A hidronefrose na síndrome de schinzel-giedion. In: Xiii congresso brasileiro de genética clínica. Brasil.
  290. Health Sciences Medicine (miscellaneous)
    E C C BEDA; L C MORAES; L M J ALBANO; S M M SUGAYAMA; Chong Ae KIM. 2001. Alterações buco-dentais com análise radiográfica de 7 pacientes com síndrome de kabuki. In: Xiii congresso brasileiro de genética clínica. Brasil.
  291. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; E M A DINIZ; V L J KREBS; M E R J CECCON; M J Marques DIAS et al. 2001. Dilemas no manejo clínico-cirúrgico da síndrome de pfeiffer tipo ii com protusão ocular grave. In: Xiii congresso brasileiro de genética clínica. Brasil.
  292. Health Sciences Medicine (miscellaneous)
    Y K L KODA; I R ASSUMPÇÃO; Chong Ae KIM; V M P SIMONE; L A N OLIVEIRA et al. 2001. S proteus com lipomatose abdominal - relato de caso. In: X congresso brasileiro de gastroenterologia pediátrica. Brasil.
  293. Health Sciences Genetics (clinical)
    V L J KREBS; M MELUZZI; E M A DINIZ; M E J R CECCON; Chong Ae KIM et al. 2001. Fetal-alcohol sydrome in a newborn: a case report. In: Renaissance congress of 21th century on the woman and child before; during and after pregnancy. Itália.
  294. Life Sciences Neurology
    Maria Joaquina Marques DIAS; Chong Ae KIM; E W BACELAR; J A PAZ; M VALENTE. 2001. Moebius sequence (ms) related to a first trimester gynecologic surgery. In: Annual clinical genetics meeting. Estados Unidos.
  295. Life Sciences Genetics
    D R BERTOLA; Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; J D CARNEIRO et al. 2000. Noonan syndrome: a clinical and genetic study of 31 patients. In: Xii congresso brasileiro de genética clínica- iii símposio luso-brasileiro de genética clínica. Brasil.
  296. Life Sciences Neurology
    P S Gerritsen PLAGGERT; Sofia Mizuko Miura SUGAYAMA; L M J ALBANO; Debora Romeo BERTOLA; C E F ANDRADE et al. 2000. Simpson-golabi-behmel syndrome: report of 3 patients and review of the literature. In: Xii congresso brasileiro de genética clínica- iii símposio luso-brasileiro de genética clínica. Brasil.
  297. Life Sciences Genetics
    L A PRAXEDES; R C Mingroni NETO; Chong Ae KIM; F ARITA; P A OTTO. 2000. Estudo genético-clínico e molecular da neurofibromatose (nf). In: Xii congresso brasileiro de genética clínica- iii símposio luso-brasileiro de genética clínica. Brasil.
  298. Life Sciences Genetics
    L M J ALBANO; M ZATZ; Chong Ae KIM; D R BERTOLA; S M M SUGAYAMA et al. 2000. Clinical and molecular aspects of 25 brazilian friedreich's ataxia patients. In: Xii congresso brasileiro de genética clínica- iii símposio luso-brasileiro de genética clínica. Estados Unidos.
  299. Life Sciences Genetics
    Debora Romeo BERTOLA; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; L M J ALBANO; J D A CARNEIRO et al. 2000. Noonan syndrome: a clinical and genetic study of 31 patients. In: Xii congresso brasileiro genética clínica. Brasil.
  300. Life Sciences Neurology
    P S Gerritsen PLAGGERT; S M M SUGAYAMA; L M J ALBANO; D R BEROLA; C E ANDRADE et al. 2000. Simpson-golabi-behmel syndrome: report of 3 patients and review of the literature. In: Xii congresso brasileiro genética clínica. Brasil.
  301. Health Sciences Pediatrics, Perinatology and Child Health
    Sofia Mizuko Miura SUGAYAMA; M L F CHAUFFAILLE; K T ABE; Debora Romeo BERTOLA; L M J ALBANO et al. 2000. Clinical study and use if fish analysis to diagnostic approach of 21 brazilian patients with williams-beuren syndrome. In: Xii congresso brasileiro genética clínica. Brasil.
  302. Health Sciences Medicine (miscellaneous)
    Debora Romeo BERTOLA; S M M SUGAYAMA; L M J ALBANO; N M IKARI; M L L F CHAUFFAILLE et al. 2000. Fluorescence in situ hybridization (fish) analysis in the diagnosis of velo-cardio-facial syndrome and di george syndrome. In: Xii congresso brasileiro genética clínica. Brasil.
  303. Life Sciences Neuroscience (miscellaneous)
    L A PRAXEDES; R C Mingroni NETO; Chong Ae KIM; F ARITA; P A OTTO. 2000. Estudo genético-clínico e molecular da neurofibromatose (nf). In: Xii congresso brasileiro genética clínica. Brasil.
  304. Health Sciences Pediatrics, Perinatology and Child Health
    C H GONZALEZ; Maria Joaquina Marques DIAS; M VALENTE; J A PAZ; Chong Ae KIM. 2000. Hidrocefalia congênita associada à exposição de misoprestol no primeiro trimestre da gravidez. In: Xii congresso brasileiro genética clínica. Brasil.
  305. Life Sciences Genetics
    L M J ALBANO; M ZATZ; Chong Ae KIM; D R BERTOLA; Sofia Mizuko Miura SUGAYAMA et al. 2000. Clinical and molecular aspect of 25 brazilian friedreich´s ataxia patients. In: Xii congresso brasileiro genética clínica. Brasil.
  306. Life Sciences Neuroscience (miscellaneous)
    D R BERTOLA; Chong Ae KIM; A PEREIRA; G MOTA; J KRIEGER et al. 2000. Noonan-like/multiple giant cell lesion syndrome: a separate entity from noonan syndrome?. In: 50th annual meeting the american society of human genetics. Brasil.
  307. Life Sciences Neurology
    S M M SUGAYAMA; L SÁ; D R BERTOLA; L M J ALBANO; P S Gerritsen PLAGGERT et al. 2000. Ocular anomalies in 22 brazilian patients with williams-beuren syndrome. In: 50th annual meeting the american society of human genetics. Estados Unidos.
  308. Health Sciences Genetics (clinical)
    L A MAVROGIANNIS; A BAXOVA; S KUTILEK; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA et al. 2000. Mutations of the homeobox gene alx4 in parietal foramina and cranium bifidum: a component of defect 11 syndrome. In: 50th annual meeting the american society of human genetics. Estados Unidos.
  309. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; C E ANDRADE; T C Lyra NETO et al. 2000. Iris coloboma with ptosis; hypertelorism; and mental retardation: report of six brazilian patients. In: 50th annual meeting the american society of human genetics. Estados Unidos.
  310. Life Sciences Genetics
    L M J ALBANO; M ZATZ; Chong Ae KIM; D R BERTOLA; Sofia Mizuko Miura SUGAYAMA et al. 2000. Clinical and molecular aspects of 25 brazilian friedreich´s patients. In: 50th annual meeting the american society of human genetics. Estados Unidos.
  311. Health Sciences Pediatrics, Perinatology and Child Health
    C H GONZALEZ; M J Marques DIAS; M VALENTE; J A PAZ; Chong Ae KIM. 2000. Hidrocefalia congênita associada à exposição ao misoprostol no primeiro trimestre da gravidez. In: Xii congresso brasileiro de genética clínica. Brasil.
  312. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; M L CHAUFFAILLE; K T ABE; D R BERTOLA; L M J ALBANO et al. 2000. Clinical study and use of fish analysis to diagnostic aproach of 21 brazilian patients with williams-beuren syndrome. In: Xii congresso brasileiro de genética clínica. Brasil.
  313. Physical Sciences Environmental Science (miscellaneous)
    D R BERTOLA; S M M SUGAYAMA; L M J ALBANO; N M IKARI; M L CHAUFFAILLE et al. 2000. Fluorescence in situ hybridization (fish) analysis in the diagnosis of velo-cardio-facial syndrome and digeorge syndrome. In: Xii congresso brasileiro de genética clínica. Brasil.
  314. Health Sciences Medicine (miscellaneous)
    N SETIAN; M A MASCOLLI; Chong Ae KIM; Vaê DICHTCHELENIAN; D DAMIANI. 2000. Thinking about gh deficiency in sindromes like dubowitz. In: The endocrine society's 82nd annual meeting. Brasil.
  315. Health Sciences Medicine (miscellaneous)
    L A PRAXEDES; R C Migroni NETO; P A OTTO; Chong Ae KIM; F ARITA. 1999. Estudo dos sinais clínicos e relevância no diagnóstico da neurofibromatose. In: 45º congresso nacional de genética. Brasil.
  316. Life Sciences Genetics
    C L BOROVICK; E Auler BITENCOURT; A P M SILVA; Chong Ae KIM; S M M SUGAYAMA et al. 1999. Síndrome de pallister-killian: detecção do i (12p) por fish em mucosa oral. In: 45º congresso nacional de genética. Brasil.
  317. Life Sciences Genetics
    L M J ALBANO; Sofia Mizuko Miura SUGAYAMA; Debora Romeo BERTOLA; Fávia PUPPI; C Y UTAGAWA et al. 1999. Estudo clínico-laboratorial de mucopolissacaridoses: experiência de cinco anos. In: Xi congresso brasileiro de genética clínica. Brasil.
  318. Health Sciences Genetics (clinical)
    A BERNADINO; A FERRI; M R Passos BUENO; Chong Ae KIM; C M A NAKAIE et al. 1999. Triagem de mutações no gene cftr em 160 pacientes com fibrose cística do pâncreas. In: 45º congresso nacional de genética. Brasil.
  319. Life Sciences Genetics
    K E MIRANDA; A L BERNARDINO; A FERRI; M R Passo BUENO; C M A NAKAIE et al. 1999. Estudo da mutação r 334w em sete pacientes com fibrose cística do pâncreas. In: 45º congresso nacional de genética. Brasil.
  320. Life Sciences Genetics
    J MARCELINO; J D CARPTEM; W M SUWAIRI; S SCHWARTZ; C ROBBINS et al. 1999. The gene for the camptodactily-arthropathy-coxa vara-pericarditis syndrome (cacp) encode a secreted proteoglycan that is essential to normal joint function. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  321. Life Sciences Genetics
    Debora Romeo BERTOLA; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; L M J ALBANO; J D A CARNEIRO et al. 1999. Noonan syndrome: a clinical and genetic study of 31 patients. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  322. Health Sciences Medicine (miscellaneous)
    A L F BENARDINO; A FERRI; M R Passos BUENO; Chong Ae KIM; C M A NAKAIE et al. 1999. Molecular analysis in brazilian cystic fibrosis patients reveals five novel mutations. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  323. Life Sciences Genetics
    Sofia Mizuko Miura SUGAYAMA; M L F CHAUFFAILLE; K T ABE; Debora Romeo BERTOLA; L M J ALBANO et al. 1999. Clinical study and use of fish analysis to diagnostic approach of brazilian patients with williams-beuren syndrome. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  324. Health Sciences Medicine (miscellaneous)
    C Y UTAGAWA; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; D R BERTOLA; L A N OLIVEIRA et al. 1999. Dysostosis spondylocostal: a clinical study of 14 patients. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  325. Life Sciences Genetics
    M C VARELA; C FRIDMAN; T E MATSUMOTO; Chong Ae KIM; F KOK et al. 1999. A clinical; cytogenetic and molecular study of three brazilian patients with supernumerary inv dup(15) marker chromosomes. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  326. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; P LECUSSAN; E B CASELLA; L M J ALBANO; G OSELKA. 1999. Dilemma to chronic ventilation in werdnig-hoffmann disease: study of 16 patients. In: 49th annual meeting. the american society of human genetics. Estados Unidos.
  327. Health Sciences Neurology (clinical)
    Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM; M M S K INOUE; C Y UTAGAWA; D R BERTOLA et al. 1999. Importance of cyanide-nitroprussiade test for the dianosis of homocystinuria. In: Xx world congress of pathology/laboratory medicine; xxxiii brazilian; iv mercosul and the iii brazilian congress of laboratory management. Brasil.
  328. Life Sciences Neurology
    S M M SUGAYAMA; Chong Ae KIM; K T ABE; L M J ALBANO; D R BERTOLA et al. 1999. Use of fish analysis to diagnostic approach of 11 brazilian patients with williams-beuren syndrome. In: Xx world congress of pathology/laboratory medicine; xxxiii brazilian; iv mercosul and the iii brazilian congress of laboratory management. Brasil.
  329. Health Sciences Medicine (miscellaneous)
    J MARCELINO; J D CARPTEM; W M SUWAIRI; S SCHWARTZ; C ROBBINS et al. 1999. The gene for the camptodactyly-arthropathy-coxa vara-pericarditis syndrome (cacp) encodes a secreted proteoglycan that in essential to normal joint function. In: Annual meeting. the american society of human genetics. Estados Unidos.
  330. Life Sciences Genetics
    D R BEROLA; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; L M J ALBANO; J D A CARNEIRO et al. 1999. Noonan syndrome: a clinical and genetic study of 31 patients. In: Annual meeting. the american society of human genetics. Estados Unidos.
  331. Health Sciences Medicine (miscellaneous)
    A L BERNARDINO; A FERRI; M R Passo BUENO; Chong Ae KIM; C M A NAKAIE et al. 1999. Molecular analysis in brazilian cystic fibrosis patients reveals five novel mutations. In: Annual meeting. the american society of human genetics. Brasil.
  332. Life Sciences Genetics
    Sofia Mizuko Miura SUGAYAMA; M L F CHAUFFAILLE; C J ABE; D R BEROLA; L ALBANO et al. 1999. Clinical study and use of fish analysis to diagnostic approach of brazilian patients with williams-beuren syndrome. In: Annual meeting of the american society of human genetics. Brasil.
  333. Health Sciences Medicine (miscellaneous)
    S M M UTAGAWA; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; Debora Romeo BERTOLA; L A N OLIVEIRA et al. 1999. Dysostosis spondylocosital: a clinical study of 14 patients. In: Annual meeting. the american society of human genetics. Brasil.
  334. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; P LECUSSAN; E B CASELLA; M J ALBANO; G OSELKA. 1999. Dilemma to chronic ventilation in werdnig-hoffmann disease: study of 15 patients. In: Annual meeting. the american society of human genetics. Estados Unidos.
  335. Life Sciences Genetics
    A L A CUNHA; M H HIRATA; Chong Ae KIM; S T SANTOS; R D C HIRATA. 1999. Analysis of the 677c-t mutation in mthfr gene in individuals with tube neural defects. In: Xxviii reunião anual da sociedade brasileira de bioquímica e biologia molecular. Brasil.
  336. Social Sciences & Humanities Education
    S M M SUGAYAMA; M H VALENTE; L M J ALBANO; D R BERTOLA; C Y UTAGAWA et al. 1999. Síndrome de shprintzen-goldberg: relato de caso e revisão de literatura. In: Xi congresso brasileiro de genética clínica. Brasil.
  337. Health Sciences Medicine (miscellaneous)
    Maria Joaquina Marques DIAS; C H GONZALEZ; Chong Ae KIM; S M M SUGAYAMA; J A PAZ et al. 1999. Anomalias congênitas associadas à exposição in utero ao misoprostol: evidências de uma patogenia por ruptura vascular. In: Xi congresso brasileiro de genética clínica. Brasil.
  338. Health Sciences Medicine (miscellaneous)
    M H VALENTE; J A PAZ; Chong Ae KIM; S M M SUGAYAMA; D R BERTOLA et al. 1999. Avaliação tomográfica nas artrogriposes relacionadas ao uso materno de misoprostol. In: Xi congresso brasileiro de genética clínica. Brasil.
  339. Health Sciences Medicine (miscellaneous)
    C Y UTAGAWA; Chong Ae KIM; S M M SUGAYAMA; D R BERTOLA; L A N OLIVEIRA et al. 1999. Disostose espôndilo-costal: estudo de 14 pacientes. In: Xi congresso brasileiro de genética clínica. Brasil.
  340. Life Sciences Genetics
    E M G CARNIDE; J C BISÁRIO; E ESPREÁFICO; L M CRISTÓFANI; E B CASELLA et al. 1999. Síndrome de griscelli (sg): descrição de dois pacientes. In: Vii congresso brasileiro de alergia e imunologia em pediatria. Brasil.
  341. Health Sciences Medicine (miscellaneous)
    L M A RIBEIRO; A C PASTORINO; Chong Ae KIM; A S GRUMACH; C M A JACOB. 1999. Displasia metafisária tipo mckusick e imunodeficiência: relato de caso. In: Vii congresso brasileiro de alergia e imunologia em pediatria. Brasil.
  342. Health Sciences Pediatrics, Perinatology and Child Health
    M RODRIGUES; D BARBIERI; S M M SUGAYAMA; Chong Ae KIM; Y K L KODA. 1999. Síndrome de shwachman-bodian: descrição de caso. In: 1º conferência internacional de gastroenterologia; hepatologia e nutrição em pediatria. Brasil.
  343. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM; M M S K INOUE; C Y UTAGAWA; D R BERTOLA et al. 1999. Importance of cyanide-nitroprusside test for the diagnosis of homocystinuria. In: Xx world congress of pathology and laboratory medicine. Itália.
  344. Life Sciences Animal Science and Zoology
    S M M SUGAYAMA; Chong Ae KIM; K T ABE; L M J ALBANO; D R BERTOLA et al. 1999. Use of fish analysis to diagnostic approach of 11 brasilian patients with williams-beuren syndrome. In: Congressso de patologia e medicina laboratorial. 33º brasileiro- 4º mercosul- 20º mundial- 3º gestão laboratorial. Itália.
  345. Health Sciences Pediatrics, Perinatology and Child Health
    A L A CUNHA; M H HIRATA; Chong Ae KIM; S T SANTOS; R D C HIRATA. 1999. Analysis of the 677c - t polymorphism in the methylenetetrahydrofolate reductase gene as a risk factor to neural tube defects. In: Congressso de patologia e medicina laboratorial. 33º brasileiro- 4º mercosul- 20º mundial- 3º gestão laboratorial. Brasil.
  346. Life Sciences Genetics
    C I E CASTRO; D R BERTOLA; S M M SUGAYAMA; Chong Ae KIM; C P KOIFFMANN. 1999. Cromossomo 4 em anel: estrutura e correlação genótipo-fenótipo. In: 45º congresso nacional de genética. Brasil.
  347. Life Sciences Genetics
    S A S FONSECA; C L BOROVICK; R MULLER; Chong Ae KIM; A M MORGANTE. 1999. Dissomia uniparenteral como causa de doença genética. In: 45º congresso nacional de genética. Brasil.
  348. Health Sciences Medicine (miscellaneous)
    L A PRAXEDES; R C Migroni NETO; P A OTTO; Chong Ae KIM; F ARITA. 1999. Estudo genético-clínico e molecular da neurofibromatose. In: 45º congresso nacional de genética. Brasil.
  349. Life Sciences Genetics
    E P P SILVA; Chong Ae KIM; S M M SUGAYAMA; C Y UTAGAWA; C P KOIFFMANN. 1999. Análise molecular de deleções 4p associadas com a síndrome de wolf-hirschhorn. In: 45º congresso nacional de genética. Brasil.
  350. Life Sciences Animal Science and Zoology
    M J Marques DIAS; Chong Ae KIM; S M M SUGAYAMA; J A PAZ; M HIRATA et al. 1998. Artrogripose múltipla e exposição in útero ao misoprostol. In: Vi congreso anual de la academia iberoamericana de neurologia pediátrica. Brasil.
  351. Life Sciences Genetics
    E P P SILVA; Chong Ae KIM; S M M SUGAYAMA; C P KOIFFMANN. 1998. Estudo clínico e citogenético de pacientes com deleção do braço curto do cromossomo 4. In: 44º congresso nacional de genética. Brasil.
  352. Health Sciences Medicine (miscellaneous)
    C FRIDMAN; R M ZANELATO; N SETIAN; Chong Ae KIM; C P KOIFFMANN. 1998. Imprinting genômico e a síndrome de prader-willi: estudo dos mecanismos genéticos importantes para diagnóstico e aconselhamento genético. In: 44º congresso nacional de genética. Brasil.
  353. Health Sciences Medicine (miscellaneous)
    C Y UTAGAWA; Chong Ae KIM; S M M SUGAYAMA; D R BERTOLA; M J Marques DIAS et al. 1998. Door syndrome: the first brazilian report with an autosomal recessive form. In: Annual meeting of the american society of human genetics. Estados Unidos.
  354. Life Sciences Neuroscience (miscellaneous)
    M E J CECCON; I MOHAMED; E DINIZ; Chong Ae KIM; V KREBS et al. 1998. Osteogênese impefeita: forma neonatal com apresentação atípica. In: Xvi congresso brasileiro de perinatologia e xiii reunião de enfermagem perinatal. Brasil.
  355. Health Sciences Medicine (miscellaneous)
    M C FALCÃO; Chong Ae KIM; J L A RAMOS; C R LEONE. 1998. Síndrome de joubert como dianóstico diferencial de insuficiência respiratória neonatal. In: Xvi congresso brasileiro de perinatologia e xiii reunião de enfermagem perinatal. Brasil.
  356. Life Sciences Genetics
    S M M SUGAYAMA; D R BERTOLA; L M J ALBANO; C Y UTAGAWA; C E F ANDRADE et al. 1998. Report of two patients with ectodermal dysplasia; hypercholesterolemia and lypodistrophy - aredyld syndrome?. In: X congresso brasileiro de genética clínica e i simpósio luso-brasileiro de genética médica. Brasil.
  357. Life Sciences Neurology
    D R BERTOLA; C Y UTAGAWA; S M M SUGAYAMA; L M J ALBANO; C E F ANDRADE et al. 1998. Aec syndrome: further evidence for the variable expressivity of this condition. In: X congresso brasileiro de genética clínica e i simpósio luso-brasileiro de genética médica. Brasil.
  358. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Chong Ae KIM; S M M SUGAYAMA; E A Auler BITTENCOURT; C L BOROVIK. 1998. Identification of a ring y chromosome with mosaicism: cytogenetic analysis and fluorescent in situ hybridization. In: X congresso brasileiro de genética clínica e i simpósio luso-brasileiro de genética médica. Brasil.
  359. Life Sciences Neurology
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; D R BERTOLA; Maria Joaquina Marques DIAS; C VARGAS et al. 1998. Door syndrome: the first brazilian report with an autosomal recessive form. In: 48th annual meeting the american society of human genetics. Estados Unidos.
  360. Life Sciences Genetics
    Debora Romeo BERTOLA; M R WHITTLE; C L BOROVIK; Sofia Mizuko Miura SUGAYAMA; Y K L KODA et al. 1998. Diploid-triploid mosaicism: discordant phenotype in monozygotic twins. In: 48th annual meeting the american society of human genetics. Estados Unidos.
  361. Health Sciences Medicine (miscellaneous)
    Maria Joaquina Marques DIAS; Chong Ae KIM; S M SUGAYAMA; J A PAZ; M T HIRATA et al. 1998. Artrogripose múltipla e exposição in útero ao misoprostol. In: Vi congreso academia iberoamericana de neurologia pediatrica- x curso postgrado de neurologia pediatrica. Espanha.
  362. Health Sciences Neurology (clinical)
    C H GONZALEZ; Maria Joaquina Marques DIAS; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; J A PAZ et al. 1998. Congenital abnormalities associated with misoprostol exposure in utero: evidence for a vascular disruption pathogenesis. In: 19th annual workshop on malformations & morphogenesis. Canadá.
  363. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; F KOK; M C FALCÃO; Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM. 1998. The joubert syndrome the second report with congenital cardiac defect. In: 48th annual meeting the american society of human genetics. Brasil.
  364. Life Sciences Genetics
    D R BEROLA; M R WHITTLE; C L BOROVIK; S M M SUGAYAMA; Y K L KODA et al. 1998. Diploid-triploid mosaicism: discordant phenotype in monozygotic twins. In: Annual meeting the american society of human genetics. Estados Unidos.
  365. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; S M MARIE; U CONTI; M J Marques DIAS; M R Passos BUENO et al. 1998. Permanent mechanical ventilation in werdnig-hoffman disease clinical and ethical aspects. In: Annual meeting the american society of human genetics. Brasil.
  366. Health Sciences Genetics (clinical)
    S M M SUGAYAMA; Chong Ae KIM; L M J ALBANO; D R BERTOLA; C Y UTAGAWA et al. 1998. Natural history of 24 patients with trisomy 18 and 20 patients with trisomy 13. In: Annual meeting the american society of human genetics. Estados Unidos.
  367. Health Sciences General Medicine
    S M GOMES; Y K L KODA; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; I ASSUPÇÃO et al. 1998. Síndrome de johanson-blizzard; uma causa rara de insuficiência pancreática. relato de um caso. In: Xiii congreso latinoamericano y iv iberoamericano de gastroenterología pediátrica y nutrición. México.
  368. Health Sciences Medicine (miscellaneous)
    S M HUSON; C H GONZALEZ; M J Marques DIAS; A GLASER; J HARPER et al. 1998. Congenital malformations after failed medical termination of pregnancy. In: Manchester birth defects conference. Brasil.
  369. Health Sciences Pediatrics, Perinatology and Child Health
    C H GONZALEZ; M J Marques DIAS; Chong Ae KIM; S M M SUGAYAMA; J A PAZ et al. 1998. Congenital abnormalities associated with misoprostol exposure in utero: evidences for a vascular disruption pathogenesis. In: Smith 19th annual workshop on malformations & morphogenesis. Canadá.
  370. Social Sciences & Humanities Psychology (miscellaneous)
    M F BARBA; L M J ALBANO; Chong Ae KIM; M T MOREIRA; A S DORIA et al. 1997. Síndrome de melnick-needles: relato da primeira família brasileira com transmissão mãe-filha. In: 27ª jornada paulista de radiologia. Brasil.
  371. Social Sciences & Humanities Language and Linguistics
    M F BARBA; M T MOREIRA; A S DORIA; C Y UTAGAWA; C E F ANDRADE et al. 1997. Síndrome de hajdu-cheney. relato de caso e revisão de literatura. In: 27ª jornada paulista de radiologia. Brasil.
  372. Life Sciences Neurology
    A A ESPINDOLA; U C REED; S K N MARIE; Chong Ae KIM; J E P GURGEL et al. 1997. Spinal muscular atrophy. clinical and genetic analysis of 28 cases. In: . Estados Unidos.
  373. Social Sciences & Humanities Psychology (miscellaneous)
    L M J ALBANO; Chong Ae KIM; S M M SUGAYAMA; C Y UTAGAWA; C E F ANDRADE et al. 1997. Síndrome de melnick-needles: relato da primeira família brasileira com transmissão mãe-filha e revisão da literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nodeste. Brasil.
  374. Social Sciences & Humanities Psychology (miscellaneous)
    C Y UTAGAWA; M F BARBA; C E F ANDRADE; S M M SUGAYAMA; Chong Ae KIM et al. 1997. Síndrome de hadju-cheney. relato de caso e revisão de literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nodeste. Brasil.
  375. Health Sciences Neurology (clinical)
    Chong Ae KIM; M R Passo BUENO; S K MARIE; A CERQUEIRA; U CONTI et al. 1997. Clinical and molecular analysis in spinal muscular atrophy brazilian patients. In: 47th annual meeting of american society of human genetics. Estados Unidos.
  376. Life Sciences Genetics
    C E F ANDRADE; H R P MOLLA; C Y UTAGAWA; S M M SUGAYAMA; D R BERTOLA et al. 1997. Síndrome de gorlin-goltz: estudo genético-clínico em duas famílias e revisão de literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nodeste. Brasil.
  377. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; C E F ANDRADE; L M J ALBANO; C Y UTAGAWA; Chong Ae KIM et al. 1997. Síndrome de williams-beuren: estudo genético-clínico de 13 afetadosm e revisão de literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nodeste. Brasil.
  378. Health Sciences Medicine (miscellaneous)
    V K LEE; L M J ALBANO; Chong Ae KIM; M F BARBA; J M A CARDIERI et al. 1997. Síndrome de melnick-needles com hipertensão pulmonar grave - relato de caso. In: Vii congresso brasileiro de pneumologia pediátrica e vii jornada brasileira de fibrose cística. Brasil.
  379. Social Sciences & Humanities Psychology (miscellaneous)
    L M J ALBANO; Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; C E ANDRADE et al. 1997. Síndrome de melnick-needles: relato da primeira família brasileira com transmissão mãe-filha e revisão da literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nordeste. Brasil.
  380. Social Sciences & Humanities Psychology (miscellaneous)
    C Y UTAGAWA; M F BARBA; C E ANDRADE; Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM et al. 1997. Síndrome de hajdu-cheney. relato de caso e revisão de literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nordeste. Brasil.
  381. Life Sciences Genetics
    C E F ANDRADE; H R P MOLLA; C Y UTAGAWA; Sofia Mizuko Miura SUGAYAMA; Debora Romeo BERTOLA et al. 1997. Síndrome de gorlin-goltz: estudo genético-clínico em duas famílias e revisão de literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nordeste. Brasil.
  382. Social Sciences & Humanities Psychology (miscellaneous)
    Sofia Mizuko Miura SUGAYAMA; C E ANDRADE; L M J ALBANO; C Y UTAGAWA; Chong Ae KIM et al. 1997. Síndrome de williams-beuren: estudo genético-clínico de 13 afetados e revisão de literatura. In: Ix congresso brasileiro de genética clínica e xii encontro de genética do nordeste. Brasil.
  383. Health Sciences Pharmacology (medical)
    F R VARGAS; D BRUNONI; C H GONZALEZ; Chong Ae KIM; V F A MELONI et al. 1997. Investigation of the teratogenic potential of misoprostol. In: Behavioral toxicology society annual meeting. Estados Unidos.
  384. Life Sciences Neuroscience (miscellaneous)
    A A ESPINDOLA; U C REED; S K N MARIE; Chong Ae KIM; J E P GURGEL et al. 1997. Xvi world congress of neurology. In: Xvith world congress of neurology. Argentina.
  385. Life Sciences Neurology
    Chong Ae KIM; M R Passo BUENO; S K MARIE; A CERQUEIRA; U CONTI et al. 1997. Clinical and molecular analysis in spinal muscular atrophy brazilian patients. In: 1997 annual meeting of american society of human genetics. Estados Unidos.
  386. Health Sciences Genetics (clinical)
    L F B SARMENTO; E R BORTOLINI; Chong Ae KIM; C A M NAKAIE; C M A NAKAIE et al. 1997. Triagem de mutações em pacientes com fibrose cística. In: 43º congresso nacional de genética. Brasil.
  387. Health Sciences Neurology (clinical)
    Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; Chong Ae KIM; V H KOCH; M FUJIMURA et al. 1996. A boy with microcephaly and congenital nephrotic syndrome due to diffuse mesangial sclerosis: galloway-mowat syndrome. In: Viii reunião anual da sociedade brasileira de genética clínica. Brasil.
  388. Life Sciences Neurology
    Chong Ae KIM; M R Passo BUENO; S K MARIE; A CERQUEIRA; U C REED et al. 1996. Molecular analysis of spinal muscular atrophy in brazilian patients. In: Viii reunião anual da sociedade brasileira de genética clínica. Brasil.
  389. Health Sciences Genetics (clinical)
    Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; Debora Romeo BERTOLA; R GIULIANI; M G BURIN et al. 1996. Galactosialidosis in a 18 - year - old brazilian boy. In: Viii reunião anual da sociedade brasileira de genética clínica. Brasil.
  390. Life Sciences Genetics
    M C VARELA; R M ZANELATO; C I E CASTRO; C E F ANDRADE; Chong Ae KIM et al. 1996. Deleção intersticial 18q: estudo genético-clínico de um caso. In: 42nd national congress of genetics. Brasil.
  391. Health Sciences Medicine (miscellaneous)
    C E F ANDRADE; S M M SUGAYAMA; C Y UTAGAWA; D R BERTOLA; D BANWART et al. 1996. Anomalia de kleeblattschadel ou do crânio em trevo: etiologia em discussão. In: 42nd national congress of genetics. Brasil.
  392. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; C Y UTAGAWA; C E F ANDRADE; Chong Ae KIM; C H GONZALEZ. 1996. Síndrome de fg: relato de 2 casos e revisão de literatura. In: 42nd national congress of genetics. Brasil.
  393. Life Sciences Genetics
    C Y UTAGAWA; S M M SUGAYAMA; C E F ANDRADE; Chong Ae KIM; C H GONZALEZ. 1996. Síndrome de robinow: relato de 5 casos. In: 42nd national congress of genetic. Brasil.
  394. Life Sciences Genetics
    C E F ANDRADE; S M M SUGAYAMA; C Y UTAGAWA; Chong Ae KIM; C P KOIFFMANN et al. 1996. Síndrome do triplo x: relato de 4 casos. In: 42nd national congress of genetics. Brasil.
  395. Life Sciences Genetics
    C I E CASTRO; S M M SUGAYAMA; C Y UTAGAWA; C E F ANDRADE; Chong Ae KIM et al. 1996. Estudo genético-clínico de deleção intersticial do braço longo do cromossomo 13. In: 42nd national congress of genetics. Brasil.
  396. Life Sciences Neurology
    Chong Ae KIM; M R Passos BUENO; S M MARIE; A CERQUEIRA; U REED et al. 1996. Molecular analysis of spinal muscular atrophy in brazilian patients. In: 9th international congress of humn genetics. Brasil.
  397. Health Sciences Genetics (clinical)
    C Y UTAGAWA; S M M SUGAYAMA; E M RIBEIRO; D R BERTOLA; E R BABA et al. 1996. Infantile sialic acid storage disease. case report. In: 9th international congress of human genetics. Brasil.
  398. Health Sciences Genetics (clinical)
    S M M SUGAYAMA; C Y UTAGAWA; D R BERTOLA; R GIUGLIANI; M G BURIN et al. 1996. Galactosialidosis in a 18 year old brazilian boy. In: 9th international congress of human genetics. Brasil.
  399. Health Sciences Medicine (miscellaneous)
    C E F ANDRADE; S M M SUGAYAMA; C Y UTAGAWA; Chong Ae KIM; V H KOCH et al. 1996. A boy with microcephaly and congenital nephrotic syndrome due to diffuse mesangial sclerosis: galloway-mowat syndrome. In: 9th international congress of human genetics. Brasil.
  400. Life Sciences Genetics
    M C VARELA; R M ZANELATO; C I E CASTRO; C E F ANDRADE; Chong Ae KIM et al. 1996. Deleção intersticial 18p: estudo genético-clínico de um caso. In: 42o congresso nacional de genética. Brasil.
  401. Life Sciences Genetics
    C I E CASTRO; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; C E F ANDRADE; Chong Ae KIM et al. 1996. Estudo genético-clínico de deleção intersticial do braço longo do cromossomo 13. In: 42o congresso nacional de genética. Brasil.
  402. Health Sciences Medicine (miscellaneous)
    C E F ANDRADE; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; Chong Ae KIM; C P KOIFFMANN et al. 1996. Síndrome do triplo x: relato de 4 casos. In: 42o congresso nacional de genética. Brasil.
  403. Social Sciences & Humanities Language and Linguistics
    C Y UTAGAWA; Sofia Mizuko Miura SUGAYAMA; C E F ANDRADE; Chong Ae KIM; C H GONZALEZ. 1996. Síndrome de robinow. In: 42o congresso nacional de genética. Brasil.
  404. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; C Y UTAGAWA; C E F ANDRADE; Chong Ae KIM; C H GONZALEZ. 1996. Síndrome fg: relato de 2 casos e revisão de literatura. In: 42o congresso nacional de genética. Brasil.
  405. Health Sciences General Medicine
    C E F ANDRADE; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; Debora Romeo BERTOLA; D BANWART et al. 1996. Anomalia de kleeblattschadel ou do crânio em trevo. In: 42o congresso nacional de genética. Brasil.
  406. Life Sciences Neurology
    Chong Ae KIM; M R Passo BUENO; S K N MARIE; A CERQUEIRA; U REED et al. 1996. Molecular analysis of spinal muscular atrophy in brazilian patients. In: 9th international congress of human genetics. Brasil.
  407. Health Sciences Genetics (clinical)
    I R ASSUMPÇÃO; A M P HAYTZMANN; C L MARTINEZ; E ROZADA; Chong Ae KIM et al. 1996. Aspectos ultra-estruturais jejunais em paciente com gangliosidose gm1. In: Xii congresso latino-americano de gastroenterologia pediátrica e nutrição. Brasil.
  408. Health Sciences Genetics (clinical)
    S M M SUGAYAMA; E M RIBEIRO; Debora Romeo BERTOLA; E R BABA; R GIULIANI et al. 1996. Infantile sialic acid storage disease. case report. In: Viii reunião anual da sociedade brasileira de genética clínica. Brasil.
  409. Social Sciences & Humanities Psychology (miscellaneous)
    C Y UTAGAWA; D R BERTOLA; S M M SUGAYAMA; L MACHADO; Chong Ae KIM et al. 1995. Deficiência intersticial do braço longo do cromossomo 12(12q21) associada a retardo mental. In: 41º congresso nacional de genética. Brasil.
  410. Life Sciences Genetics
    M C VARELA; C I E CASTRO; Chong Ae KIM; C Y UTAGAWA; C P KOIFFMANN. 1995. Estudo genético-clínico da síndrome de wolf-hirschhorn. apresentação de um caso. In: 41º congresso nacional de genética. Brasil.
  411. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; C Y UTAGAWA; S M M SUGAYAMA; D R BERTOLA; C E F ANDRADE et al. 1995. Deficiência distal do braço longo do cromossomo 13 associada a holoprosencefalia. In: 41º congresso nacional de genética. Brasil.
  412. Social Sciences & Humanities Language and Linguistics
    C Y UTAGAWA; D R BERTOLA; S M M SUGAYAMA; H Y LI; Chong Ae KIM et al. 1995. Condrodisplasia metafisária tipo jansen: relato de caso e revisão de literatura. In: 41º congresso nacional de genética. Brasil.
  413. Life Sciences Genetics
    A FERRI; Chong Ae KIM; M ZATZ; B VANDERBORGHT; T ROZOV et al. 1995. Estudo de mutações do gene da fibrose cística. In: 41º congresso nacional de genética. Brasil.
  414. Life Sciences Neurology
    V H KOCH; E A FURUSAWA; Chong Ae KIM; M D FUJIMURA; L B SALDANHA et al. 1995. Autosomal dominant hemolytic uremic syndrome. In: Tenth congress of the international pediatric nephrology association. Chile.
  415. Health Sciences Pediatrics, Perinatology and Child Health
    D R BERTOLA; E C DOMINGUES; C Y UTAGAWA; S M SUGAYAMA; Chong Ae KIM et al. 1995. Síndrome de blefarofimose; ptose e epicanto inverso: estudo de dois casos. In: 41º congresso nacional de genética. Brasil.
  416. Life Sciences Neurology
    D R BERTOLA; E Z DOMINGUES; S M M UTAGAWA; C E F ANDRADE; Chong Ae KIM et al. 1995. Síndrome de rothmund-thomson: descrição de caso. In: 41º congresso nacional de genética. Brasil.
  417. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    C E F ANDRADE; C Y UTAGAWA; D R BERTOLA; G PORTA; I R MIURA et al. 1995. Estudo citogenético de 9 pacientes com síndrome de alagille. In: 41º congresso nacional de genética. Brasil.
  418. Health Sciences Neurology (clinical)
    E A FURUSAWA; V H KOCH; M D FUJIMURA; T S OKAY; L B SALDANHA et al. 1995. Sindrome hemolítico uremica familiar - relato de caso. In: Viii congresso brasileiro de nefrologia pediátrica. Brasil.
  419. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; C E F ANDRADE; Maria Joaquina Marques DIAS et al. 1995. Hiperostose e artrogripose em um recém-nascido associados ao uso materno de misopostol durante a gestação. In: Vii reunião da sociedade brasileira de genética clínica. Brasil.
  420. Social Sciences & Humanities Psychology (miscellaneous)
    Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; C E ANDRADE; Chong Ae KIM; C H GONZALEZ. 1995. Síndrome unha-patela: estudo de 2 casos e revisão de literatura. In: Vii reunião da sociedade brasileira de genética clínica. Brasil.
  421. Social Sciences & Humanities Education
    C Y UTAGAWA; Debora Romeo BERTOLA; C E F ANDRADE; Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM et al. 1995. Door-syndrome. relato de caso e revisão de literatura. In: Vii reunião da sociedade brasileira de genética clínica. Brasil.
  422. Social Sciences & Humanities Linguistics and Language
    C Y UTAGAWA; Mauricio F MONACO; Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; J D A CARNEIRO et al. 1994. Anomalia de pelger-huet. relato de três casos e revisão da literatura. In: Vi reunião anual da sbgc. Brasil.
  423. Social Sciences & Humanities Psychology (miscellaneous)
    Debora Romeo BERTOLA; C R LEONE; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome fg: relato de caso. In: Vi reunião anual da sbgc. Brasil.
  424. Life Sciences Genetics
    C H GONZALEZ; S M M SYGAYAMA; E M RIBEIRO; Chong Ae KIM; C I E CASTRO et al. 1994. Interstitial deletion of the long arm of chromosome 14 involving band 14q31 in a boy with a mca/mr syndrome. In: Iiº congreso latinoamericano de genética y 3º mutagénesis; carcinogénesis y teratogénesis ambiental. México.
  425. Health Sciences Neurology (clinical)
    M J Marques DIAS; J A PAZ; José L GHERPELLI; Chong Ae KIM; C LEONE et al. 1994. Limb defects with or without mobius sequence and misoprostol use in first trimester of pregnancy. In: Seventh congress of the international child neurology association. Estados Unidos.
  426. Social Sciences & Humanities Psychology (miscellaneous)
    Debora Romeo BERTOLA; Sofia Mizuko Miura SUGAYAMA; Maria Ignez SAITO; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome de char: uma "nova" condição de herança autossômica dominante. In: 40º congresso nacional de genética. Brasil.
  427. Life Sciences Parasitology
    M C RIVITTI; C Y UTAGAWA; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome de crouzon associada a acanthosis nigricans. In: 40º congresso nacional de genética. Brasil.
  428. Health Sciences Medicine (miscellaneous)
    C UTAGAWA; E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome da picnodisostose: relato de 3 casos. In: 40º congresso nacional de genética. Brasil.
  429. Social Sciences & Humanities Language and Linguistics
    Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; Chong Ae KIM; C H GONZALEZ. 1994. Forame parietal: relato de uma família e revisão de literatura. In: 40º congresso nacional de genética. Brasil.
  430. Social Sciences & Humanities Psychology (miscellaneous)
    C Y UTAGAWA; Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; Chong Ae KIM; C R LEONE et al. 1994. Efeitos do uso materno do warfarin no feto (fetal warfarin syndrome): relato de caso. In: 40º congresso nacional de genética. Brasil.
  431. Social Sciences & Humanities Education
    Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome de jarcho levin: relato de 2 irmãos afetados e revisão de literatura. In: 40º congresso nacional de genética. Brasil.
  432. Social Sciences & Humanities Psychology (miscellaneous)
    E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; C UTAGAWA; T ROZOV; Chong Ae KIM et al. 1994. Displasia torácica - asfixiante: relato de caso e revisão de literatura. In: 40º congresso nacional de genética. Brasil.
  433. Health Sciences Pediatrics, Perinatology and Child Health
    E M RIBEIRO; C Y UTAGAWA; Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM; C H GONZALEZ. 1994. Neurofibromatose tipo i; anemia falciforme e talassemia em um menino de 12 anos. In: 40º congresso nacional de genética. Brasil.
  434. Life Sciences Neurology
    Chong Ae KIM; E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; C UTAGAWA; C H GONZALEZ. 1994. Síndrome de noonan com neurofibromatose - relato de caso. In: 40º congresso nacional de genética. Brasil.
  435. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; M J Marques DIAS; M C RIVITTI et al. 1994. Síndrome de ehlers-danlos tipo vi: relato de caso. In: 40º congresso nacional de genética. Brasil.
  436. Health Sciences Medicine (miscellaneous)
    Celia P KOIFFMANN; C ROSENBERG; L M F FERREIRA; D A M KANEREK; C I E CASTRO et al. 1994. Dup(1)(q32 qter) e del (4)(q33 qter)pat em paciente com malformações congênitas múltiplas e atraso do desenvolviemnto neuropsicomotor. In: 40º congresso nacional de genética. Brasil.
  437. Health Sciences Neurology (clinical)
    D R BERTOLA; C H GONZALEZ; Chong Ae KIM; E M RIBEIRO. 1994. Associação charge: causa de malformações múltiplas: relato de 3 casos. In: Vi congresso paulista de pediatria. Brasil.
  438. Health Sciences Pediatrics, Perinatology and Child Health
    M F BARBA; R A MEDEIROS; Gilberto C GOMES; A D DEUTSCH; Chong Ae KIM et al. 1994. Artrogripose e malformações múltiplas em 2 crianças associados com o uso de misoprostol (cytotec) no 1º trimestre de gravidez. In: Xxiv jornada paulista de radiologia e do xv curso de reciclagem. Brasil.
  439. Life Sciences Genetics
    C H GONZALEZ; Chong Ae KIM; E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA. 1994. Estudo genético-clínico de 11 pacientes com síndrome de noonan. In: Vi congresso paulista de pediatria. Brasil.
  440. Life Sciences Genetics
    E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome de beckwith-wiedemann: estudo genético-clínico em seis casos. In: Vi congresso paulista de pediatria. Brasil.
  441. Health Sciences Pediatrics, Perinatology and Child Health
    Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; F V M SÁ; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome de williams: causa de hipercalcemia e anomalias renais na infância. In: Vi congresso paulista de pediatria. Brasil.
  442. Health Sciences Medicine (miscellaneous)
    Debora Romeo BERTOLA; D BARBIERI; Chong Ae KIM; C H GONZALEZ. 1994. Síndrome da poliesplenia com agenesia do sacro. In: Vi reunião anual da sbgc. Brasil.
  443. Life Sciences Genetics
    E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; C Y UTAGAWA; J L K Del CAMPO; Chong Ae KIM et al. 1994. Hemocromatose neonatal: relato de caso e revisão de literatura. In: Vi reunião anual da sbgc. Brasil.
  444. Health Sciences Neurology (clinical)
    E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; Debora Romeo BERTOLA; C UTAGAWA; Chong Ae KIM et al. 1994. Osteopetrose letal: estudo de três casos. In: Vi reunião anual da sbgc. Brasil.
  445. Health Sciences Medicine (miscellaneous)
    Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; Chong Ae KIM; L M CRISTÓFANI; Vicente Odone FILHO et al. 1994. Disqueratose congênita: estudo de 3 casos. In: Vi reunião anual da sbgc. Brasil.
  446. Health Sciences Medicine (miscellaneous)
    Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; Chong Ae KIM; C H GONZALEZ. 1994. Retinite pigmentosa e surdez associados a frouxidão articular. In: Vi reunião anual da sbgc. Brasil.
  447. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; C H GONZALEZ. 1994. Baixa estatura; polidactilia e luxações articulares: descrição de um caso. In: Vi reunião anual da sbgc. Brasil.
  448. Health Sciences Genetics (clinical)
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; C UTAGAWA; Y K L KODA et al. 1994. Linfangiectasias intestinal e renal associadas a coartação de aorta: descrição de um caso. In: Vi reunião anual da sbgc. Brasil.
  449. Life Sciences Clinical Biochemistry
    C H GONZALEZ; A C C BARBOSA; A Vianna MORGANTE; S M M SUGAWAMA; Chong Ae KIM et al. 1993. Clinical spectrum variability in tetrasomy 18p. In: Seventeenth international congress of genetics. Inglaterra.
  450. Health Sciences Medicine (miscellaneous)
    R S C ALVES; J A PAZ; A M C TSANAELIS; M CARVALHO; Chong Ae KIM et al. 1993. Distrofia muscular congênita com envolvimento encefálico - relato de caso. In: I congresso paulista de neurologia e psiquiatria infantil. Brasil.
  451. Social Sciences & Humanities Psychology (miscellaneous)
    E M RIBEIRO; Sofia Mizuko Miura SUGAYAMA; Chong Ae KIM; C H GONZALEZ. 1993. Síndrome da alcoolização fetal: relato de dois irmãos afetados e revisão de literatura. In: 39º congresso nacional de genética. Brasil.
  452. Health Sciences Neurology (clinical)
    Chong Ae KIM; M FLORES; C H GONZALEZ. 1993. Hiperostose craniana isolada: relato de caso. In: 39º congresso nacional de genética. Brasil.
  453. Social Sciences & Humanities Psychology (miscellaneous)
    Sofia Mizuko Miura SUGAYAMA; Debora Romeo BERTOLA; Chong Ae KIM; G SALOMÃO; Francisco R CARRAZZA et al. 1993. Osteólise carpotarsal: relato de caso e revisão de literatura. In: 39º congresso nacional de genética. Brasil.
  454. Health Sciences Psychiatry and Mental Health
    Sofia Mizuko Miura SUGAYAMA; A C C BARBOSA; N SETIAN; Chong Ae KIM; A Vianna MORGANTE et al. 1993. Deleção do 18p e isocromossomo 18q em mosaico em uma paciente com ptose palpebral; baixa estatura e retardo mental. In: 39º congresso nacional de genética. Brasil.
  455. Social Sciences & Humanities Language and Linguistics
    Celia P KOIFFMANN; D H SOUZA; Chong Ae KIM; C I E CASTRO; Jordão Correa NETO et al. 1993. Dup(4) (q25 qter) mat e dup(4) (q31.3 qter) pat: estudo da variabilidade fenotípica na dup(4q). In: 39º congresso nacional de genética. Brasil.
  456. Physical Sciences Artificial Intelligence
    M F L QUEIROS; L M M A CAMPOS; Valdenice L M Tuma CALIL; D R ANDRADE; José L GHERPELLI et al. 1993. Misoprostol (cytotec) x sequência de moebius. In: Iii congresso latino-americano de perinatologia e do v simpósio nacional de hipertensão na gravidez. Brasil.
  457. Health Sciences Medicine (miscellaneous)
    M F BARBA; Gilberto C GOMES; L S R SADECK; Valdenice L M Tuma CALIL; Eduardo Juan TROSTER et al. 1993. Diabetes mellitus e malformações da coluna vertebral - diagnóstico por imagem - relato de 1 caso. In: Xxiii jornada paulista de radiologia. Brasil.
  458. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; J C NETO; W H C TARGA; C H GONZALEZ. 1993. Artogripose distal tipo ii b - relato de uma família. In: V reunião anual da sbgc. Brasil.
  459. Health Sciences Medicine (miscellaneous)
    E M RIBEIRO; Chong Ae KIM; M F BARBA; L SADECK; C LEONE et al. 1993. Malformações congênitas em filhos de mães diabéticas: relato de quatro casos. In: V reunião anual da sbgc. Brasil.
  460. Social Sciences & Humanities Psychology (miscellaneous)
    Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; Chong Ae KIM; N A CRUZ; M D FUJIMURA et al. 1993. Síndrome de williams: relato de caso. In: V reunião anual da sbgc. Brasil.
  461. Life Sciences Neuroscience (miscellaneous)
    J C NETO; R MULLER; D SOARES; M C RIVITTI; M N SOTTO et al. 1993. Xeroderma pigmentoso - duas formas de apresentação grave com manifestações neurológicas. In: V reunião anual da sbgc. Brasil.
  462. Life Sciences Animal Science and Zoology
    C H GONZALEZ; F R VARGAS; Perez A B A; Chong Ae KIM; D BRUNONI et al. 1993. Defeitos de extremidades e/ou sequencia de moebius em 13 crianças associado ao uso de misoprostol no primeiro trimestre de gestação. In: V reunião anual da sbgc. Brasil.
  463. Health Sciences Pediatrics, Perinatology and Child Health
    D R BERTOLA; Chong Ae KIM; Carlos Alberto R ALVES; Jordão Correa NETO; C H GONZALEZ. 1993. Acro-osteólise. microcefalia; nistagmo e baixa estatura: uma nova síndrome?. In: 39º congresso nacional de genética. Brasil.
  464. Health Sciences Pediatrics, Perinatology and Child Health
    F R VARGAS; Perez A B A; C R LEONE; J C Herena JUNIOR; J C C ALMEIDA et al. 1993. Sequência de moebius e/ou defeitos de extremidades associada ao uso de misoprostol no 1º trimestre de gestação. In: Xii congresso brasileiro de neurologia e psiquiatria infantil. Brasil.
  465. Health Sciences Medicine (miscellaneous)
    R MULLER; J C NETO; Debora Romeo BERTOLA; F V M SÁ; Sofia Mizuko Miura SUGAYAMA et al. 1993. Ectrodactilia com retardo mental - relato de um caso. In: V reunião anual da sbgc. Brasil.
  466. Life Sciences Genetics
    Chong Ae KIM. 1993. Síndrome de bloom: aspectos clínico-laboratoriais de dois pacientes. In: Xxviii congresso brasileiro de pediatria. Brasil.
  467. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; E DINIZ; C H GONZALEZ; J L A RAMOS; S M M SUGAYAMA. 1992. Síndrome de down: complicações neonatais. In: V congresso paulista de pediatria. Brasil.
  468. Social Sciences & Humanities Psychology (miscellaneous)
    C H GONZALEZ; M I MELARAGNO; D BRUNONI; M CORBANI; Chong Ae KIM. 1992. Deleção 9p e duplicação 17p resultantes de uma translocação (9-17 (p22-p12) paterna. In: Congresso latino-americano de genética. Brasil.
  469. Life Sciences Genetics
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; J C NETO; M N SOTTO; D H SOUZA et al. 1992. Fibromatose hialina juvenil: uma doença rara de herança autossômica recessiva. In: Congresso latino-americano de genética. Brasil.
  470. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; M C RIVITTI; Z N P OLIVEIRA; C H GONZALEZ. 1992. Eritrodermia ictiosiforme congênita com nanismo: síndrome "nova" autossômica recessiva?. In: Congresso latino-americano de genética. Brasil.
  471. Health Sciences Medicine (miscellaneous)
    Maria J MALDONADO; C H GONZALEZ; Chong Ae KIM; F KOK; Maria Joaquina Marques DIAS et al. 1992. Leucinose; forma precoce: estudo de 2 casos. In: V congresso paulista de pediatria. Brasil.
  472. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; G PORTA; R S PUGLIESI; Jordão Correa NETO; Sofia Mizuko Miura SUGAYAMA et al. 1992. Cutis laxa associada a provável doença de depósito. In: Iv reunião anual da sociedade brasileira de genética clínica. Brasil.
  473. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; Maria Joaquina Marques DIAS; C R LEONE; S M M MIURA; Jordão Correa NETO et al. 1992. Duas crianças com sequência de moebius e uma com anomalias digitais nascidas de mães que utilizaram misoprostal (cytotec) no início da gestação. In: Iv reunião anual da sociedade brasileira de genética clínica. Brasil.
  474. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; C D SALIBA; D R CAMPANA; C H GONZALEZ. 1992. Agenesia de glândulas salivares - relato de caso. In: Iv reunião anual da sociedade brasileira de genética clínica. Brasil.
  475. Health Sciences Speech and Hearing
    Sofia Mizuko Miura SUGAYAMA; Jordão Correa NETO; Chong Ae KIM; E DINIZ; C H GONZALEZ. 1992. Síndrome do pteígeo múltiplo - relato de um caso. In: Iv reunião anual da sociedade brasileira de genética clínica. Brasil.
  476. Health Sciences Pediatrics, Perinatology and Child Health
    J A PAZ; F KOK; Jordão Correa NETO; C H GONZALEZ; Maria Joaquina Marques DIAS et al. 1992. Síndrome de moebius: estudo de 12 casos. In: Xv congresso brasileiro de neurologia. Brasil.
  477. Social Sciences & Humanities Psychology (miscellaneous)
    J A PAZ; L MACHADO; F KOK; Chong Ae KIM; Maria Joaquina Marques DIAS. 1992. Esclerose lateral amiotrófica juvenil - a propósito de um caso de progressão rápida. In: Xv congresso brasileiro de neurologia. Brasil.
  478. Health Sciences Medicine (miscellaneous)
    Maria Ester R J CECCON; S R T S RAMOS; E DINIZ; Chong Ae KIM; Flavio Ac VAZ et al. 1992. Epidermolise bolhosa congênita - análise de 4 casos com estudo evolutivo. In: Xiii congresso brasileiro de perinatologia. Brasil.
  479. Life Sciences Neurology
    Celia P KOIFFMANN; C H GONZALEZ; D H SOUZA; Vicente Odone FILHO; Chong Ae KIM et al. 1991. Neuroblastoma in a child with dup 12q23 qter due to maternal translocation with breakpoints on 11q23 and 12q23. In: 8th international congress of human genetics. Estados Unidos.
  480. Health Sciences Medicine (miscellaneous)
    C H GONZALEZ; Chong Ae KIM; J C NETO; G SALOMÃO; N R B OLIVEIRA. 1991. Proteus syndrome with plexiform neurofibromas. In: 8th international congress of human genetics. Estados Unidos.
  481. Life Sciences Genetics
    Anita WAJNTAL; C P KOIFFMAN; D H SOUZA; Chong Ae KIM; C H GONZALEZ. 1991. Deleção 7q22+q33 de origem materna em criança cujo avô é portador de dois rearranjos cromossômicos equilibrados. In: 37th annual meeting of the brazilian genetics society. Brasil.
  482. Life Sciences Genetics
    Jordão Correa NETO; Chong Ae KIM; D H SOUZA; N SETIAN; C H GONZALEZ. 1991. Trissomia 18: diagnóstico aos 16 meses. In: 37th annual meeting of the brazilian genetics society. Brasil.
  483. Health Sciences Psychiatry and Mental Health
    Chong Ae KIM; S OLIVEIRA; Jordão Correa NETO; M J Marques DIAS; C H GONZALEZ. 1991. Herança autossômica dominante na síndrome de moebius. In: 37th annual meeting of the brazilian genetics society. Brasil.
  484. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; C H GONZALEZ. 1991. Estudos genético-clínicos de 25 pacientes afetados por osteogênese imperfeita. In: 37th annual meeting of the brazilian genetics society. Brasil.
  485. Health Sciences Speech and Hearing
    Chong Ae KIM; S M M SUGAYAMA; M F BARBA; C H GONZALEZ. 1991. Nanismo acromesomelico: relato de irmãos afetados. In: 37th annual meeting of the brazilian genetics society. Brasil.
  486. Health Sciences General Medicine
    S M M SUGAYAMA; Chong Ae KIM; Marina IVAMOTO; Paulo S MARTINHO; P A OTTO et al. 1991. Anemia de fanconi: estudo clínico e citogenético em duas irmãs afetadas e sua família. In: 37th annual meeting of the brazilian genetics society. Brasil.
  487. Life Sciences Genetics
    A Scatigno NETO; Luis Carlos Nogueira BOGUS; Marcio Ramalho ANDRADE; C H GONJALES; Chong Ae KIM et al. 1991. Diagnóstico clínico-radiológico do nanismo acromeso-medico - apresentação de dois casos. In: V congresso latinoamericano de ultrasonografia em medicina e biologia e do seminário do colégio interamericano de radiologia. Brasil.
  488. Life Sciences Genetics
    Jordão Correa NETO; Chong Ae KIM; D H SOUZA; N SETIAN; C H GONZALEZ. 1991. Trissomia 18: diagnóstico aos 16 meses. In: 37º congresso nacional de genética. Brasil.
  489. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; M F BARBA; C H GONZALEZ. 1991. Namismo acromesomélico: relato de irmãos afetados. In: 37º congresso nacional de genética. Brasil.
  490. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; C H GONZALEZ. 1991. Estudos genético-clínicos de 25 pacientes afetados por osteogênese imperfeita. In: 37º congresso nacional de genética. Brasil.
  491. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; Jordão Correa NETO; F KOK; A DIAMENT; C H GONZALEZ. 1991. Síndrome de shprintzen: dificuldade diagnóstica na infância. In: 37º congresso nacional de genética. Brasil.
  492. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; S OLIVEIRA; Jordão Correa NETO; Maria Joaquina Marques DIAS; C H GONZALEZ. 1991. Herança autossômica dominante na síndrome de moebius. In: 37º congresso nacional de genética. Brasil.
  493. Life Sciences Neurology
    Chong Ae KIM; C H GONZALEZ. 1989. Síndrome de robinow com cardiopatia congênita. In: 41ª reunião anual da sociedade brasileira para o progresso da ciência. Brasil.
  494. Social Sciences & Humanities Education
    Chong Ae KIM; M E KOBINGER; C H GONZALEZ. 1989. Síndrome de dubowitz: relato de um caso com revisão de literatura. In: 41ª reunião anual da sociedade brasileira para o progresso da ciência. Brasil.
  495. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; M L De M BOURROL; M FLORES; C H GONZALEZ. 1989. Displasia espondilo-epifisaria congênita. relato de um caso. In: 41ª reunião anual da sociedade brasileira para o progresso da ciência. Brasil.
  496. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM. 1989. Displasia espondilo-epifisaria congênita. relato de um caso. In: Xxxv congresso nacional de genética. Brasil.
  497. Health Sciences Neurology (clinical)
    Chong Ae KIM. 1989. Síndrome de robinow com cardiopatia congênita. In: Xxxv congresso nacional de genética. Brasil.
  498. Social Sciences & Humanities Education
    Chong Ae KIM. 1989. Síndrome de dubowitz: relato de um caso com revisão de literatura. In: Xxxv congresso nacional de genética. Brasil.
  499. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; M E KOBINGER; C H GONZALEZ. 1989. Síndrome de dubowitz: relato de um caso com revisão de literatura. In: Xxvi congresso brasileiro de pediatria. Brasil.
  500. Health Sciences Neurology (clinical)
    Chong Ae KIM; C H GONZALEZ. 1989. Síndrome de robinow com cardiopatia congênita. In: Xxvi congresso brasileiro de pediatria. Brasil.
  501. Health Sciences Medicine (miscellaneous)
    T Della MANNA; C H GONZALEZ; Chong Ae KIM; D DAMIANI; Vaê DICHTCHELENIAN et al. 1989. Estudo clínico e genético de uma família portadora de diabetes insipidus. In: Xxvi congresso brasileiro de pediatria. Brasil.
  502. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM. 1988. Diabetes insípido verdadeiro: estudo de uma família com herança autossômica dominante. In: Xxxiv congresso nacional de genética. Brasil.
  503. Health Sciences Neurology (clinical)
    Chong Ae KIM; Mônica M De Macedo ZULLO; Joselina M CARDIERI; T ROZOV; C H GONZALEZ. 1987. Síndrome cérebro-costo-mandibular: relato de caso. In: Xxxiii congresso nacional de genética. Brasil.
  504. Health Sciences Neurology (clinical)
    Chong Ae KIM; Mônica M De Macedo ZULLO; Joselina M CARDIERI; T ROZOV; C H GONZALEZ. 1987. Síndrome cérebro-costo-mandibular: relato de um caso. In: 39ª reunião anual da sociedade brasileira para o progresso da ciência. Brasil.
  505. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM; D DAMIANI; Vaê DICHTCHELENIAN; N SETIAN; C H GONZALEZ. 1987. Diabetes insipido verdadeiro: estudo de uma família com herança autossômica dominante. In: Xxv congresso brasileiro de pediatria; iii congresso paulista de pediatria e ii congresso da sociedade de pediatria de língua portuguesa. Brasil.
  506. Health Sciences Neurology (clinical)
    Celia P KOIFFMANN; Anita WAJNTAL; D H SOUZA; Chong Ae KIM; Ana Maria U ESCOBAR et al. 1986. Dup (13) (q31 q34) em criança com rdnpm e malformações múltiplas. In: 38ª reunião anual da sociedade brasileira par o progresso da ciência. Brasil.
  507. Life Sciences Genetics
    Chong Ae KIM. 1986. Estudo de 2 casos de incontinentia pigmenti. In: 1º congresso do instituto da criança. Brasil.
  508. Health Sciences Medicine (miscellaneous)
    C H GONZALEZ; N SETIAN; D DAMIANI; Chong Ae KIM; Vaê DICHTCHELENIAN et al. 1986. Cariótipo 49; xxxxy em uma criança com malformação múltiplas. In: 38ª reunião anual da sociedade brasileira para o progresso da ciência. Brasil.
  509. Health Sciences Medicine (miscellaneous)
    C H GONZALEZ; N SETIAN; D DAMIANI; Chong Ae KIM; Vaê DICHTCHELENIAN et al. 1986. Cariótipo 49; xxxxy em uma criança com malformações míltiplas. In: Xxxii congresso nacional de genética. Brasil.
  510. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Sun Rei CHEN; A M B BRESOLIN; C H GONZALEZ. 1985. Síndrome de apert: relato de dois casos. In: Ii congresso paulista de pediatria. Brasil.
  511. Health Sciences General Medicine
    L S P SADECK; J MONASI; Chong Ae KIM; C R LEONE. 1984. Síndrome de regressão caudal (src) em filho de mãe pancreatectomizada. In: Ix congresso brasileiro de perinatologia. Brasil.
  512. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; G Z LIMA. 1984. Síndrome de pterígio poplíteo. In: 36ª reunião anual da sbpc e xxx congresso brasileiro de genética. Brasil.
  513. Life Sciences Genetics
    M M CAMARGO; Chong Ae KIM; A M BRESOLIN; M Carneiro SAMPAIO. 1983. Síndrome de eec ( ectdactyly-ectodermal dysplasia clefting syndrome): aspectos genéticos-clínicos e imunológicos de um caso. In: I congreso paulista de pediatria. Brasil.
  514. Health Sciences Medicine (miscellaneous)
    M M CAMARGO; Chong Ae KIM; A M B BRESOLIN; M Carneiro SAMPAIO. 1983. Síndrome de eec: associado a candidíase oral crônica. In: Ii jornada científica do instituto da criança. Brasil.
  515. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; A M B BRESOLIN; C H GONZALEZ. 1983. Síndrome de goltz: apresentação de um caso. In: I congresso paulista de pediatria. Brasil.
  516. Health Sciences Neurology (clinical)
    Chong Ae KIM. 1980. Incidência de meningite em crianças no hospital df (1973-1979). In: Xvi congresso da sociedade brasileira de medicina tropical. Brasil.
  517. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM. 1980. Valor do exame coprológico funcional na diarréia aguda na infância. In: Ii congresso brasileiro de infectologia pediátrica. Brasil.
  518. Health Sciences Genetics (clinical)
    Chong Ae KIM. 1980. Hepatite fulminante por difenilhidantoína. In: I jornada de pediatria de brasília. Brasil.
  519. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM. 1980. Miosite ossificante. In: I jornada de pediatria de brasília. Brasil.
  520. Social Sciences & Humanities Language and Linguistics
    Chong Ae KIM. 1980. Escleredema de buschke - relato de um caso. In: I jornada de pediatria de brasília. Brasil.
  521. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM. 1980. Pseudo puberdade sexual resultante de tumores dos testículos. In: I jornada de pediatria de brasília. Brasil.
  1. Life Sciences Neurology
    Martins LUCIANE; Lessa Luis Gustavo F; Ali Taccyanna M; Lazar MONIZE; Chong Ae KIM et al. 2023. Childhood hypophosphatasia associated with a novel biallelic alpl variant at the tnsalp dimer interface. International journal of molecular sciences. 24, 282-.
  2. Life Sciences Neurology
    Imagawa ERI; Seyama RIE; Aoi HIROMI; Uchiyama YURI; Marcarini Bruno GUIMARAES et al. 2023. Imagawa-matsumoto syndrome: -related overgrowth disorder. Clinical genetics. epub, epub-epub.
  3. Life Sciences Genetics
    Zamariolli M; A G DANTAS; Natalis NUNES; Moysés Oliveira M; Sgardioli I C et al. 2023. Phenotypic heterogeneity in 22q11.2 deletion syndrome: as genetic modifiers for congenital heart disease in a brazilian cohort. American journal of medical genetics part a. epub, epub-epub.
  4. Life Sciences Genetics
    Di Lazzaro Filho RICARDO; Yamamoto Guilherme LOPES; Silva Tiago J; Rocha Leticia A; Linnenkamp Bianca D W et al. 2023. Biallelic variants in cause poikiloderma with congenital cataracts and severe growth failure reminiscent of rothmund-thomson syndrome. Journal of medical genetics. epub, jmg-2022-109119-epub.
  5. Health Sciences Neurology (clinical)
    Ranzani Martins REBECCA; Da Silva Paiva Mauricio LEONARDO; Da Silva Teixeira Weverton CARLOS; Kawahira Rachel Sayuri HONJO; Freua FERNANDO et al. 2023. Stroke in vascular ehlers-danlos syndrome. Practical neurology (print). epub, pn-2023-003753-.
  6. Life Sciences Neuroscience (miscellaneous)
    Ohori SACHIKO; Miyauchi AKIHIKO; Osaka HITOSHI; Lourenco Charles MARQUES; Arakaki NAOHIRO et al. 2023. Biallelic structural variations within detected by long-read sequencing in epilepsy. Life science alliance. 6, e202302025-.
  7. Life Sciences Genetics
    Lima Ariadne R; Ferreira Barbara M; Zhang CHAOFAN; Jolly ANGAD; Du HAOWEI et al. 2022. Phenotypic and mutational spectrum of ror2</i> -related robinow syndrome. Human mutation. epub, epub-.
  8. Social Sciences & Humanities Language and Linguistics
    Silva Liliane Aparecida FAGUNDES; Kawahira Rachel Sayuri HONJO; Chong Ae KIM; Matas Carla GENTILE. 2022. O perfil audiológico e a funcionalidade coclear na síndrome de williams. Codas. 34, epub-.
  9. Health Sciences Pediatrics, Perinatology and Child Health
    Honjo Rachel SAYURI; Monteleone Vanessa FIGUEIREDO; Aiello Vera DEMARCHI; Wagenfuhr JAQUELINE; Issa Victor SARLI et al. 2022. <scp>cardiovascular findings in williams-beuren syndrome</scp> : experience of a single center with 127 cases. American journal of medical genetics part a. 188, 676-682.
  10. Life Sciences Neurology
    Virginia FANO; Chong Ae KIM; Pablo ROSSELLE; Regina El DEB; Renée SHEDIAC et al. 2022. Impact of achondroplasia on latin american patients: a systematic review and meta-analysis of observational studies. Orphanet journal of rare diseases. 17, 4-.
  11. Life Sciences Genetics
    Bianca LINNENKAMP; R GIRARDI; L ROCHA; G YAMAMOTO; J R CERONI et al. 2022. Vertebral segmentation defects in a brazilian cohort: clinical and molecular analysis focused on spondylocostal dysostosis. Clinical genetics. 101, 476-478.
  12. Life Sciences Genetics
    Taccianna M ALI; B LINNENKAMP; Guilherme L YAMAMOTO; Rachel Sayuri HONJO; Hamilton Cabral De Menezes FILHO et al. 2022. The recurrent homozygous translation start site variant in ccdc134 in an individual with severe osteogenesis imperfecta of non-morrocan ancestry. American journal of medical genetics part a. epub, epub-.
  13. Life Sciences Genetics
    Quaio Caio Robledo D Angioli COSTA; Moreira Caroline MONACO; Chung Christine HSIAOYUN; Perazzio Sandro FELIX; Dutra Aurelio PIMENTA et al. 2022. Frequency of carriers for rare metabolic diseases in a brazilian cohort of 320 patients. Molecular biology reports. epub, epub-.
  14. Health Sciences Medicine (miscellaneous)
    Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Bernardi Filipe ANDRADE et al. 2022. Epidemiology of rare diseases in brazil: protocol of the brazilian rare diseases network (raras-brdn). Orphanet journal of rare diseases. 17, epub-.
  15. Health Sciences Medicine (miscellaneous)
    Montenegro Yorran Hardman ARAÚJO; Souza Carolina Fischinger MOURA; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Burin Maira GRAEFF et al. 2022. Sanfilippo syndrome type b: analysis of patients diagnosed by the <scp>mps</scp> brazil network. American journal of medical genetics part a. 188, 760-767.
  16. Life Sciences Genetics
    Itai TOSHIYUKI; Miyatake SATOKO; Tsuchida NAOMI; Saida KEN; Narahara SHO et al. 2022. Novel cltc variants cause new brain and kidney phenotypes. Journal of human genetics. 67, 1-7.
  17. Life Sciences Genetics
    Quaio Caio Robledo D Angioli COSTA; Ceroni Jose Ricardo MAGLIOCCO; Cervato Murilo CASTRO; Thurow Helena STRELOW; Moreira Caroline MONACO et al. 2022. Parental segregation study reveals rare benign and likely benign variants in a brazilian cohort of rare diseases. Scientific reports. 12, epub-.
  18. Health Sciences Genetics (clinical)
    Stephan Bruno De OLIVEIRA; Quaio Caio ROBLEDO; Spolador Gustavo MARQUEZANI; De Paula Ana CAROLINA; Curiati Marco ANTÔNIO et al. 2022. Impact of ert and follow-up of 17 patients from the same family with a mild form of mps ii. Clinics. 77, 100082-.
  19. Life Sciences Genetics
    Seyama RIE; Uchiyama YURI; Ceroni José Ricard MAGLIOCCO; Kim Veronica Eun HUE; Furquim ISABEL et al. 2022. Pathogenic variants detected by rna sequencing in cornelia de lange syndrome. Genomics. 114, 110468-.
  20. Life Sciences Genetics
    Chehimi Samar NASSER; Almeida Vanessa TAVARES; Nascimento Amom MENDES; Zanardo Évelin ALINE; De Oliveira Yanca GASPARINI et al. 2022. Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome. Clinics. 77, 100045-.
  21. Health Sciences Pediatrics
    Llerena JUAN; Chong Ae KIM; Fano VIRGINIA; Rosselli PABLO; Collett Solberg Paulo FERREZ et al. 2022. Achondroplasia in latin america: practical recommendations for the multidisciplinary care of pediatric patients. Bmc pediatrics. 22, epub-.
  22. Life Sciences Genetics
    Montenegro Marília MOREIRA; Camilotti DÉBORA; D Anglioli Costa Quaio Caio ROBLEDO; Gasparini YANCA; Aline Zanardo ÉVELIN et al. 2022. Expanding the phenotype of 8p23.1 deletion syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion. Journal of pediatrics. epub, epub-.
  23. Life Sciences Genetics
    Saida KEN; Maroofian REZA; Sengoku TORU; Mitani TADAHIRO; Pagnamenta Alistair T et al. 2022. Brain monoamine vesicular transport disease caused by homozygous slc18a2 variants: a study in 42 affected individuals. Genetics in medicine. epub, epub-epub.
  24. Life Sciences Neurology
    Sakamoto MASAMUNE; Iwama KAZUHIRO; Sasaki MASAYUKI; Ishiyama AKIHIKO; Komaki HIROFUMI et al. 2022. Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. Genetics in medicine. epub, epub-epub.
  25. Life Sciences Genetics
    Afif Ben MAHMOUD; Kyung Ran JUN; Vijay GUPTA; Pinang SHASTRI; Alberto De La FUENTE et al. 2022. A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders. Frontiers in molecular neuroscience. epub, epub-epub.
  26. Life Sciences Genetics
    Caio R D C QUAIO; C M MOREIRA; C H CHUNG; S F PERAZZIO; A P DUTRA et al. 2022. Exome sequencingof 500 brazilian patients with rare diseases: what we have learned. Sao paulo medical journal. 140, 734-736.
  27. Health Sciences Pediatrics, Perinatology and Child Health
    Marcilia S GRASSI; Marilia MONTENEGRO; Evelin Aline ZANARDO; Antonio Carlos PASTORINO; Mayra Barros DORNA et al. 2022. Cytogenomics investigation of infants with congenital heart disease: experience of a brazilian center. Arquivos brasileiros de cardiologia. 118, 61-67.
  28. Life Sciences Genetics
    Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Freire Bruna LUCHEZE; Homma Thais KATAOKA et al. 2022. Burden of rare copy number variants in microcephaly: a brazilian cohort of 185 microcephalic patients and review of the literature. Journal of autism and developmental disorders. epub, epub-.
  29. Life Sciences Genetics
    Almeida Vanessa T; Chehimi Samar N; Gasparini YANCA; Nascimento Amom M; Carvalho Gleyson F S et al. 2022. Cri-du-chat syndrome: revealing a familial atypical deletion in 5p. Molecular syndromology. epub, 1-10.
  30. Life Sciences Genetics
    H J MAY; J JEONG; A Revah POLITI; J S COHEN; A CHASSEVENT et al. 2021. Truncating variants in the shank1 gene are associated with a spectrum of neurodevelopmental disorders. Genetics in medicine. epub, epub-.
  31. Life Sciences Genetics
    Quaio Caio Robledo D Angioli COSTA; Chung Christine HSIAOYUN; Perazzio Sandro FELIX; Dutra Aurelio PIMENTA; Moreira Caroline MONACO et al. 2021. Frequency of carriers for rare recessive mendelian diseases in a brazilian cohort of 320 patients. American journal of medical genetics part c-seminars in medical genetics. epub, ajmg.c.31932-.
  32. Life Sciences Genetics
    Miyake NORIKO; Chong Ae KIM; Haginoya KAZUHIRO; Castro Matheus Augusto ARAUJO; Honjo Rachel SAYRURI et al. 2021. De novo pathogenic <scp> dhx30</i> </scp> variants in two cases. Clinical genetics. epub, epub-.
  33. Health Sciences Cardiology and Cardiovascular Medicine
    Lvl PIRES; Ra BORDIN; Mbr MACIEL; Acs TANAKA; Gl YAMAMOTO et al. 2021. Atypical; severe hypertrophic cardiomyopathy in a newborn presenting noonan syndrome harboring a recurrent heterozygous mras variant. American journal of medical genetics part a. epub, epub-.
  34. Life Sciences Genetics
    Rocha Letícia ALVES; Pires Lucas Vieira LACERDA; Yamamoto Guilherme LOPES; Ceroni José RICARDO; Honjo Rachel SAYURI et al. 2021. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical genetics. epub, cge.14041-.
  35. Health Sciences Genetics (clinical)
    Caio Robledo Dángioli Costa QUAIO; Maria Jose Rivadeneira OBANDO; Sandro Felix PERAZZIO; Aurelio Pimenta DUTRA; Christine Hsiaoyun CHUNG et al. 2021. Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases. Genetics and molecular biology. epub, epub-.
  36. Social Sciences & Humanities Neuropsychology and Physiological Psychology
    Castro Matheus Augusto ARAÚJO; Santos Juliana Heather VEDOVATO; Honjo Rachel SAYURI; Yamamoto Guilherme LOPES; Bertola Débora ROMEO et al. 2021. Twenty-year follow-up of the facial phenotype of brazilian patients with sotos syndrome. American journal of medical genetics part a. epub, epub-.
  37. Life Sciences Neurology
    Pires Lucas Vieira LACERDA; Ribeiro Rogério LEMOS; Sousa Adriana Modesto DE; Linnenkamp Bianca Domit WERNER; Pontes Sue ELLEN et al. 2021. Nationwide questionnaire data of 229 williams-beuren syndrome patients using whatsapp tool. Arquivos de neuro-psiquiatria (online). 79, 950-956.
  38. Health Sciences Medicine (miscellaneous)
    Canton Ana Pinheiro MACHADO; Krepischi Ana Cristina VICTORINO; Montenegro Luciana RIBEIRO; Costa SILVIA; Rosenberg CARLA et al. 2021. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human reproduction. 36, 506-518.
  39. Physical Sciences Artificial Intelligence
    Miyake NORIKO; Oliveira Stephan BRUNO; Chong Ae KIM; Matsumoto NAOMICHI. 2021. A brazilian case arising from a homozygous canonical splice site variant leading in-frame deletion. Clinical genetics. epub, cge.13909-.
  40. Health Sciences Medicine (miscellaneous)
    Fagundes Silva Liliane APARECIDA; Honjo Kawahira Rachel SAYURI; Chong Ae KIM; Matas Carla GENTILE. 2021. Abnormal auditory event-related potentials in williams syndrome. European journal of medical genetics. 64, 104163-.
  41. Life Sciences Neurology
    Honjo Rachel SAYURI; Castro Matheus Augusto ARAÚJO; Ferraciolli Suely FAZIO; Soares Junior Luiz Alberto VALENTE; Pastorino Antonio CARLOS et al. 2021. Cerebellofaciodental syndrome in an adult patient: expanding the phenotypic and natural history characteristics. American journal of medical genetics part a. epub, ajmg.a.62140-.
  42. Health Sciences Genetics (clinical)
    Horovitz Dafne D G; Leão Emília K E A; Ribeiro Erlane M; Martins Ana M; Barth Anneliese L et al. 2021. Long-term impact of early initiation of enzyme replacement therapy in 34 mps vi patients: a resurvey study. Molecular genetics and metabolism. epub, epub-.
  43. Health Sciences Genetics (clinical)
    Stockler Ipsiroglu SYLVIA; Yazdanpanah NAHID; Yazdanpanah MOJGAN; Moisa Popurs MARIOARA; Yuskiv NATALIYA et al. 2021. Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <scp> glb1</i> </scp> -related phenotype. Jimd reports. epub, epub-.
  44. Life Sciences Genetics
    Giugliani ROBERTO; Barth Anneliese LOPES; Dumas Melissa Rossi CALVÃO; Da Silva Franco José FRANCISCO; De Rosso Giuliani LIANE et al. 2021. Mucopolysaccharidosis vii in brazil: natural history and clinical findings. Orphanet journal of rare diseases. 16, epub-.
  45. Social Sciences & Humanities Linguistics and Language
    Silva Liliane Aparecida FAGUNDES; Kawahira Rachel Sayuri HONJO; Chong Ae KIM; Matas Carla GENTILE. 2021. Auditory hypersensitivity in williams syndrome. International journal of pediatric otorhinolaryngology. 146, 110740-.
  46. Health Sciences Genetics (clinical)
    Josahkian Juliana ALVES; Brusius Facchin Ana CAROLINA; Netto Alice Brinckmann OLIVEIRA; Leistner Segal SANDRA; Málaga Diana ROJAS et al. 2021. Genotype-phenotype studies in a large cohort of brazilian patients with hunter syndrome. American journal of medical genetics part c-seminars in medical genetics. epub, epub-.
  47. Health Sciences Medicine (miscellaneous)
    Kozel Beth A; Barak BOAZ; Chong Ae KIM; Mervis Carolyn B; Osborne Lucy R et al. 2021. Williams syndrome. Nature reviews disease primers. 7, 42-.
  48. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Costa Riquetto Aline D; Santana Lucas S; Caetano Lílian A; Lerário Antônio M; Correia Deur Joya E M et al. 2020. Targeted massively parallel sequencing for congenital generalized lipodystrophy. Archives of endocrinology metabolism. 64, 559-566.
  49. Life Sciences Genetics
    Montenegro Marilia M; Quaio Caio R; Palmeira PATRICIA; Gasparini YANCA; Rangel Santos ANDREIA et al. 2020. Gene expression profile suggesting immunological dysregulation in two brazilian bloom's syndrome cases. Molecular genetics & genomic medicine. epub, epub-epub.
  50. Health Sciences Neurology (clinical)
    Honjo Rachel SAYURI; Vaca Evelyn Cristina NUÑEZ; Leal Gabriela NUNES; Abellan Deipara MONTEIRO; Ikari Nana MIURA et al. 2020. Mucopolysaccharidosis type vi: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation. Bmc medical genetics. 21, 37-.
  51. Life Sciences Neurology
    Wagner MATIAS; Lévy JONATHAN; Jung Klawitter SABINE; Bakhtiari SOMAYEH; Monteiro FABIOLA et al. 2020. Loss of tnr causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genetics in medicine. epub, epub-epub.
  52. Health Sciences Medicine (miscellaneous)
    Chehimi Samar N; Zanardo Évelin A; Ceroni José R M; Nascimento Amom M; Madia Fabrícia A R et al. 2020. Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry. Molecular genetics & genomic medicine. 8, e957-.
  53. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Novo Filho Gil M; Carvalho Gleyson F S; Nascimento Amom M; Montenegro Marilia M; Damasceno Jullian G et al. 2020. Identifying nahr mechanism between two distinct alu elements through breakpoint junction mapping by ngs. Meta gene. 24, 100702-.
  54. Life Sciences Genetics
    Soares Diogo C; Dantas Anelisa G; Matta Marina C; Pastorino Antonio C; Melaragno Maria ISABEL et al. 2020. Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: an unusual presentation of 22q11.2 deletion syndrome. Clinical immunology. 220, 108590-.
  55. Social Sciences & Humanities Psychology (miscellaneous)
    Bertola Débora R; Castro Matheus A A; Yamamoto Guilherme L; Honjo Rachel S; Ceroni José RICARDO et al. 2020. Phenotype-genotype analysis of 242 individuals with : 18-year experience of a tertiary center in brazil. American journal of medical genetics part c-seminars in medical genetics. epub, ajmg.c.31851-epub.
  56. Physical Sciences Artificial Intelligence
    Uchiyama YURI; Yamaguchi DAISUKE; Iwama KAZUHIRO; Miyatake SATOKO; Hamanaka KOHEI et al. 2020. Efficient detection of copy-number variations using exome data: batch- and sex-based analyses. Human mutation. epub, humu.24129-.
  57. Health Sciences Genetics (clinical)
    Quaio Caio Robledo D Angioli COSTA; Moreira Caroline MONACO; Novo Filho Gil MONTEIRO; Sacramento Bobotis Patricia ROSSI; Groenner Penna MICHELE et al. 2020. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. American journal of medical genetics part c-seminars in medical genetics. epub, ajmg.c.31860-.
  58. Life Sciences Neuroscience (miscellaneous)
    Pires Sara FERREIRA; Tolezano Giovanna CANTINI; Da Costa Silvia SOUZA; Kawahira Rachel Sayuri HONJO; Chong Ae KIM et al. 2020. Expanding the role of setd5</i> haploinsufficiency in neurodevelopment and neuroblastoma. Pediatric blood & cancer. 67, epub-.
  59. Life Sciences Genetics
    Dantas Anelisa GOLLO; Santoro Marcos LEITE; Nunes NATALIA; De Mello Claudia BERLIM; Pimenta Larissa Salustiano EVANGELISTA et al. 2019. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome. Human genetics. epub, epub-.
  60. Health Sciences Genetics (clinical)
    Ceroni José Ricardo MAGLIOCCO; Spolador Gustavo MARQUEZANI; Bermeo Diana SALAZAR; Honjo Rachel SAYURI; De Oliveira Luiz Antonio NUNES et al. 2019. Clinical and radiological findings in brazilian patients with mucolipidosis types ii/iii. Skeletal radiology. epub, epub-.
  61. Life Sciences Genetics
    Gasparini YANCA; Montenegro Marília M; Novo Filho Gil M; Ceroni José R M; Honjo Rachel S et al. 2019. Mosaic trisomy 12 associated with overgrowth detected in fibroblast cell lines. Cytogenetic and genome research. epub, epub-.
  62. Health Sciences Neurology (clinical)
    Guo LONG; Bertola Débora ROMEO; Takanohashi ASAKO; Saito ASUKA; Segawa YUKO et al. 2019. Bi-allelic csf1r mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation. American journal of human genetics. epub, epub-.
  63. Health Sciences Medicine (miscellaneous)
    Saida KEN; Chong Ae KIM; Ceroni José Ricardo MAGLIOCCO; Debora Romeo BERTOLA; Honjo Rachel SAYURI et al. 2019. Hemorrhagic stroke and renovascular hypertension with grange syndrome arising from a novel pathogenic variant in yy1ap1. Journal of human genetics. epub, epub-.
  64. Life Sciences Molecular Biology
    Uchiyama YURI; Chong Ae KIM; Pastorino Antonio CARLOS; Ceroni JOSÉ; Lima Patricia PICCIARELLI et al. 2019. Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous ripk1 variant. Journal of human genetics. epub, epub-epub.
  65. Health Sciences Medicine (miscellaneous)
    Malaquias Alexsandra C; Noronha Renata M; Souza Thaiana T O; Homma Thais K; Funari Mariana F A et al. 2019. Impact of growth hormone therapy on adult height in patients with ptpn11</i></b> mutations related to noonan syndrome. Hormone research in paediatrics. epub, 1-10.
  66. Life Sciences Genetics
    Aoi HIROMI; Mizuguchi TAKESHI; Ceroni José RICARD; Kim Veronica Eun HUE; Furquim ISABEL et al. 2019. Comprehensive genetic analysis of 57 families with clinically suspected cornelia de lange syndrome. Journal of human genetics. epub, epub-.
  67. Health Sciences Genetics (clinical)
    Giugliani LUCIANA; Steiner Carlos EDUARDO; Chong Ae KIM; Lourenço Charles MARQUES; Santos Mara Lucia Schmitz FERREIRA et al. 2019. Clinical findings in brazilian patients with adult gm1 gangliosidosis. Jimd reports. epub, epub-.
  68. Life Sciences Neurology
    Moosa SHAHIDA; Yamamoto Guilherme L; Garbes LUTZ; Keupp KATHARINA; Beleza Meireles ANA et al. 2019. Autosomal recessive mutations in mesd cause osteogenesis imperfecta. American journal of human genetics. epub, epub-.
  69. Health Sciences Medicine (miscellaneous)
    Homma Thais K; Freire Bruna L; Honjo RACHEL; Dauber ANDREW; Funari Mariana F A et al. 2019. Growth and clinical characteristics of children with floating-harbor syndrome: analysis of current original data and a review of the literature. Hormone research in paediatrics. 12, 1-9.
  70. Health Sciences Medicine (miscellaneous)
    Alegra TACIANE; Sperb Ludwig FERNANDA; Guarany Nicole RUAS; Ribeiro Erlane M; Lourenço Charles M et al. 2019. Clinical characterization of mucolipidoses ii and iii: a multicenter study. Journal of pediatric genetics. 8, 198-204.
  71. Life Sciences Genetics
    T K HOMMA; B L FREIRE; R S Honjo KAWASHIRA; A DAUBER; M F A FUNARI et al. 2019. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing. Journal of pediatrics. epub, epub-epub.
  72. Social Sciences & Humanities Psychology (miscellaneous)
    Pimenta Larissa Salustiano EVANGELISTA; Mello Cláudia Berlim DE; Soares Diogo Cordeiro De QUEIROZ; Dantas Anelisa GOLLO; Melaragno Maria ISABEL et al. 2019. Intellectual performance profi le of a sample of children and adolescents from brazil with 22q11.2 deletion syndrome (22q11.2ds) based on the wechsler scale. Estudos de psicologia. 36, epub-.
  73. Health Sciences Genetics (clinical)
    D Angelo Carla SUSTEK; Varela Monica CASTRO; De Castro Claudia Irene EMÍLIO; Otto Paulo ALBERTO; Perez Ana Beatriz ALVAREZ et al. 2018. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular cytogenetics. 11, epub-.
  74. Health Sciences Medicine (miscellaneous)
    Rachel Sayuri HONJO; Claudia Berlim De MELLO; Larissa S R PIMENTA; Evelyn Cristina Nunez VACA; Luciana Mello De BENEDETTO et al. 2018. Characteristics of 73 brazilian patients with cri du chat syndrome. Journal of intellectual disability research. epub, epub-epub.
  75. Life Sciences Genetics
    Jose Ricardo M CERONI; Guilherme L YAMAMOTO; Chong Ae KIM; Maria Rita Passos BUENO; D R BERTOLA. 2018. Large deletion in pigl:a common mutational mechanism in chime syndrome?. Genetics and molecular biology. epub, epub-.
  76. Life Sciences Neurology
    Bertola D R; Gabriella HSIA; Lucas ALVIZI; Gardham A; Wakeling E et al. 2018. Richieri-costa-pereira syndrome: expanding its phenotypic and genotypic spectrum. Clinical genetics. 93, 800-811.
  77. Health Sciences Medicine (miscellaneous)
    Salvucci Isadora Darriba MACEDO; Finzi SIMONE; Oyamada Maria KIYOKO; Chong Ae KIM; Pimentel Sérgio Luis GIANOTTI. 2018. Multimodal image analysis of the retina in hunter syndrome (mucopolysaccharidosis type ii): case report. Ophthalmic genetics. 39, 103-107.
  78. Life Sciences Genetics
    Homma Thais K; Krepischi Ana C V; Furuya Tatiane K; Honjo Rachel S; Malaquias Alexsandra C et al. 2018. Recurrent copy number variants associated with syndromic short stature of unknown cause. Hormone research in paediatrics. 89, 13-21.
  79. Social Sciences & Humanities Psychology (miscellaneous)
    Braga Ana CLAÚDIA; Carreiro Luiz Renato RODRIGUES; Tafla Tally LICHTENSZTEJN; Ranalli Nadia Maria GIARETTA; Silva Maria Fernanda Costa E et al. 2018. Cognitive and behavioral profile of williams syndrome toddlers. Codas. 30, epub-epub.
  80. Life Sciences Neurology
    Ceroni JR; Soares DC; Testai LC; Kawahira RS; Yamamoto GL et al. 2018. Natural history of 39 patients with achondroplasia. Clinics. 73, epub-.
  81. Social Sciences & Humanities Psychology (miscellaneous)
    J R M CERONI; Roberta Lelis DUTRA; Rachel Sayuri HONJO; Juan C LLERENA; Angelina X ACOSTA et al. 2018. A multicentric brazilian investigative study of copy number variations in patients with congenital anomalies and intellectual disability. Scientific reports. 8, epub-epub.
  82. Social Sciences & Humanities Psychology (miscellaneous)
    Silva Liliane Aparecida FAGUNDES; Chong Ae KIM; Matas Carla GENTILE. 2018. Características da avaliação auditiva na síndrome de williams: revisão sistemática. Codas. 30, epub-epub.
  83. Health Sciences Medicine (miscellaneous)
    Furusawa Erika ARAI; Esposito Camila Sanches LANETZKI; Honjo Rachel SAYURI; Suzuki LISA; Leal Gabriela NUNES et al. 2018. Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with williams-beuren syndrome. Revista da associação médica brasileira. 64, 723-728.
  84. Life Sciences Genetics
    Poloni SORAIA; Sperb Ludwig FERNANDA; Borsatto TACIANE; Weber Hoss GIOVANA; Doriqui Maria Juliana R et al. 2018. Cbs</i> mutations are good predictors for b6-responsiveness: a study based on the analysis of 35 brazilian classical homocystinuria patients. Molecular genetics & genomic medicine. epub, epub-.
  85. Life Sciences Genetics
    Costantini ALICE; Valta HELENA; Baratang Nissan VIDA; Yap PATRICK; Bertola Débora R et al. 2018. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with -corner fractures-. Bone. 121, 163-171.
  86. Life Sciences Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
    Bastos Karina Lucio De MEDEIROS; Quaio Caio ROBLEDO; Lima Fabiana ROBERTO; Araújo Iana MANUELLE; Araújo Candice Alves TAVARES et al. 2018. Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. Clinical and molecular hepatology. 25, 86-91.
  87. Health Sciences Genetics (clinical)
    Bertola DÉBORA; Yamamoto GUILHERME; Buscarilli MICHELLE; Jorge ALEXANDER; Passos Bueno Maria RITA et al. 2017. The recurrent ppp1cb</i> mutation p.pro49arg in an additional noonan-like syndrome individual: broadening the clinical phenotype. American journal of medical genetics. part a. 173, 824-828.
  88. Life Sciences Neurology
    Wade Emma M; Jenkins Zandra A; Daniel Philip B; Morgan TIM; Addor Marie C et al. 2017. Autosomal dominant frontometaphyseal dysplasia: delineation of the clinical phenotype. American journal of medical genetics part a. epub, epub-.
  89. Health Sciences Genetics (clinical)
    Franco José Francisco Da SILVA; El Dib REGINA; Agarwal ARNAV; Soares DIOGO; Milhan Noala Vicensoto MOREIRA et al. 2017. Mucopolysaccharidosis type i; ii and vi and response to enzyme replacement therapy: results from a single-center case series study. Intractable & rare diseases research. 6, 183-190.
  90. Health Sciences Genetics (clinical)
    Ludwig Nataniel FLORIANO; Velho Renata VOLTOLINI; Sperb Ludwig FERNANDA; Acosta Angelina XAVIER; Ribeiro Erlane MARQUES et al. 2017. Gnptab missense mutations cause loss of glcnac-1-phosphotransferase activity in mucolipidosis type ii through distinct mechanisms. International journal of biochemistry & cell biology. 92, 90-94.
  91. Health Sciences Neurology (clinical)
    Zanardo EA; Dutra RL; Piazzon FB; Dias AT; Novo Filho GM et al. 2017. Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: the brazilian experience. Clinics. 72, 526-537.
  92. Life Sciences Genetics
    Sobreira NARA; Brucato MARTHA; Zhang LI; Ladd Acosta CHRISTINE; Ongaco CHRISSIE et al. 2017. Patients with a kabuki syndrome phenotype demonstrate dna methylation abnormalities. European journal of human genetics. 25, 1335-1344.
  93. Health Sciences Neurology (clinical)
    Soares Diogo C; Stroparo Mariana N; Lian Yu C; Takakura Cristina Y; Wolf SABRINA et al. 2017. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for richner-hanhart syndrome. Journal of inherited metabolic disease. 40, 461-462.
  94. Social Sciences & Humanities Psychology (miscellaneous)
    Aac OSORIO; Jht Do EGITO; Gc MARTINS; Chong Ae KIM; Rachel S HONJO et al. 2017. Associations between fetal testosterone adn pro-social tendencies; anxiety and autistic symptoms in williams syndrome:a preliminary study. International journal of developmental disabilities. 17, 1-7.
  95. Life Sciences Neurology
    José Roberto Mendes PEGLER; Diogo Cordeiro De Queiroz SOARES; Caio Robledo Costa QUAIO; Natalia FERNANDES; Luiz Antonio Nunes De OLIVEIRA et al. 2016. Clinical description of 41 brazilian patientswith oculo-auriculo-vertebral dysplasia. Revista da associação médica brasileira. 62, 202-6.
  96. Life Sciences Genetics
    José Francisco S FRANCO; Diogo C Q SOARES; Leuridan C TORRES; Gabriela N LEAL; M T CUNHA et al. 2016. Short communication impact of early enzyme-replacement therapy for mucopolysaccharidosis vi: results of a long-term follow-up of brazilian siblings. Genetics and molecular research. 15, 1-7.
  97. Life Sciences Genetics
    Colovati Mileny E S; Bragagnolo SILVIA; Guilherme Roberta S; Dantas Anelisa G; Soares Maria F et al. 2016. Atypical 581-kb 22q11.21 deletion in a patient with oculo-auriculo-vertebral spectrum phenotype. Cytogenetic and genome research. epub, epub-.
  98. Health Sciences Genetics (clinical)
    Matta Marina CADENA; Soares Diogo CORDEIRO; Kerstenetzky Marcelo SOARES; Freitas Augustus Cesar PINTO; Chong Ae KIM et al. 2016. Cd4+cd25highfoxp3+ treg deficiency in a brazilian patient with gaucher disease and lupus nephritis. Human immunology. 77, 196-200.
  99. Life Sciences Genetics
    Wade Emma M; Daniel Philip B; Jenkins Zandra A; Mcinerney Leo AIDEEN; Leo PAUL et al. 2016. Mutations in map3k7 that alter the activity of the tak1 signaling complex cause frontometaphyseal dysplasia. American journal of human genetics. 14, epub-.
  100. Health Sciences Medicine (miscellaneous)
    Dias Alexandre TORCHIO; Zanardo Évelin ALINE; Dutra Roberta LELIS; Piazzon Flavia BALBO; Novo Filho Gil MONTEIRO et al. 2016. Post-mortem cytogenomic investigations in patients with congenital malformations. Experimental and molecular pathology (print). 20, epub-.
  101. Health Sciences General Medicine
    Da Silva Fernanda MARCHETTO; Jorge Alexander AUGUSTO; Malaquias ALEXANDRA; Da Costa Pereira ALEXANDRE; Yamamoto Guilherme LOPES et al. 2016. Nutritional aspects of noonan syndrome and noonan-related disorders. American journal of medical genetics. part a. 170, 1525-1531.
  102. Life Sciences Genetics
    Araujo Thaís FENZ; Ribeiro Erlane MARQUES; Arruda Anderson PONTES; Moreno Carolina ARAUJO; De Medeiros Paula Frassinetti VASCONCELOS et al. 2016. Molecular analysis of the ctsk gene in a cohort of 33 brazilian families with pycnodysostosis from a cluster in a brazilian northeast region. European journal of medical research. 21, 33-.
  103. Health Sciences Medicine (miscellaneous)
    Bonamichi Beatriz D S F; Santiago Stella L M; Bertola Débora R; Chong Ae KIM; Alonso NIVALDO et al. 2016. Long-term follow-up of a female with congenital adrenal hyperplasia due to p450-oxidoreductase deficiency. Archives of endocrinology and metabolism. 60, 500-504.
  104. Life Sciences Genetics
    K HA; P ANAND; J A LEE; J R JONES; Chong Ae KIM et al. 2016. Steric clash in the set domain of histone methyltransferase nsd1 as a cause of sotos syndrome and its genetic heterogeneity in a brazilian cohort. Genes. 7, epub-epub.
  105. Health Sciences Pediatrics, Perinatology and Child Health
    Novo Filho Gil M; Montenegro Marília M; Zanardo Évelin A; Dutra Roberta L; Dias Alexandre T et al. 2016. Subtelomeric copy number variations: the importance of 4p/4q deletions in patients with congenital anomalies and developmental disability. Cytogenetic and genome research (online). 149, 241-246.
  106. Health Sciences Neurology (clinical)
    Asammour Z M; De Bessa J; M HISANO; H BRUSCHINI; Chong Ae KIM et al. 2016. Lower urinary tract symptoms in children and adolescents with williams-beuren syndrome. Journal of pediatric urology. 13, 203-.
  107. Life Sciences Genetics
    Ellaine Doris CARVALHO; Rachel S HONJO; Monize LAZER; Guilherme Lopes YAMAMOTO; Katia Rocha NASLAVISKY et al. 2015. Schinzel-giedion syndrome in two brazilian patients: report of a novel mutation in setbp1</i> and literature review of the clinical features. American journal of medical genetics. part a. epub, n/a-n/a.
  108. Health Sciences Pediatrics, Perinatology and Child Health
    Larissa Athayde COSTA; Stephanie PEGLER; Rute LELIS; Vera J KREBS; Tim MORGAN et al. 2015. Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. Revista da associação médica brasileira. 61, 407-410.
  109. Health Sciences Genetics (clinical)
    F Sperb LUDWIG; T ALEGRA; R V VELHO; N LUDWIG; Chong Ae KIM et al. 2015. Exome sequencing for mucolipidosis iii: detection of a novel gnptab gene mutation in a patient with a very mild phenotype. Molecular genetics and metabolism reports. 2, 34-37.
  110. Life Sciences Genetics
    Bertola DR; Maria Rita Passos BUENO; Alexandre C PEREIRA; Chong Ae KIM; Tim MORGAN et al. 2015. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in and an atypical paternal phenotype: insights into genotype-phenotype correlation. American journal of medical genetics. part a. epub, epub-epub.
  111. Health Sciences Neurology (clinical)
    Paz José Albino DA; Chong Ae KIM; Goossens MICHAEL; Giurgea IRINA; Marques Dias Maria JOAQUINA. 2015. Mowat-wilson syndrome: neurological and molecular study in seven patients. Arquivos de neuro-psiquiatria (impresso). 73, 12-17.
  112. Health Sciences Genetics (clinical)
    Guilherme Lopes YAMAMOTO; Meire AGUENA; Gos M; Hung C; Pilch J et al. 2015. Rare variants in sos2 and lztr1 are associated with noonan syndrome. Journal of medical genetics (print). epub, epub-.
  113. Life Sciences Genetics
    Kelmann Samantha VERNASCHI; Quaio Caio Robledo D Angioli COSTA; Honjo Rachel SAYURI; Debora Romeo BERTOLA; Rosa Neto Nilton SALLES et al. 2015. Multicentric study on the diagnosis of fabry's disease using angiokeratoma biopsy registries. International journal of dermatology. epub, n/a-n/a.
  114. Life Sciences Genetics
    Larissa S A COSTA; A C Zandoná TEIXEIRA; Marilia M MONTENEGRO; Alexandre DIAS; Roberta Lelis DUTRA et al. 2015. Williams-beuren syndrome: a clinical study of 55 brazilian patients and the diagnostic use of mlpa. Biomed res int. 2015, 1-6.
  115. Life Sciences Genetics
    Costa Larissa Sampaio De ATHAYDE; Zandona Teixeira Aline C; Montenegro Marilia M; Dias Alexandre T; Dutra Roberta L et al. 2015. Cytogenomic delineation and clinical follow-up of 10 brazilian patients with pallister-killian syndrome. Molecular cytogenetics. 8, epub-.
  116. Life Sciences Genetics
    Roberta L DUTRA; Zanardo Evelin ALINE; Costa Thaís Virgínia Moura MACHADO; Montenegro Marília MOREIRA; Novo Filho Gil MONTEIRO et al. 2015. Rare genomic rearrangement in a boy with williams-beuren syndrome associated to xyy syndrome and intriguing behavior. American journal of medical genetics. part a. sep, n/a-n/a.
  117. Health Sciences Pediatrics, Perinatology and Child Health
    Hatagami Marques J LIA; Lopes Yamamoto GUILHERME; De C Ssia Testai LARISSA; Da Costa Pereira ALEXANDRE; Chong Ae KIM et al. 2015. Intragenic deletion in the lifr</i></b> gene in a long-term survivor with st-ve-wiedemann syndrome. Molecular syndromology. 6, 87-90.
  118. Social Sciences & Humanities Psychology (miscellaneous)
    Carla M CAMPOS; E A ZANARDO; R L DUTRA; Kulikowski Leslie D; Chong Ae KIM. 2015. Investigation of copy number variation in children with conotruncal heart defects. Arquivos brasileiros de cardiologia (impresso). 104, 24-31.
  119. Life Sciences Genetics
    Caio R QUAIO; Yu Kar Ling KODA; Debora R BERTOLA; Maja SUKALO; Martin ZENKER et al. 2014. Case report johanson-blizzard syndrome: a report of gender-discordant twins with a novel ubr1 mutation. Genetics and molecular research. 13, 4159-4164.
  120. Life Sciences Genetics
    Guilherme Lopes YAMAMOTO; Wagner A R BARATELA; Tatiana F ALMEIDA; Monize LAZAR; Maria K O YAMADA et al. 2014. Mutations in pcyt1a cause spondylometaphyseal dysplasia with cone-rod dystrophy. American journal of human genetics. 94, 113-119.
  121. Life Sciences Genetics
    F BORLOT; P ARANTES; C QUAIO; José FRANCO; I GOMY et al. 2014. Mucopolysaccharidosis type iva: evidence of primary and secondary central nervous system involvement. American journal of medical genetics. part a. n/a-n/a.
  122. Life Sciences Genetics
    Guilherme Roberta SANTOS; Soares Karina CUNHA; Simioni MILENA; Vieira Tarsis PAIVA; Gil Da Silva Lopes Vera LÚCIA et al. 2014. Clinical; cytogenetic; and molecular characterization of six patients with ring chromosomes 22; including one with concomitant 22q11.2 deletion. American journal of medical genetics. part a. epub, n/a-n/a.
  123. Health Sciences Medicine (miscellaneous)
    Dornelles Alícia DORNELES; Pinto Louise Lapagesse De CAMARGO; Ana Carolina De PAULA; Steiner Carlos EDUARDO; Lourenço Charles MARQUES et al. 2014. Enzyme replacement therapy for mucopolysaccharidosis type i among patients followed within the mps brazil network. Genetics and molecular biology (impresso). 37, 23-29.
  124. Health Sciences Neurology (clinical)
    Ferlippe BORLOT; P R ARANTES; Capel Cardoso A C; Chong Ae KIM. 2014. Remote spinal cord injury in mucopolysaccharidosis type iva after cervical decompression. Neurology (cleveland; ohio). 82, 1382-1383.
  125. Health Sciences Genetics (clinical)
    Leuridan C TORRES; Diogo C SOARES; Leslie D KULIKOWSKI; Jose F Franco Da SILVA; Chong Ae KIM. 2014. Nk and b cell deficiency in a mps type ii with novel mutation in the ids gene. Clinical immunology (orlando; fla. print). 154, 100-104.
  126. Health Sciences Medicine (miscellaneous)
    Bertola Débora R; Yamamoto Guilherme L; Almeida Tatiana F; Buscarilli MICHELLE; Jorge Alexander A L et al. 2014. Further evidence of the importance of in noonan syndrome. American journal of medical genetics. part a. epub, n/a-n/a.
  127. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Tatiana F ALMEIDA; Diogo C Q SOARES; Quaio CR; Honjo Rachel S; D R BERTOLA et al. 2014. Lipoid proteinosis: rare case confirmed by ecm1 mutation detection. International journal of pediatric otorhinolaryngology (print). epub, epub-epub.
  128. Health Sciences Genetics (clinical)
    D Angelo Carla S; Varela Monica C; De Castro Cláudia IE; Chong Ae KIM; Bertola Débora R et al. 2014. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Molecular cytogenetics. 7, epub-.
  129. Social Sciences & Humanities Psychology (miscellaneous)
    Campos Carla Marques RONDON; Zanardo Evelin ALINE; Dutra Roberta LELIS; Kulikowski Leslie DOMENICI; Chong Ae KIM. 2014. Investigation of copy number variation in children with conotruncal heart defects. Arquivos brasileiros de cardiologia (impresso). 104, 24-31.
  130. Life Sciences Genetics
    M S GRASSI; C M JACOB; Kulikowski Leslie DOMENICI; A C PASTORINO; R L DUTRA et al. 2014. Congenital heart disease as a warning sign for the diagnosis of the 22q11.2 deletion. Arquivos brasileiros de cardiologia (impresso). 382-390.
  131. Life Sciences Genetics
    Zanardo Évelin ALINE; Piazzon Flavia BALBO; Dutra Roberta LELIS; Dias Alexandre TORCHIO; Montenegro Marília MOREIRA et al. 2014. Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome. Molecular genetics and genomics (print). 289, 1037-43.
  132. Health Sciences Medicine (miscellaneous)
    Sammour Zein M; Gomes Cristiano M; De Bessa JOSE; Pinheiro Marcello S; Chong Ae KIM et al. 2014. Congenital genitourinary abnormalities in children with williams-beuren syndrome. Journal of pediatric urology. 10, 804-809.
  133. Life Sciences Neuroscience (miscellaneous)
    Michele Moreira NUNES; Rachel Sayuri HONJO; Roberta Lelis DUTRA; Vera Alice S AMARAL; H K OH et al. 2013. Assessment of intellectual and visuo-spatial abilities in children and adults with williams syndrome. Universitas psychologica. 12, 581-589.
  134. Social Sciences & Humanities Psychology (miscellaneous)
    Vera Alice S AMARAL; Michele Moreira NUNES; R HONJO; Roberta Lelis DUTRA; Francisco Baptista Assumpção JÚNIOR et al. 2013. Estresse em crianças e adolescentes com síndrome de williams-beuren no contexto escolar. Psicologia escolar e educacional (impresso). 17, 105-112.
  135. Life Sciences Neuroscience (miscellaneous)
    M MOREIRA; F PIAZZON; D CARVALHO; C QUAIO; T Della MANNA et al. 2013. A dominant abcc8-related hyperinsulinism: familial case report. Fetal and pediatric pathology. 54, 35-41.
  136. Life Sciences Neuroscience (miscellaneous)
    Debora Romeo BERTOLA; Melina G RODRIGUES; Caio R QUAIO; Chong Ae KIM; Maria Rita Passos BUENO. 2013. Vertical transmission of a frontonasal phenotype caused by a novel alx4 mutation. American journal of medical genetics. part a. 161, 600-4.
  137. Life Sciences Genetics
    Carla S DÁNGELO; I KOHL; Monica C VARELA; Claudia De CASTRO; Chong Ae KIM et al. 2013. Obesity with associated developmental delay and/or learning disability in patients exibiting additional features: report of novel pathogenic copy number variants. American journal of medical genetics. part a. 161, 479-86.
  138. Health Sciences Medicine (miscellaneous)
    Gabriela N LEAL; Ana C De PAULA; Samira S MORHY; José L ANDRADE; Chong Ae KIM. 2013. Advantages of early replacement therapy for mucopolysaccharidosis type vi:echocardiogrphic follow-up of sibilings. Cardiology in the young. 20, 254-261.
  139. Life Sciences Genetics
    Felippe BORLOT; L D KULIKOWSKI; Chong Ae KIM. 2013. A novel mutation in hprt1 gene causing variant form of lesch-nyhan disease. Pediatric neurology. 49, e5-e7.
  140. Health Sciences Genetics (clinical)
    Nikkel Sarah M; Dauber ANDREW; De Munnik SONJA; Connolly MEGHAN; Hood Rebecca L et al. 2013. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of srcap. Orphanet journal of rare diseases. 8, 63-.
  141. Life Sciences Genetics
    Fonseca Ana CAROLINA; Bonaldi ADRIANO; Bertola Débora R; Chong Ae KIM; Otto Paulo A et al. 2013. The clinical impact of chromosomal rearrangements with breakpoints upstream of the sox9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. Bmc medical genetics (online). 14, 50-.
  142. Life Sciences Genetics
    Cury G K; U MATTE; Artigalás O; Taciane ALEGRA; Velho R V et al. 2013. Mucolipidoses ii and iii alpha/beta in brazil: analysis of the gnptab gene. Gene (amsterdam). Apr 6, Epub-.
  143. Health Sciences Genetics (clinical)
    Horovitz Dafne D G; Magalhães Tatiana S P C; Acosta ANGELINA; Ribeiro Erlane M; Giuliani Liane R et al. 2013. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with mps vi. Molecular genetics and metabolism (print). 109, 62-69.
  144. Life Sciences Genetics
    Guilherme Roberta SANTOS; Chong Ae KIM; Alonso Luis GARCIA; Honjo Rachel S; Meloni Vera AYRES et al. 2013. Ring chromosome 10: report on two patients and review of the literature. Journal of applied genetics. 54, 35-41.
  145. Health Sciences Medicine (miscellaneous)
    M V ORTEGOSA; Debora Romeo BERTOLA; M AGUENA; Maria Rita Passos BUENO; Chong Ae KIM et al. 2013. Challenges in the orthodontic treatment of a patient with pycnodysostosis. The cleft palate-craniofacial journal (print). 51, 735-739.
  146. Health Sciences Genetics (clinical)
    Ferlippe BORLOT; Paula ARANTES; Caio R QUAIO; Jose F Franco Da SILVA; Charles LOURENÇO et al. 2013. New insights in mucopolysaccharidosis type vi: neurological perspective. Brain & development (tokyo. 1979). 585-592.
  147. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    A SPREIZ; R S GUILHERME; C CASTELLANE; A GREN; O RITTINGER et al. 2013. Single-nucleotide polymorphism array-based characterization of ring chromosome 18. The journal of pediatrics. 163, 1174-8.
  148. Life Sciences Neuroscience (miscellaneous)
    Quaio CR; Almeida TF; Brasil AS; Pereira AC; Jorge AA et al. 2013. Tegumentary manifestations of noonan and noonan-related syndromes. Clinics (usp. impresso). 68, 1079-1083.
  149. Life Sciences Genetics
    Petit FLORENCE; Escande FABIENNE; Jourdain Anne SOPHIE; Porchet NICOLE; Amiel JEANNE et al. 2013. Nager syndrome: report on 14 families and confirmation of haploinsufficiency as the major cause. Clinical genetics. epub, n/a-n/a.
  150. Life Sciences Genetics
    M B MOREIRA; C R QUAIO; A C Zandoná TEIXEIRA; G M Novo FILHO; E A ZANARDO et al. 2013. Discrepant outcomes in two brazilian patients with bloom syndrome and wilm´s tumor: two case reports. Journal of medical case reports. 30, 284-.
  151. Health Sciences Pediatrics, Perinatology and Child Health
    M J GRAY; Chong Ae KIM; Debora Romeo BERTOLA; P R ARANTES; H STEWART et al. 2012. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of hajdu-cheney syndrome. European journal of human genetics. 20, 122-124.
  152. Health Sciences Neurology (clinical)
    Lenina Rocha Pitta MARIN; Felipe Theodoro Bezerra Gaspar Carvalho Da SILVA; F V M SÁ; A S BRASIL; A PEREIRA et al. 2012. Ocular manifestations of noonan syndrome. Ophthalmic genetics. 33, 1-5.
  153. Health Sciences Medicine (miscellaneous)
    Caio Robledo D C QUAIO; Henrique GRINBERG; M L C VIEIRA; Ana Carolina PAULA; G N LEAL et al. 2012. Report of a large brazilian family with a very attenuated form of hunter syndrome (mps ii). Journal of inherited metabolic disease. 4, 125-8.
  154. Health Sciences Medicine (miscellaneous)
    Henrique GRINBERG; Caio Robledo D C QUAIO; Monica Samuel AVILA; Silvia Moreira Ayub FERREIRA; Marcelo Luiz Campos VIEIRA et al. 2012. The first cardiac transplant experience in a patient with mucopolyssaccharidosis. Cardiovascular pathology. 21, 358-60.
  155. Life Sciences Genetics
    Debora Romeo BERTOLA; A C PEREIRA; A S BRASIL; L SUZUKI; C LEITE et al. 2012. Multiple; diffuse schwannomas in a rasopathy phenotype patient with germline kras mutation: a causal relationship. Clinical genetics. 81, 595-597.
  156. Life Sciences Genetics
    Roberta Lelis DUTRA; Rachel Sayuri HONJO; Leslie Domenici KULIKOWSKI; Fernanda Andrade Macaferri FONSECA; Patrícia PIERI et al. 2012. Copy number variation in williams-beuren syndrome: suitable diagnostic strategy for developing countries. Bmc research notes. 9, 5-13.
  157. Life Sciences Genetics
    Rebecca L HOOD; Matthew A LINES; Sara NIKKEL; Jeremy SCHWARTZENTRUBER; Chandree BEAULIEU et al. 2012. Mutations in srcap; snf2 - related crebbp activator protein; cause floating-harbor syndrome. American journal of human genetics. 90, 308-313.
  158. Life Sciences Genetics
    Rafael DENADAI; Cassio Eduardo Raposo AMARAL; Debora Romeo BERTOLA; Chong Ae KIM; Nivaldo ALONSO et al. 2012. Identification of 2 novel antxr 2 mutations in brazilian patients with hyaline fibromatosis syndrome and proposal of grading system. American journal of medical genetics. part a. epub, epub-epub.
  159. Life Sciences Neurology
    Caio Robledo D C QUAIO; J F CARVALHO; C R S SILVA; C BUENO; A S BRASIL et al. 2012. Autoimmune disease and multiple autoantibodies in 42 patients with rasopathies. American journal of medical genetics. part a. 158(A), 1077-1082.
  160. Health Sciences Medicine (miscellaneous)
    Andreas ZANKI; Emma L DUNCAN; Paul J LEO; Graeme R CLARK; Evgeny A GLAZOV et al. 2012. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of mafb. American journal of human genetics. 90, 494-501.
  161. Life Sciences Genetics
    A S BRASIL; A C MALAQUIAS; L T WANDERLEY; Chong Ae KIM; J E KRIEGER et al. 2012. Kras gene mutation in noonan syndrome familial cases cluster in the vinicity of the switch ii region of the g-domain: report of another familly with metopic craniosynostosis. American journal of medical genetics. part a. 158(A), 1178-1184.
  162. Life Sciences General Biochemistry, Genetics and Molecular Biology
    Caio Robledo D C QUAIO; Roberta Lelis DUTRA; A S BRASIL; A C PEREIRA; Chong Ae KIM et al. 2012. A possible role of different ptpn genes in immune regulation. Scandinavian journal of immunology (print). 75, 540-541.
  163. Health Sciences Pediatrics, Perinatology and Child Health
    Z M SAMMOUR; C M GOMES; J Bessa JR; M S PINHEIRO; Chong Ae KIM et al. 2012. The effects of oxybutynin on urinary symptoms in children with williams-beuren syndrome. The journal of urology. 188, 253-257.
  164. Life Sciences Genetics
    Fernanda Santos PEREIRA; U MATTE; Clarissa Troller HABEKOST; Raphael Machado CASTILHOS; Antonette Souto E HUSNY et al. 2012. Mutations; clinical findings and survival estimates in south american patients with x-linked adrenoleukodystrophy. Plos one. 7, e34195-e34195.
  165. Health Sciences Neurology (clinical)
    Caio Robledo D C QUAIO; Tatiana Ferreira ALMEIDA; L M J ALBANO; C R S SILVA; Israel GOMY et al. 2012. A clinical follow-up of 35 brazilian patients with prader-willi syndrome. Clinics (usp. impresso). 67, 917-921.
  166. Life Sciences Genetics
    A R N DUTRA; T I MANCINI; S S TAKENO; M M OLIVEIRA; Chong Ae KIM et al. 2012. Different conformation of two supernumerary 18p isochromosomes; one with a concomitant partial 18q trisomy. Cytogenetic and genome research (printed ed.). 138l, Epub-Epub.
  167. Life Sciences Neurology
    Rachel Sayuri HONJO; Roberta Lelis DUTRA; M M NUNES; Israel GOMY; Leslie Domenici KULIKOWSKI et al. 2012. Atypical deletion in williams-beuren syndrome critical region detected by mlpa in a patient with supravavular aortic stenosis and learning difficulty. Journal of genetics and genomics. 39, 571-574.
  168. Life Sciences General Biochemistry, Genetics and Molecular Biology
    De Queiroz Soares Diogo CORDEIRO; Dutra Roberta LELIS; D Angioli Costa Quaio Caio ROBLEDO; Melaragno Maria ISABEL; Kulikowski Leslie DOMENICI et al. 2012. Role of snap29; lztr1 and p2rxl1 genes on immune regulation in a patient with atypical 0.5mb deletion in 22q11.2 region. Clinical immunology (orlando; fla. print). 145, 55-58.
  169. Life Sciences Genetics
    Smith HOLLY; Galmes ROMAIN; Gogolina EKATERINA; Straatman Iwanowska ANNA; Reay KIM et al. 2012. Associations among genotype; clinical phenotype; and intracellular localization of trafficking proteins in arc syndrome. Human mutation. 33, 1656-1664.
  170. Health Sciences Neurology (clinical)
    Mariana C MOREIRA; Caio Robledo D C QUAIO; I GOMY; Debora R BERTOLA; Chong Ae KIM. 2012. Manchas hipomelanocíticas associadas à epilepsia: alerta ao diagnóstico de esclerose tuberosa. Revista de medicina (usp). 91, 117-119.
  171. Social Sciences & Humanities Psychology (miscellaneous)
    Maria Cristina T V TEIXEIRA; Deisy EMERICH; Fernanda ORSATI; Rafaela RIMERIO; Karina GATTO et al. 2011. A description of adaptive and mal-adaptive behaviour in children and adolescents with cri-du-chat syndrome. Jidr. journal of intellectual disability research (print). 55, 132-137.
  172. Life Sciences Genetics
    Cristiane B BARRA; Roberta D SAVOLDELLI; Thais D MANNA; Chong Ae KIM; J MAGRE et al. 2011. Genetic and metabolic description of five patients with berardinelli-seip syndrome. Arquivos brasileiros de endocrinologia e metabologia (impresso). 55, 54-59.
  173. Life Sciences Neurology
    A P VECCHI; E BORBA; E BONFÁ; Patrícia PIERI; Chong Ae KIM et al. 2011. Penile anthrometry in systemic lupus erythematosus patients. Lupus (basingstoke). 20, 512-518.
  174. Life Sciences Genetics
    Roberta Lelis DUTRA; Patrícia PIERI; Fernanda Andrade Macaferri FONSECA; Ana Carolina Dias TEIXEIRA; Rachel Sayuri HONJO et al. 2011. Detection of deletion at 7q11.23 in williams-beuren syndrome by polymorphic markers. Clinics (usp. impresso). 66, 959-964.
  175. Health Sciences Psychiatry and Mental Health
    F S JEHEE; J T TAKAMORI; P F Vasconcelos MEDEIROS; A C PORDEUS; F R LATINI et al. 2011. Using a combination of mlpa kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European journal of medical genetics. 54, 425-432.
  176. Life Sciences Genetics
    M A SIMPSON; M D IRVING; E ASILMAZ; M J GRAY; D DAFOU et al. 2011. Mutations in notch2 cause hajdu-cheney syndrome; a disorder of severe and progressive bone loss. Nature genetics. 43, 303-305.
  177. Life Sciences Neurology
    M M NUNES; Rachel Sayuri HONJO; Roberta Lelis DUTRA; Vera A S AMARAL; Hong Keun OH et al. 2011. High frequency of autistic traits in williams-beuren patients. Pediatria (são paulo). 33, 81-88.
  178. Life Sciences Genetics
    A BONALDI; Juliana MAZZEU; S S COSTA; Rachel Sayuri HONJO; Debora Romeo BERTOLA et al. 2011. Microduplication of the icr2 domain at chromosome 11p15 and familial silver-russell syndrome. American journal of medical genetics. part a. 155(A), 2479-83.
  179. Life Sciences Neuroscience (miscellaneous)
    Roberta Dos Santos GUILHERME; V F A MELONI; Chong Ae KIM; R PELLEGRINO; S S TAKENO et al. 2011. Mechanisms of ring chromosome formation; ring instability and clinical consequences. Bmc medical genetics (online). 12, 171 epub-epub.
  180. Health Sciences Medicine (miscellaneous)
    H K SATO; A T SANAJOTTA; J C MORAES; J Q ANDRADE; G DUARTE et al. 2011. Rubella vaccination of unknowngly pregnant women: the são paulo experience 2001. The journal of infectious diseases. Sep 1, S737-744.
  181. Life Sciences Genetics
    Kurban MAZEN; Chong Ae KIM; Kiuru MAIJA; Fantauzzo KATHERINE; Cabral RITA et al. 2011. Copy number variations on chromosome 4q26¿27 are associated with cantu syndrome. Dermatology. 223, 316-320.
  182. Health Sciences Psychiatry and Mental Health
    Erica R MOTA; D R BERTOLA; Chong Ae KIM; Maria Cristina T V TEIXEIRA. 2010. Alterações comportamentais na síndrome de noonan: dados preliminares brasileiros. Revista latinoamericana de psicología. 42, 87-95.
  183. Life Sciences Neurology
    Ivanete Chaves SBRUZZI; A C PEREIRA; Beatriz VASCONCELOS; Rachel Sayuri HONJO; J E KRIEGER et al. 2010. Williams-beuren syndrome:diagnosis by polymorphic markers. Genetic testing. 14, 209-214.
  184. Social Sciences & Humanities Psychology (miscellaneous)
    Maria Luiza G De MESQUITA; Decio BRUNONI; João Monteiro De Pina NETO; Chong Ae KIM; Márcia Helena S MELO et al. 2010. Fenótipo comportamental de crianças e adolescentes com síndrome de prader-willi. Revista paulista de pediatria (impresso). 28, 63-69.
  185. Health Sciences Medicine (miscellaneous)
    G N LEAL; Ana Carolina PAULA; C LEONE; Chong Ae KIM. 2010. Echocardiographic study of paediatric patients with mucopolycaccharidosis. Cardiology in the young. 20, 254-61.
  186. Health Sciences Medicine (miscellaneous)
    A S BRASIL; A C PEREIRA; Luciana T WANDERLEY; Chong Ae KIM; A C MALAQUIAS et al. 2010. Ptpn11 and kras gene analysis in patients with noonan and noonan-like syndromes. Genetic testing. 14, 425-432.
  187. Life Sciences Neurology
    Debora Romeo BERTOLA; Cassio AMARAL; Chong Ae KIM; L M J ALBANO; Meire AGUENA et al. 2010. Craniosynostosis in pycnodysostosis: broading the spectrum of the cranial flat bone abnormalities. American journal of medical genetics. part a. 152A, 2599-2603.
  188. Health Sciences Medicine (miscellaneous)
    A B F FOMIN; A C PASTORINO; Chong Ae KIM; A C PEREIRA; M Carneiro SAMPAIO et al. 2010. Digeorge syndrome: a not so rare syndrome. Clinics (usp. impresso). 65, 865-869.
  189. Health Sciences Genetics (clinical)
    Roberto GIUGLIANI; A FEDERHEN; M V MUNOZ; T A VIEIRA; O ARTIGALÁS et al. 2010. Enzyme replacement the therapy fro mucopolysaccharidoses: i;ii and vi: recommendation from a group of brazilian f experts. Revista da associação médica brasileira (1992. impresso). 56, 271-277.
  190. Life Sciences Neurology
    A C Krepischi SANTOS; J KNIJNENBURG; D R BEROLA; Chong Ae KIM; P L PEARSON et al. 2010. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia (copenhagen). 51, 2457-2460.
  191. Social Sciences & Humanities Psychology (miscellaneous)
    Maria Cristina T V TEIXEIRA; Camila Rondinelli Cobra MONTEIRO; Renata De Lima VELLOSO; Chong Ae KIM; Luiz Renato Rodrigues CARREIRO. 2010. Behavioral and cognitive phenotype of children and adolescent with williams-beuren syndrome. Pró-fono (impresso). 22, 215-220.
  192. Life Sciences Neuroscience (miscellaneous)
    L A PRAXEDES; F M PEREIRA; Juliana MAZZEU; S S COSTA; Debora Romeo BERTOLA et al. 2010. All ilustrative case of neurofibromatosis type 1 and nf1microdeletion. Molecular syndromology. 1, 133-135.
  193. Life Sciences Genetics
    A S BRASIL; Chong Ae KIM; J KRIEGER; A C PEREIRA; Debora Romeo BERTOLA. 2010. Co-ocurring ptpn11 and sos1 gene mutations in noonan syndrome: does this predict a more severe phenotype?. Arquivos brasileiros de endocrinologia e metabologia (impresso). 54, 713-718.
  194. Health Sciences Medicine (miscellaneous)
    Debora Romeo BERTOLA; Meire AGUENA; G L YAMAMOTO; Chong Ae KIM; M R Passo BUENO. 2010. Obesity in pycnodisostosis due to upd1: possible effect of an imprinted gene in chromosome 1. American journal of medical genetics. part a. 152A, 2599-2603.
  195. Health Sciences Medicine (miscellaneous)
    Roberto GIUGLIANI; A FEDERHEN; Maria Veronica Munoz ROJAS; Taiane VIEIRA; O ARTIGALÁS et al. 2010. Mucopolysaccharidosis i;ii and vi: brief review and guidelines for treatment. Genetics and molecular biology (impresso). 33, 589-604.
  196. Health Sciences Genetics (clinical)
    Rachel Sayuri HONJO; E B CASELLA; M A VIEIRA; Debora Romeo BERTOLA; L M J ALBANO et al. 2009. Spondylocostal dysostosis associated with methylmalonic aciduria. Genetic testing. 13, 181-183.
  197. Health Sciences Neurology (clinical)
    Debora Romeo BERTOLA; Maria Juliana Rodovalho DORIQUI; Reynaldo ANTEQUERA; Rachel Sayuri HONJO; L M J ALBANO et al. 2009. Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. American journal of medical genetics. part a. 149A, 532-4.
  198. Life Sciences Genetics
    Patrícia PIERI; Jeronimo Alencar NOGUEIRA; Maria Joaquina Marques DIAS; Bernadete RESENDE; Chong Ae KIM et al. 2009. A duplex-allele specific amplification (aso)- pcr to detect smn1 deletion. Genetic testing. 13, 1-4.
  199. Health Sciences Genetics (clinical)
    Isabel Mosca FURQUIM; Rachel Sayuri HONJO; Ricardo BAE; Wagner ANDRADE; Maria SANTOS et al. 2009. Proteus syndrome: report of a case with recurrent abdominal lipomatosis. Journal of pediatric surgery. 44, E1-E4.
  200. Health Sciences Dermatology
    L M J ALBANO; M C RIVITTI; Debora Romeo BERTOLA; Rachel Sayuri HONJO; Samantha V KELMAN et al. 2009. Angiokeratoma: a cutaneous marker of fabry disease. Clinical and experimental dermatology (print). 35, 505-508.
  201. Life Sciences Clinical Biochemistry
    C S TEIXEIRA; Claudia Renata LEITE; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO et al. 2009. Dental evaluation of kabuki syndrome patients. Cleft palate-craniofacial journal. 46, 668-673.
  202. Life Sciences Neuroscience (miscellaneous)
    C S D ANGELO; M GAJECKA; Chong Ae KIM; A J GENTLES; C D GLOTZBACH et al. 2009. Further delineation of non homologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Human genetics. 125, 551-63.
  203. Life Sciences Genetics
    Maria H VAISBICH; Juliana CARNEIRO; Wolfanga BÓSON; Bruna RESENDE; Luiz MARCO et al. 2009. Nephrogenic diabetes insipidus (ndi):clinical;laboratory and genetic characterization of five brazilian patients. Clinics (são paulo). 64, 409-14.
  204. Life Sciences Genetics
    C Q FAGALI; F KOK; Pablo NICOLA; Chong Ae KIM; Debora Romeo BERTOLA et al. 2009. Mlpa analysis in 30 sotos syndrome patients revealed one total nsd1 deletion and two partial deletion not previously reported. European journal of medical genetics. 52, 333-6.
  205. Life Sciences Neurology
    Pedro J G PEREIRA; L A N OLIVEIRA; D R BEROLA; Rachel Sayuri HONJO; Isabel Mosca FURQUIM et al. 2009. Displasia cleidocraniana:relato de doze pacientes. Pediatria (são paulo). 31, 81-86.
  206. Health Sciences Pediatrics, Perinatology and Child Health
    E KUCZYSNSKI; Debora Romeo BERTOLA; C I E CASTRO; Celia P KOIFFMANN; Chong Ae KIM. 2009. Infantile sutism and 47; xyy karyotype. Arquivos de neuro-psiquiatria (impresso). 67, 717-8.
  207. Health Sciences Genetics (clinical)
    Nathan E FRENK; Chong Ae KIM; Noemie M ORII; Dewton M VASCONCELOS; Magda Carneiro SAMPAIO. 2009. Basic evaluation of the immune competence of brazilian `patients with kabuki syndrome. Pediatria (são paulo). 31, 170-177.
  208. Health Sciences Medicine (miscellaneous)
    A L CATALLANI; A C Krepischi SANTOS; Chong Ae KIM; F KOK; P A OTTO et al. 2009. Chromosomal imbalances in syndromic hearing loss. Clinical genetics. 76, 458-64.
  209. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    I V SCHWARTZ; L L PINTO; G BREDA; L LIMA; M RIBEIRO et al. 2009. Clinical and biochemical studies in mucopolysaccharidosis type ii carriers. Journal of inherited metabolic disease. 32, 732-738.
  210. Health Sciences Cardiology and Cardiovascular Medicine
    C S D ANGELO; I KOHL; M C VARELA; C I E CASTRO; Chong Ae KIM et al. 2009. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. American journal of medical genetics. part a. 152 A, 102-110.
  211. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Lorena TRAVAGIU; Francesco BRANCATI; Tana Attie BITACHI; Sophie AUDOLLENT; Enrico BERTINI et al. 2009. Expanding cep 290 mutacional spectrum in ciliopathies. American journal of medical genetics. part a. 149A, 2173-2180.
  212. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; M DELÉPINE; E BOUTET; H El MOURABIT; S Le LAY et al. 2008. Association of a homozygous nonsense caveolin-1 mutation with berardinelli-seip congenital lipodystrophy. The journal of clinical endocrinology and metabolism. 93, 1129-1134.
  213. Life Sciences Neurology
    C CHEROKI; A C Krepischi SANTOS; K SZUNAI; V BRENNER; Chong Ae KIM et al. 2008. Genomic imbalances associated with mullerian aplasia. Journal of medical genetics. 45, 228-232.
  214. Health Sciences Genetics (clinical)
    T A VIEIRA; I V SCHWARTZ; M V MUNOZ; L PINTO; C E STEINER et al. 2008. Mucopolysaccharidoses in brazil:what happens from birth to biochemical diagnosis?. American journal of medical genetics. part a. 146A, 1741-1747.
  215. Health Sciences Neurology (clinical)
    Chong Ae KIM; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO; L A N OLIVEIRA et al. 2008. A known sost gene mutation causes sclerosteosis in a familial and an isolated case from brazilian origin. Genetic testing. 12, 475-479.
  216. Health Sciences Radiology, Nuclear Medicine and Imaging
    F S JEHEE; A C Krepischi SANTOS; K M ROCHA; D P CAVALCANTI; Chong Ae KIM et al. 2008. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined apprach of microsatellite segregation analysis; multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of medical genetics. 45, 447-450.
  217. Health Sciences Medicine (miscellaneous)
    F BRANCATI; L TRAVAGLINI; D ZABLOCKA; P ACCORSI; G MONTAGNA et al. 2008. Rpgrip1l mutations are mainly associated with the cerebello-renal phenotype of joubert syndrome-related disorders. Clinical genetics. 74, 164-170.
  218. Life Sciences Genetics
    L A PRAXEDES; Jenneke Van Den ENDE; Yolande Van BEVER; Chong Ae KIM; P A OTTO. 2008. Genetic and clinical aspects of neurofibromatosis type i:study of a large sample of affected brazilian individuals. Rbm. revista brasileira de medicina (rio de janeiro). 65, 331-336.
  219. Life Sciences Genetics
    B VASCONCELOS; S ANTONINI; L M J ALBANO; D R BERTOLA; Rachel Sayuri HONJO et al. 2008. Trissomia; tetrassomia e pentassomia do cromossomo x: relato de 11 casos. Pediatria (usp). 30, 151-158.
  220. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; Debora Romeo BERTOLA; M F BARBA; M VALENTE; S P ROBERTSON et al. 2007. Phenotypic overlap in melnick-needles;serpentine fibula-polycystic kidney and hajdu-cheney syndrome:a clinical and molecular study in three patients. Clinical dysmorphology. 16, 27-33.
  221. Life Sciences Neurology
    Alexander A L JORGE; Silvia C SOUZA; Mirian Y NISHI; Billerbeck A E; Debora C C LIBORIO et al. 2007. Shox mutations in idiopathic short stature and leri-weill dyschondrosteosis: frequency and phenotypic variability. Clinical endocrinology (oxford). 66, 130-135.
  222. Health Sciences Pediatrics, Perinatology and Child Health
    I V SCHWARTZ; M RIBEIRO; J MOTA; Maria Betania P TORALLES; P CORREIA et al. 2007. A clinical study of 77 patients with mucopolysaccharidosis type ii. Acta paediatrica (oslo). 96, 63-70.
  223. Life Sciences Genetics
    L S BICKNELL; C Farrington ROCK; Y SCHAFEGHATI; Y ALEMBIK; N Al MADANI et al. 2007. A molecular and clinical study of larsen syndrome caused by mutations in flnb. Journal of medical genetics. 44, 89-98.
  224. Health Sciences Medicine (miscellaneous)
    B VASCONCELOS; L M J ALBANO; Debora Romeo BERTOLA; I C SBRUZZI; Rachel Sayuri HONJO et al. 2007. Anormalidades cromossômicas nos pacientes atendidos em serviço de genética. Pediatria (usp). 29, 26-32.
  225. Life Sciences Genetics
    Sofia Mizuko Miura SUGAYAMA; C LEONE; M L L F CHAUFFAILLE; T S OKAY; Chong Ae KIM. 2007. Williams syndrome: development of a new scoring system for clinical diagnosis. Clinics (são paulo). 62, 159-166.
  226. Life Sciences Genetics
    D R BERTOLA; A C PEREIRA; A S BRASIL; L M J ALBANO; Chong Ae KIM et al. 2007. Further evidence of genetic heterogeneity in costello syndrome: involvement of the kras gene. Journal of human genetics. 52, 521-526.
  227. Life Sciences Genetics
    F S JEHEE; D R BERTOLA; Krishna K YELAVARTHI; A C Krepischi SANTOS; Chong Ae KIM et al. 2007. An 11q11-q13.3 duplication; including fgf3 and fgf4 genes; in a patient with syndromic multiple craniosynostoses. American journal of medical genetics. part a. 143, 1912-1918.
  228. Life Sciences Genetics
    Juliana MAZZEU; Eliete PARDONO; A M MORGANTE; Antonio Richieri COSTA; Chong Ae KIM et al. 2007. Clinical characterization of autosomal dominant and recessive variants of robinow syndrome. American journal of medical genetics. part a. 143 A, 320-325.
  229. Life Sciences Genetics
    L M J ALBANO; L A OLIVEIRA; D R BEROLA; Juliana MAZZEU; Chong Ae KIM. 2007. Omodysplasia: the first reported brazilian case. Clinics (são paulo). 62, 531-534.
  230. Health Sciences Medicine (miscellaneous)
    Heloísa Helena De Souza MARQUES; Pilar Lecussan GUTIEREZ; Patrícia I Porto RONDINELLI; Neviçoçlino Pereira De Carvalho FILHO; Carlos Alberto Martinez OSÓRIO et al. 2007. Quando o pediatra deve suspeitar de infecção pelo hiv?. Pediatria (são paulo). 29, 9-10.
  231. Life Sciences Clinical Biochemistry
    L D BLOCH; F Y MATSUMOTO; W Jr BELDA; R GIUGLIANI; L F MENEZES et al. 2006. Dermal melanocytosis associated with gm1- gangliosidosis type1. Acta dermato-venereologica. 86, (2) 156-8.
  232. Life Sciences Genetics
    C CHEROKI; A C Krepischi SANTOS; C ROSENBERG; F S JEHEE; R C Mingroni NETO et al. 2006. Report of a del22q11 in a patient with mayer-rokitansky-kuster-houser (mrkh) anomaly and exclusion of wnt-4; rar-gamma; and rxr-alpha as major genes determining mrkh anomaly in a study of 25 affected women. American journal of medical genetics. part a. 140, (12) 1339-42.
  233. Health Sciences Neurology (clinical)
    C S DÁNGELO; J A PAZ; Chong Ae KIM; D R BERTOLA; C I E CASTRO et al. 2006. Prader-willi-like phenotype:investigation of 1p36 deletion in 41 patients with delayed psychomotor development; hypotonia; obesity and/or hyperphagia; learning disabilities and behavioral problems. European journal of medical genetics. 49, 298-305.
  234. Health Sciences Medicine (miscellaneous)
    D R BERTOLA; L M J ALBANO; M E SANO; L M YANO; Chong Ae KIM. 2006. Perfil dos pacientes atendidos no ambulatório de genética em hospital universitário de assistência terciária. Pediatria (usp). 28, (1) 13-7.
  235. Life Sciences Genetics
    A C PAULA; D R BERTOLA; L Mj ALBANO; A C G M SANTOS; F Donato JR et al. 2006. Achados radiológicos em pacientes com mucopolissacaridose tipo vi ( síndrome de maroteaux-lamy). Imagens (campinas). 28, (1) 7-12.
  236. Life Sciences Genetics
    F S JEHEE; L G ALONSO; D P CAVALCANTI; Chong Ae KIM; S A WALL et al. 2006. Mutational screening of fgfr1; cer1; and cdon in a large cohort of trigonocephalic patients. Cleft palate-craniofacial journal. 43, 148-51.
  237. Life Sciences Neurology
    D R BEROLA; Hernian CAO; L M J ALBANO; Daniela P OLIVEIRA; F KOK et al. 2006. Cockayne syndrome type a: novel mutations in eight typical patients. Journal of human genetics. 51, 701-705.
  238. Life Sciences Genetics
    Mariela Leão MUNIZ; Alice Zoghbi Coelho LOBO; M C MACHADO; Neusa Yuriko Sakai VALENTE; Chong Ae KIM et al. 2006. Exuberant juvenile hyaline fibromatosis in two patients. Pediatric dermatology. 23, 458-464.
  239. Life Sciences Genetics
    D R BEROLA; A C PEREIRA; L M J ALBANO; D P OLIVEIRA; Chong Ae KIM et al. 2006. Ptpn11 gene analysis in 74 brazilian patients with noonan syndrome and noonan-like phenotype. Genetic testing. 10, 186-91.
  240. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    A C Krepischi SANTOS; A M Morgante VIANNA; F S JEHEE; M R Passo BUENO; J KNIJNENBURG et al. 2006. Whole-genome array-cgh screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenetic and genome research. 115, 254-261.
  241. Health Sciences Neurology (clinical)
    M C VARELA; F KOK; N SETIAN; Chong Ae KIM; C P KOIFFMANN. 2005. Impact of molecular mechanisms; including deletion size; on prader-willi syndrome phenotype: study of 75 patients. Clinical genetics. Estados Unidos. 67, 47-52.
  242. Social Sciences & Humanities Education
    Chong Ae KIM. 2005. O pediatra e o aconselhamento genético. Pediatria (usp). 27, (1) 25-27.
  243. Life Sciences Clinical Biochemistry
    F S JEHEE; D JOHNSON; L ALONSO; D P CAVALCANTI; E De Sá MOREIRA et al. 2005. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clinical genetics. Estados Unidos. 67, 503-510.
  244. Health Sciences Pediatrics, Perinatology and Child Health
    Minrong AI; Shauna HEEGER; Cynthia F BARTELS; Deborah K SCHELLING; Konrad OEXLE et al. 2005. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. American journal of human genetics. 77, 741-753.
  245. Life Sciences Genetics
    Chong Ae KIM; A KÖNIG; D R BEROLA; L M J ALBANO; G J F GATTÁS et al. 2005. Child syndrome caused by a deletion of exons 6-8 of the nsdhl gene. Dermatology (basel). Estados Unidos. (211) 155-158.
  246. Life Sciences Neurology
    Debora R BERTOLA; Alexandre C PEREIRA; Fabio PASSETTI; Paulo S L De OLIVEIRA; Ludwine MESSIAEN et al. 2005. Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. American journal of medical genetics. part a. 136A, (136A) 242-245.
  247. Life Sciences Genetics
    M F G PETRY; K NONEMACHER; J C SEBBEN; I V D SCHWARTZ; A C M AZEVEDO et al. 2005. Mucopolysaccharidosis type vi:identification of novel mutations on the arylsulphatase b gene in south american patients. Journal of inherited metabolic disease. Estados Unidos. 28, 1027-1034.
  248. Life Sciences Physiology
    F ELEFTEROIUS; S TAKEDA; K EBIHARA; J MAGRE; N PATANO et al. 2004. Serum leptin level is a regulator of bone mass. Pnas. proceedings of the national academy of sciences of the united states of america. Estados Unidos. 2, (101) 3258-3263.
  249. Life Sciences Genetics
    D KRAKOW; S P ROBERTSON; L M KING; T MORGAN; E T SEBALD et al. 2004. Mutations in the gene encoding filamin b disrupt vertebral segmentation; joint formation and skeletogenesis. Nature genetics. Estados Unidos. 36, (4) 405-410.
  250. Health Sciences Medicine (miscellaneous)
    G COUTINHO; M MITUI; C CAMBELL; B T C CARVALHO; S NAHAS et al. 2004. Five haplotypes account for fifty-five percent of atm mutations in brazilian patients with ataxia telengiectasia: seven new mutations. American journal of medical genetics. part a. 126A, 33-40.
  251. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    L M J ALBANO; P P O SAKAE; M M G B MATALOUN; C R LEONE; D R BERTOLA et al. 2004. Hydronephrosis in schinzel-giedion syndrome: an important clue for the diagnosis. Clinics (usp. impresso). 59, (2) 89-92.
  252. Life Sciences Neurology
    C F BARTELS; H BUKULMEZ; P PADAYATTI; D K RHEE; C Van SHIH et al. 2004. Mutations in the transmembrane natriuretic peptide receptor npr-b impair skeletal growth and cause acromesomelic dysplasia; type maroteaux. American journal of human genetics. Estados Unidos. 75, 27-34.
  253. Life Sciences Genetics
    D R BERTOLA; Chong Ae KIM; L Mj ALBANO; H SCHEFFER; R MEIJER et al. 2004. Molecular evidence that aec syndrome and rapp-hodgkin syndrome at variable expression of a single genetic disorder. Clinical genetics. 66, (1) 79-80.
  254. Life Sciences Molecular Biology
    A C AZEVEDO; I V SCHWARTZ; L KALAKUN; S BRUSTOLIN; M G BURLIN et al. 2004. Clinical and biochemical study of 28 patients with mucopolysaccharidose type vi. Clinical genetics. 66, (3) 208-213.
  255. Life Sciences Genetics
    D R BEROLA; A C PEREIRA; P S OLIVEIRA; Chong Ae KIM; J E KRIEGER. 2004. Clinical variability in a noonan syndrome family with a new ptpn11 gene mutation. American journal of medical genetics. part a. Nov 1, (130A) 378-383.
  256. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; V H KOCH; E A FURUSAWA; C LEONE; Chong Ae KIM. 2004. Renal and urinary findings in 20 patients with williams-beuren syndrome diagnosed by fluorescence in situ hybridization (fish). Clinics (usp. impresso). 59, (5) 266-272.
  257. Life Sciences Neuroscience (miscellaneous)
    M VALENTE; K D VALENTE; S M SUGAYAMA; Chong Ae KIM. 2004. Malformation of cortical and vascular developmen in one family with parietal foramina determined by an alx4 homeobox gene mutation. American journal of neuroradiology. Estados Unidos. 25, (10) 1836-1839.
  258. Health Sciences Genetics (clinical)
    Debora Romeo BERTOLA; L M J ALBANO; Chong Ae KIM. 2004. Síndromes genéticas e cardiopatia. Revista da sociedade de cardiologia do estado de são paulo. 14, (3) 418-426.
  259. Social Sciences & Humanities Psychology (miscellaneous)
    S M SUGAYAMA; C LEONE; Chong Ae KIM. 2004. Síndrome de williams-beuren: proposta de sistema de pontuação para diagnóstico clínico. Revista paulista de pediatria (impresso). 22, 137-145.
  260. Health Sciences Neurology (clinical)
    D R BERTOLA; J D A CARNEIRO; E A D AMICO; Chong Ae KIM; L M J ALBANO et al. 2003. Hematological findings in noonan syndrome. Clinics (usp. impresso). 58, (1) 5-8.
  261. Health Sciences Psychiatry and Mental Health
    L RIBEIRO; C J ABE; A C PASTORINO; Chong Ae KIM; A B F FOMIN et al. 2003. Avaliação dos fatores associados a infecções recorrentes e/ou graves em pacientes com síndrome de down. Jornal de pediatria. 79, 141-148.
  262. Health Sciences Medicine (miscellaneous)
    L B PAIM; B L LIPHAUS; L M M A CAMPOS; Chong Ae KIM; M H B KISS et al. 2003. Fibrodisplasia ossificante progressiva (fop) em crianças: relato de três casos. Revista brasileira de reumatologia. 43, (2) 123-128.
  263. Health Sciences Neurology (clinical)
    S P ROBERTSON; S R F TWIGG; A J Sutherland SMITH; V BIANCALANA; R J GORLIN et al. 2003. Localized mutations in the gene encoding the cytoskeletal protein filamin a cause diverse malformations in humans. Nature genetics. 33, 487-491.
  264. Health Sciences Medicine (miscellaneous)
    J MAGRÉ; M DELÉPINE; L V MALDERGEM; J A MAASSEN; M MEIER et al. 2003. Prevalence of mutations in agpat2 among human lipodystrophies. Diabetes (new york; n.y.). 52, 1573-1578.
  265. Life Sciences Neuroscience (miscellaneous)
    K D VALENTE; A FREITAS; L A FIORE; Chong Ae KIM. 2003. A study of eeg and epilepsy profile in wolf-hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. Brain & development (tokyo. 1979). 25, (4) 283-287.
  266. Health Sciences Genetics (clinical)
    A C PEREIRA; R F R CORREA; G F A MOTA; Chong Ae KIM; S F MESQUITA et al. 2003. High specificity pcr screening for 22q11.2 microdeletion in three different ethnic groups. Brazilian journal of medical and biological research (impresso). 36, 1359-1365.
  267. Health Sciences Genetics (clinical)
    I V SCHWARTZ; L VEDOLIN; A PUGA; L PINTO; R BOY et al. 2003. Cerebral involvement in mucopolysaccharidosisii:correlation between brain magnetic resonance findings and clinical manifestations. Am j hum genet. Estados Unidos. 73, (5) 450-450.
  268. Health Sciences Genetics (clinical)
    Chong Ae KIM; A C PAULA; D R BEROLA; L TOMA; R GIUGLIANI et al. 2003. Clinical study of 10 brazilian cases of mucopolysaccharidosis vi. Am j hum genet. Estados Unidos. 73, (5) 452-452.
  269. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; R L MOISÉS; J WAGENFUR; N M IKARI; K T ABE et al. 2003. Williams-beuren syndrome.cardiovascular abnormalities in 20 patients dignosed with fluorescence in situ hybridization. Arquivos brasileiros de cardiologia. 81, (5) 468-473.
  270. Health Sciences Genetics (clinical)
    S M M SUGAYAMA; C A ANDRADE; C LEONE; M F BARBA; M VALENTE et al. 2002. Anomalias músculo-esqueléticas na síndrome de williams-beuren. descrição de 20 crianças e adolescentes utilizando-se o teste de hibridização in situ por fluorescência (fish). Revista brasileira de reumatologia. 42, (4) 223-230.
  271. Health Sciences Neurology (clinical)
    L M J ALBANO; S A D NISHIOKA; R L MOYSÉS; J WAGENFUHR; D R BEROLA et al. 2002. Friedreich´s ataxia. cardiac evaluation of 25 patients with clinical diagnosis and literature review. Arquivos brasileiros de cardiologia (impresso). 78, (5) 448-451.
  272. Social Sciences & Humanities Psychology (miscellaneous)
    S M MSUGAYAMA; L C F SÁ; K T ABE; C LEONE; M L L F CHAUFFAILLE et al. 2002. Anormalidades oculares em 20 pacientes com síndrome de williams-beuren. Pediatria (usp). 24, (3/4) 98-104.
  273. Health Sciences Genetics (clinical)
    M E J R CECCON; M S GRASSI; E M A DINIZ; V L J KREBS; Chong Ae KIM et al. 2002. Hemangioendotelioma hepático associado à galactosemia em um recém-nascido: relato de caso. Pediatria (usp). 24, (3/4) 132-136.
  274. Life Sciences Genetics
    S ANTONINI; Chong Ae KIM; S M M SUGAYAMA; A M Vianna MORGANTE. 2002. Delimitation of duplicatedsegments and identification of their parental origin in two partial chromosome3p duplications. American journal of medical genetics. part a. 113, 144-150.
  275. Health Sciences Genetics (clinical)
    A L A CUNHA; M H HIRATA; Chong Ae KIM; E M Guerra SHINOHARA; K NONOYAMA et al. 2002. Metabolic effects of c677t and a1298c mutations at the mthfr gene in brazilian children with neural tube defects. Clinica chimica acta. Estados Unidos. 318, (1-2) 139-143.
  276. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM. 2001. Rubella vaccination of unknowingly pregnant women: the são paulo experience 2001. The journal of infectious diseases. Sep 1, S737-44.
  277. Life Sciences Genetics
    Evandro Roberto BALDACCI; Rosemary J M AMORIM; Gisélia A P SILVA; Marília C LIMA; Rackel H R ELEUTÉRIO et al. 2001. O papel da proteína c reativa no tratamento das doenças infecciosas. Pediatria (são paulo). 23, 207-.
  278. Health Sciences Neurology (clinical)
    D R BERTOLA; Chong Ae KIM; A C PEREIRA; G F A MOTA; J E KRIEGER et al. 2001. Are noonan sydrome and noonan -like multiple giant cell lesion syndrome distinct entilies?. American journal of medical genetics. 98, 230-234.
  279. Life Sciences Neurology
    L M J ALBANO; Chong Ae KIM. 2001. Análise clínica e molecular da ataxia de friedreich: revisão da literatura. Pediatria (são paulo). 23, (3) 241-250.
  280. Life Sciences Genetics
    L A MAVROGIANNIS; L ANTONOPOULOU; A BAXOVÁ; S KUTILEK; Chong Ae KIM et al. 2001. Haploinsufficiency of the human homeobox gene alx4 causes skull ossification defects. Nature genetics. 27, (1) 17-18.
  281. Life Sciences Neuroscience (miscellaneous)
    Y GONG; Roger B SLEE; N FUKAI; G RAWADI; S Roman ROMAN et al. 2001. Ldl receptor-related protein 5(lrp5) affects bone accrual and eye development. Cell (cambridge). 107, (107) 513-523.
  282. Life Sciences Genetics
    L M J ALBANO; M ZATZ; Chong Ae KIM; D R BERTOLA; Maria Joaquina Marques DIAS et al. 2001. Friedreich's ataxia: clinical and molecular study of 25 brazilian patients. Clinics (usp. impresso). 56, (5) 143-148.
  283. Life Sciences Neurology
    S M M SUGAYAMA; L SÁ; D R BERTOLA; L M J ALBANO; P Gerritsen PLAGGERT et al. 2000. Ocular anomalies in 22 brazilian patients with williams-beuren syndrome. American journal of human genetics. Estados Unidos. 67, (4) 123-.
  284. Life Sciences Neurology
    D R BERTOLA; Chong Ae KIM; A PEREIRA; G MOTA; J KRIEGER et al. 2000. Noonan-like/multiple giant cell lesion syndrome: a separate entity from noonan syndrome?. American journal of human genetics. Estados Unidos. 67, (4) 118-.
  285. Life Sciences Genetics
    L A MAVROGIANNIS; A BAXOVA; S KUTILEK; Chong Ae KIM; S M M SUGAYAMA et al. 2000. Mutations of the homeobox gene alx4 in parietal foramina and cranium bifidum: a component of defect 11 syndrome. American journal of human genetics. Estados Unidos. 67, (4) 40-.
  286. Life Sciences Genetics
    L M J ALBANO; S M M SYGAYAMA; Debora Romeo BERTOLA; C E F ANDRADE; C Y UTAGAWA et al. 2000. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Clinics (usp. impresso). 55, 213-218.
  287. Health Sciences Medicine (miscellaneous)
    Joaquim J Gama RODRIGUES; José Hyppolito Da SILVA; Adilson A AISAKA; Ricardo JUREIDINI; Renato Falci JÚNIOR et al. 2000. Intestinal intussusception and occlusion caused by small bowel polyps in the peutz-jeghers syndrome. management by combined intraoperative enteroscopy and resection through minimal enterostomy: case report. Clinics (usp. impresso). 55, 219-224.
  288. Life Sciences Neurology
    D R BERTOLA; Chong Ae KIM; S M M SUGAYAMA; C Y UTAGAWA; C H GONZALEZ. 2000. Further delineation of char syndrome. Pediatrics international. 42, 85-88.
  289. Life Sciences Genetics
    D R BERTOLA; Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; C Y UTAGAWA et al. 2000. Aec syndrome and chand syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. Pediatric dermatology. Estados Unidos. 17, 218-221.
  290. Life Sciences Neurology
    F R VARGAS; L Schuller FACCINI; D BRUNONI; Chong Ae KIM; V F A MELONI et al. 2000. Prenatal expusure to misoprostol and vascular disruption defects: a case-control study. American journal of medical genetics. part a. 95, 302-306.
  291. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM; M F BARBA; L M J ALBANO; D R BERTOLA et al. 2000. Síndrome de edwards com aplasia radial - relato de dois casos e revisão das anomalias esqueléticas na síndrome. Boletim do colégio brasileiro de radiologia. 33, 241-247.
  292. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM; K T ABE; L M J ALBANO; D R BERTOLA et al. 2000. Uso da análise de fish para diagnóstico em 11 pacientes brasileiros com síndrome de williams-beuren. Jornal brasileiro de patologia clínica. Brasil. 36, (4) 263-266.
  293. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM; M K INOUE; C UTAGAWA; D R BERTOLA et al. 2000. Importância do cianeto-nitroprussiato como teste de triagem para o diagnóstico presuntivo da homocistinúria. Jornal brasileiro de patologia clínica. 36, (3) 157-160.
  294. Health Sciences Genetics (clinical)
    A L F BENARDINO; A FERRI; M R Passos BUENO; Chong Ae KIM; C A M NAKAIE et al. 2000. Molecular analysis in brazilian cystic fibrosis patients reveals five novel mutations. Genetic testing. Estados Unidos. 4, 69-74.
  295. Life Sciences Genetics
    S M SUGAYAMA; D R BERTOLA; L M J ALBANO; A MANISSADJIAN; E Auler BITENCOURT et al. 2000. Síndrome de pallister-killian ou tetrassomia do braço curto do cromossomo 12 em mosaico: relato de dois casos diagnosticados pela hibridização in situ por fluoresceína (fish). Pediatria (são paulo). 22, (3) 255-263.
  296. Health Sciences Medicine (miscellaneous)
    D R BERTOLA; Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; J WAGENFÜR et al. 2000. Cardiac findings in 31 patients with noonan's syndrome. Arquivos brasileiros de cardiologia (impresso). 75, (5) 409-412.
  297. Health Sciences Neurology (clinical)
    Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; C E ANDRADE; T C Lyra NETO et al. 2000. Iris coloboma with ptosis; hypertelorism; and mental retardation: report of six brazilian patients. American journal of human genetics. Estados Unidos. 67, (4) 128-.
  298. Life Sciences Neurology
    Chong Ae KIM; M R Passo BUENO; S K MARIE; A CERQUEIRA; U CONTI et al. 1999. Clinical and molecular analysis of spinal muscular atrophy in brazilian patients. Genetics and molecular biology. 22, 487-492.
  299. Health Sciences Genetics (clinical)
    C Y UTAGAWA; Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; D R BERTOLA; E R BABA et al. 1999. Infantile sialic acid storage disease: report of the first case in south american. Clinical genetics. 55, 386-387.
  300. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM; M K INOUE; C Y UTAGAWA; D R BERTOLA et al. 1999. Importance of cyanide - nitroprucide test for the diagnosis of hemocystinuria. International proceedings division. Itália. 293-296.
  301. Life Sciences Neurology
    S M M SUGAYAMA; Chong Ae KIM; K A TERADA; L M J ALBANO; D R BERTOLA et al. 1999. Use of fish analysis to diagnostic approach of 11 brazilian patients with williams-beurens sydrome. International proceeding division. Itália. 57-60.
  302. Health Sciences Speech and Hearing
    S M M SUGAYAMA; M F BARBA; M M SARMENTO; D R BERTOLA; L M J ALBANO et al. 1999. Displasia cleidocraniana: relato de caso e revisão da literatura. Radiologia brasileira. 32, 75-79.
  303. Life Sciences Genetics
    S M M SUGAYAMA; Chong Ae KIM; C Y UTAGAWA; L M J ALBANO; D R BERTOLA et al. 1999. Estudo genético-clínico de 20 pacientes com trissomia 13 (síndrome de patau). Pediatria (são paulo). 21, 21-29.
  304. Life Sciences Genetics
    S M M SUGAYAMA; Chong Ae KIM; C Y UTAGAWA; L M J ALBANO; D R BERTOLA et al. 1999. Estudo genético-clínico de 24 pacientes com trissomia 18 (síndrome de edwards). Pediatria (são paulo). 21, 133-143.
  305. Health Sciences Cardiology and Cardiovascular Medicine
    L M J ALBANO; Chong Ae KIM; V K LEE; S M SUGAYAMA; M F BARBA et al. 1999. Clinical and radiological aspects in melnick-needles syndrome. Clinics (usp. impresso). 54, 69-72.
  306. Life Sciences Genetics
    J MARCELINO; J D CARPTEM; W M SUWAIRI; O M GUTIERREZ; S SCHWARTZ et al. 1999. Cacp; encoding a secreted proteoglycan; is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome [letter]. Nature genetics. Estados Unidos. 23, 319-322.
  307. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM. 1999. Acerca das anormalidades cromossômicas. [editorial]. Pediatria (são paulo). 21, 9-.
  308. Life Sciences Genetics
    S M M SUGAYAMA; Chong Ae KIM; C R LEONE; E M A DINIZ; C P KOIFFMANN et al. 1999. História natural de 24 pacientes com trissomia 18 (síndrome de edwards) e de 20 pacientes com trissomia 13 (síndrome de patau). Pediatria (são paulo). 21, 69-77.
  309. Life Sciences Genetics
    M C VARELA; C FRIDMAN; T E MATSUMOTO; Chong Ae KIM; F KOK et al. 1999. A clinical; cytogenetic and molecular study of the brazilian patients with supernumerary inv dup (15) marker chromossomes. American journal of human genetics. Estados Unidos. 65, (4) 347-.
  310. Life Sciences Genetics
    D R BERTOLA; Chong Ae KIM; S M M SUGAYAMA; L M J ALBANO; C H GONZALEZ. 1999. Noonan syndrome: a clinical and genetic study of 31 patients. Clinics (usp. impresso). 54, 147-150.
  311. Health Sciences Pediatrics, Perinatology and Child Health
    C H GONZALEZ; M J Marques DIAS; Chong Ae KIM; S M M SUGAYAMA; J A PAZ et al. 1998. Congenital abnormalities in brazilian children associated with misoprostol misuse in the first trimester of pregnancy. Lancet. Estados Unidos. 351, 1624-1627.
  312. Life Sciences Animal Science and Zoology
    A S DORIA; M TORRE; M F BARBA; S M M SUGAYAMA; Chong Ae KIM et al. 1998. Gemelaridade conjugada incompleta com duplicação caudal (dípigo) - revisão e investigação emegenologica de um caso extremamente raro. Pediatria (são paulo). 20, 55-60.
  313. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; C Y UTAGAWA; L M J ALBANO; D R BERTOLA; C E F ANDRADE et al. 1998. Síndrome unha-patela: estudo de duas famílias e revisão de literatura. Acta ortopédica brasileira. 6, 61-66.
  314. Health Sciences Medicine (miscellaneous)
    E A FURUSAWA; V H KOCH; Chong Ae KIM; M FUJIMURA; B SALDANHA et al. 1997. Síndrome hemolítico-urêmica atípica na criança. Jornal brasileiro de nefrologia. 19, (3) 280-284.
  315. Health Sciences Neurology (clinical)
    M C FALCÃO; L M BRESOLIN; C E ANDRADE; Chong Ae KIM; C R LEONE. 1997. Sequência da displasia septo-óptica: descrição de caso. Pediatria (usp). 19, (4) 288-292.
  316. Life Sciences Genetics
    C Y UTAGAWA; Chong Ae KIM; S M M SUGAYAMA; M F BARBA; C E F ANDRADE et al. 1997. Hadju-cheney syndrome: a case report of the first brazilian patient. American journal of human genetics. Estados Unidos. 61, (4) 371-.
  317. Health Sciences Neurology (clinical)
    L M J ALBANO; Chong Ae KIM; S M M SUGAYAMA; C Y UTAGAWA; C E F ANDRADE et al. 1997. Melnick-needles syndrome:report of the first brazilian case with mother-daughter transmission and literature review. American journal of human genetics. Estados Unidos. 61, (4) 367-.
  318. Health Sciences Medicine (miscellaneous)
    E M RIBEIRO; S M M SUGAYAMA; C Y UTAGAWA; Chong Ae KIM; C R LEONE et al. 1997. Malformações congênitas em filhos de mães diabéticas: relato de casos. Pediatria (são paulo). 19, 65-75.
  319. Social Sciences & Humanities Psychology (miscellaneous)
    C Y UTAGAWA; S M M SUGAYAMA; Chong Ae KIM; L SADECK; C R LEONE et al. 1997. Efeitos do uso materno de warfarin no feto. relato de caso. Pediatria (são paulo). 19, 293-297.
  320. Social Sciences & Humanities Linguistics and Language
    M I MELARAGNO; C H GONZALEZ; D BRUNONI; Chong Ae KIM. 1996. Deletion 9p and duplication 17p due to a translocation t (9-17) (p23- p13)pat. Genetics and molecular biology (impresso). 19, 493-496.
  321. Social Sciences & Humanities Education
    S M M SUGAWAMA; Chong Ae KIM; C H GONZALEZ. 1996. Associação charge. Pediatria (são paulo). 18, 108-111.
  322. Social Sciences & Humanities Psychology (miscellaneous)
    C Y UTAGAWA; S M M SUGAWAMA; E M RIBEIRO; Chong Ae KIM; C H GONZALEZ. 1996. Picnodisostose: apresentação de três casos e revisão. Acta oncologica brasileira. 4, 47-52.
  323. Life Sciences Neuroscience (miscellaneous)
    C Y UTAGAWA; S M M SUGAYAMA; J D A CARNEIRO; M B G COSTA; M E I PETLIK et al. 1996. Anomalia de pelger-huet ou hipossegmentação de leucócitos. relato de quatro casos. Pediatria (são paulo). 18, 210-213.
  324. Health Sciences Public Health, Environmental and Occupational Health
    M S SHIMODA; S M M SUGAYAMA; Chong Ae KIM; M EBAID. 1996. Orientação familiar preventiva: aspectos genéticos das doenças cardiovasculares e perspectivas futuras. Revista soc cardiol. 6, 623-627.
  325. Health Sciences Neurology (clinical)
    M F BARBA; A S DORIA; M TORRE; Ednaldo Kazuyuki NAKANO; Chong Ae KIM et al. 1995. Osteopetrose - relato de dois casos e diagnóstico por imagem. Pediatria (usp). 17, 60-63.
  326. Health Sciences Neurology (clinical)
    Chong Ae KIM; C P KOIFFMAN; C H GONZALEZ; A M Morgante VIANNA; Vicente Odone FILHO et al. 1995. Neuroblastoma in a boy with mca/mr sydrome; deletion 11q; and duplication 12q. American journal of medical genetics. part a. 58, 46-48.
  327. Social Sciences & Humanities Psychology (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM; C H GONZALEZ. 1995. Síndrome de williams. Pediatria (são paulo). 17, 105-106.
  328. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; E M RIBEIRO; S M M SUGAWAMA; C H GONZALEZ. 1995. Síndrome alcoólica fetal: relato de três irmãos afetados. Pediatria (são paulo). 17, 91-94.
  329. Health Sciences Medicine (miscellaneous)
    M F BARBA; Fernando VITULE; Gilberto C GOMES; L S R SADECK; Valdenice L M Tuma CALIL et al. 1994. Malformação de coluna em criança com mãe portadora de diabetes mellitus: diagnóstico por imagem. Radiologia brasileira. 27, 235-238.
  330. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; Sofia Mizuko Miura SUGAYAMA; E M RIBEIRO; C H GONZALEZ. 1994. Síndrome de robinow. Pediatria (usp). 16, 190-193.
  331. Health Sciences Medicine (miscellaneous)
    Maria Ester R J CECCON; E M A DINIZ; R FEFERBAUM; V L J KREBS; Chong Ae KIM et al. 1994. Ictiose congênita. Pediatria (são paulo). Brasil. 16, 113-119.
  332. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM. 1993. Osteogênese imperfeita-revisão. Pediatria (sãopaulo). Brasil. 15, (1) 8-21.
  333. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; C H GONZALEZ. 1993. Síndrome de noonan. Pediatria (usp). 15, 56-59.
  334. Health Sciences Medicine (miscellaneous)
    C H GONZALEZ; F R VARGAS; Perez A B A; Chong Ae KIM; D BRUNONI et al. 1993. Limb deficiency with or without mobius sequence in seven brazilian children associated with misoprostol use in the first trimester of pregnancy. American journal of medical genetics. part a. 47, 59-64.
  335. Life Sciences Genetics
    C P KOIFFMAN; C H GONZALEZ; D H SOUZA; Eliana G ROMANI; Chong Ae KIM et al. 1991. Is shwachman syndrome (mckusick 26040) a chromosome breakage syndrome?. Human genetics. 87, 106-107.
  336. Health Sciences Neurology (clinical)
    Chong Ae KIM; L S R SADECK; C R LEONE; J L A RAMOS; C H GONZALEZ et al. 1985. Síndrome de regressão caudal (src) em filho de mãe diabética pós-pancreatectomia. Jornal de pediatria. 58, 211-.
  337. Health Sciences General Medicine
    C H GONZALEZ; L S R SADECK; Chong Ae KIM; C R LEONE; J L A RAMOS et al. 1985. Letter do the editor: caudal ¨regression" anomaly in a boy born to a pancratectomized mother. American journal of medical genetics. 21, 205-209.
  1. Social Sciences & Humanities Psychology (miscellaneous)
    Abruno De Oliveira STEPHAN; Chong Ae KIM. 2022. Guia prático de testes genéticos. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-genética médica. Brasil.
  2. Social Sciences & Humanities Psychology (miscellaneous)
    Debora E Silva De LAZARI; Chong Ae KIM. 2022. Anamnese e exame físico. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-genética médica. Brasil.
  3. Social Sciences & Humanities General Social Sciences
    Albano Lilian Maria JOSÉ; Chong Ae KIM. 2022. Síndrome de cornelia de lange. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo- genética médica. Brasil.
  4. Social Sciences & Humanities Psychology (miscellaneous)
    Albano Lilian Maria JOSÉ; Chong Ae KIM. 2022. Cri-du-chat ou miado de gato ou monossomia parcial do braço curto do cromossomo 5. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-genética médica. Brasil.
  5. Health Sciences Public Health, Environmental and Occupational Health
    Samantha Vernaschi KELMANN; Chong Ae KIM. 2022. Epidermólise bolhosa. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-genética médica. Brasil.
  6. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Kelmann Samantha VERNASCHI. 2022. Doença de fabry. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-genética médica. Brasil.
  7. Life Sciences Genetics
    Chong Ae KIM; Bertola Debora R; Kulikowski Leslie D; Piazzon Flavia B; Kawahira Rachel Sayuri HONJO. 2022. Principais síndromes genéticas associadas a transtornos psiquiátricos na infância e na adolescência. In: Tratado de psiquiatria da infância e da adolescência. Brasil.
  8. Health Sciences Genetics (clinical)
    Bertola Debora R; Rachel S H KAWAHIRA; Lilian M J ALBANO; Chong Ae KIM. 2022. Síndromes genéticas e cardiopatias. In: Tratado de cardiologia socesp. Brasil.
  9. Social Sciences & Humanities Psychology (miscellaneous)
    Luis Carlos Ferreira De SÁ; Chong Ae KIM. 2022. Hand defects and the eye ( chap 103). In: Taylor & hoyt´s pediatric ophthalmology abd strabismus. Inglaterra.
  10. Health Sciences Neurology (clinical)
    Chong Ae KIM; Caio Robledo Dángioli Costa QUAIO; Diogo Coredeiro De Queiroz SOARES. 2021. Abordagem prática do paciente com malformação congênita. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-pediatria. Brasil.
  11. Life Sciences Genetics
    Chong Ae KIM; Quaio Caio Robledo D Angioli COSTA; Diogo Cordeiro De Queiroz SOARES. 2021. Principais síndromes de origem genética. In: Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo-pediatria. Brasil.
  12. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR. 2019. Distúrbios genéticos e pediatra. In: Distúrbios genéticos e pediatra. Brasil.
  13. Life Sciences Genetics
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR. 2019. Avaliação genética. In: Avaliação genética. Brasil.
  14. Social Sciences & Humanities Education
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR. 2019. Aconselhamento genético. In: Aconselhamento genético. Brasil.
  15. Social Sciences & Humanities Language and Linguistics
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R. 2019. Anomalias da morfogênese. In: Anomalias da morfogênese. Brasil.
  16. Health Sciences Genetics (clinical)
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR. 2019. Classificação das doenças genéticas. In: Classificação das doenças genéticas. Brasil.
  17. Social Sciences & Humanities Social Sciences (miscellaneous)
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR. 2019. Alterações faciais importantes. In: Alterações faciais importantes. Brasil.
  18. Health Sciences Medicine (miscellaneous)
    Rachel S H KAWAHIRA; Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Diogo C Q SOARES. 2019. Cardiopatias sindrômicas. In: Cardiopatias sindrômicas. Brasil.
  19. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Pedro Henrique Santana CASTRO. 2019. Aberrações dos cromossomos sexuais. In: Aberrações dos cromossomos sexuais. Brasil.
  20. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Quaio CR. 2019. Alterações da pele e do tecido conectivo. In: Alterações da pele e do tecido conectivo. Brasil.
  21. Health Sciences Psychiatry and Mental Health
    Chong Ae KIM; Bertola Debora R; Kulikowski Leslie D; Piazzon Flavia BALBO. 2018. Principais síndromes genéticas associadas a transtornos psiquiátricos na infância e na adolescência. In: Tratado de psiquiatria da infância e da adolescência. Brasil.
  22. Health Sciences Pediatrics, Perinatology and Child Health
    Luis Carlos Ferreira De SÁ; Chong Ae KIM. 2017. Hand defects and the eye. In: Taylor & hoyt´s pediatric ophthalmology and strabismus. Canadá.
  23. Life Sciences Genetics
    Chong Ae KIM. 2017. Deleção do braço curto do cromossomo 5. In: Compêndio de doenças raras. Brasil.
  24. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM; Albano Lilian Maria JOSÉ. 2017. Charge. In: Compêndio de doenças raras. Brasil.
  25. Life Sciences Genetics
    Chong Ae KIM; Honjo Rachel SAYURI. 2017. Síndrome de williams. In: Compêndio de doenças raras. Brasil.
  26. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Bertola Débora R; Albano Lilian Maria JOSÉ. 2017. Displasias esqueléticas. In: Tratado de radiologia. Brasil.
  27. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Albano Lilian Maria JOSÉ; Honjo Rachel SAYURI. 2017. Principais doenças genéticas com envolvimento do aparelho auditivo. In: Xv manual de otorrinolaringologia pediátrica da iapo. Brasil.
  28. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM; Lilian M J ALBANO; Honjo Rachel SAYURI. 2016. Main genetic disorders involving the ear. In: Xv iapo manual of pediatric otorhinolaryngology. Brasil.
  29. Health Sciences Genetics (clinical)
    Caio Robledo QUAIO; Chong Ae KIM. 2014. Genética médica. In: Como escolher a sua residência médica. Brasil.
  30. Health Sciences Psychiatry and Mental Health
    Chong Ae KIM; Bertola Débora R; Leslie Domenici KULIKOWSKI; Flavia Balbo PIAZZON. 2013. Principais síndromes genéticas associadas a transtornos psiquiátricos na infância e na adolescência. In: Tratado de psiquiatria da infância e da adolescência. Brasil.
  31. Health Sciences Medicine (miscellaneous)
    C QUAIO; Chong Ae KIM; Debora Romeo BERTOLA. 2013. Abordagem genético-clínico na síndrome de down. In: A promoção da saúde na infância. Brasil.
  32. Social Sciences & Humanities Education
    Marília Borges MOREIRA; Chong Ae KIM. 2013. Aneuploidias constitucionais e adquiridas. In: Citogenômica aplicada à prática médica. Brasil.
  33. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Israel GOMY; Debora Romeo BERTOLA. 2012. Displasias esqueléticas. In: Diagnóstico por imagem. Brasil.
  34. Health Sciences Psychiatry and Mental Health
    Chong Ae KIM; D R BERTOLA; Leslie Domenioci KULIKOWSKI; F PIAZZON. 2012. Principais síndromes genéticas associadas a transtornos psiquiátricos na infância e na adolescência. In: Tratado de psiquiatria da infância e da adolescência. Brasil.
  35. Health Sciences Genetics (clinical)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Síndromes genéticas associadas à obesidade. In: Tratado de obesidade. Brasil.
  36. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Distúrbios genéticos e o pediatra. In: Genética na prática pediátrica. Brasil.
  37. Life Sciences Genetics
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Avaliação genética. In: Genética na prática pediátrica. Brasil.
  38. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Aconselhamento genético. In: Genética na prática pediátrica. Brasil.
  39. Life Sciences Developmental Biology
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Anomalias da morfogênese. In: Genética na prática pediátrica. Brasil.
  40. Health Sciences Genetics (clinical)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Classificação das doenças genéticas. In: Genética na prática pediátrica. Brasil.
  41. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Alterações faciais importantes. In: Genética na prática pediátrica. Brasil.
  42. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Cardiopatias sindrômicas. In: Genética na prática pediátrica. Brasil.
  43. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Alterações dos cromossomos sexuais. In: Genética na prática pediátrica. Brasil.
  44. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Alterações da pele e do tecido conectivo. In: Gnética na prática pediátrica. Brasil.
  45. Health Sciences Psychiatry and Mental Health
    Rachel Sayuri HONJO; Isabel Mosca FURQUIM; Chong Ae KIM; L M J ALBANO. 2010. Síndromes com crescimento acelerado. In: Genética na prática pediátrica. Brasil.
  46. Social Sciences & Humanities General Social Sciences
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Déficit do crescimento. In: Genética na prática pediátrica. Brasil.
  47. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Síndromes do obesidade. In: Genética na prática pediátrica. Brasil.
  48. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Alterações do esqueleto. In: Genética na prática pediátrica. Brasil.
  49. Health Sciences Geriatrics and Gerontology
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2010. Envelhecimento precoce. In: Genética na prática pediátrica. Brasil.
  50. Health Sciences Medicine (miscellaneous)
    Rachel Sayuri HONJO; Isabel Mosca FURQUIM; Chong Ae KIM; L M J ALBANO. 2010. Síndromes com risco aumentado de desenvolvimento de tumores. In: Genética na prática pediátrica. Brasil.
  51. Health Sciences Medicine (miscellaneous)
    Ana Carolina PAULA; Chong Ae KIM; L M J ALBANO. 2010. Doenças de depósito lisossômico. In: Genética na prática pediátrica. Brasil.
  52. Health Sciences Medicine (miscellaneous)
    Camila Rebelo NICOLAU; Chong Ae KIM; Debora Romeo BERTOLA. 2010. Teratógenos. In: Genética na prática pediátrica. Brasil.
  53. Life Sciences Genetics
    Chong Ae KIM; L M J ALBANO; D R BERTOLA. 2008. Baixa estatura por aberrações cromossômicas; doenças gênicas e displasias esqueléticas. In: Diagnóstico diferencial em pediatria. Brasil.
  54. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA; M F BARBA. 2008. Doenças genéticas em pediatria. In: Atlas de imaginologia pediátrica. Brasil.
  55. Health Sciences Genetics (clinical)
    Debora Romeo BERTOLA; L M J ALBANO; Chong Ae KIM. 2008. Síndromes genéticas e cardiopatia. In: Bases moleculares das doenças cardiovasculares. Brasil.
  56. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA. 2007. Síndromes associadas à obesidade. In: Obesidade na criança e no adolescente. Brasil.
  57. Health Sciences Medicine (miscellaneous)
    D R BERTOLA; L M J ALBANO; Chong Ae KIM. 2005. Síndromes genéticas e cardiopatias. In: Tratado de cardiologia. Brasil.
  58. Health Sciences Neurology (clinical)
    Chong Ae KIM; Denise DERANI. 2004. Abordagem prática do paciente com malformação congênita. In: Manual do residente de pediatria. Brasil.
  59. Social Sciences & Humanities Education
    Chong Ae KIM; Denise DERANI. 2004. Aconselhamento genético. In: Manual do médico residente de pediatria. Brasil.
  60. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; S M M SUGAYAMA. 2002. Doenças de herança multifatorial. In: Pediatria básica. Brasil.
  61. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; S M SUGAYAMA. 2002. Padrões não clássicos de herança monogênica. In: Pediatria básica. Brasil.
  62. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; S M M SUGAYAMA. 2002. Anormalidades cromossômicas. In: Endocrinologia pediátrica - aspectos físicos metabólicos do recém-nascidos ao adolescente. Brasil.
  63. Life Sciences Genetics
    Chong Ae KIM; S M M SUGAYAMA. 2002. Noções básicas de genética. In: Endocrinologia pediátrica - aspectos físicos e metabólicos do recém-nascido ao adolescente. Brasil.
  64. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; D R BERTOLA; S M SUGAYAMA. 2002. Doenças monogênicas ou mendelianas. In: Endocrinologia pediátrica - aspectos físicos e metabólicos do recém-nascido. Brasil.
  65. Social Sciences & Humanities Education
    Chong Ae KIM; S M SUGAYAMA. 2002. Aconselhamento genético. In: Endocrinologia pediátrica - aspectos físicos e metabólicos do recém-nascido ao adolescente. Brasil.
  66. Life Sciences Genetics
    Chong Ae KIM; G J F GATTÁS. 2002. Genética molecular. In: Endocrinologia pediátrica - aspectos físicos e metabólicos do recém-nascido ao adolescente. Brasil.
  67. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; Chong Ae KIM. 2001. Anomalias autossômicas. In: Doenças genética em pediaria. Brasil.
  68. Life Sciences Neuroscience (miscellaneous)
    Chong Ae KIM. 2001. Amiotrofias espinhais progressivas. In: Doenças genéticas em pediatria. Brasil.
  69. Life Sciences Neurology
    L M J ALBANO; Chong Ae KIM. 2001. Ataxia de friedreich: aspectos clínicos e moleculares. In: Doenças genéticas em pediatria. Brasil.
  70. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; F GALLERA. 2001. Displasias esqueléticas. In: Doenças genéticas em pediatria. Brasil.
  71. Health Sciences Pediatrics, Perinatology and Child Health
    Chong Ae KIM; J G BORRELL. 1996. Assitência nas malformações congênitas do recém-nascido. In: Assistência integrada ao recém-nascido. Brasil.
  1. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Bertola D R; Albano Lilian Maria JOSÉ; Rachel Sayuri Honjo KAWAHIRA. 2022. Série manual do médico-residente do hospital das clínicas da faculdade de medicina da universidade de são paulo- genética médica. Brasil.
  2. Health Sciences Genetics (clinical)
    Chong Ae KIM; Lilian M J ALBANO; Bertola Débora R. 2019. Genética na prática pediátrica. Brasil.
  3. Social Sciences & Humanities Psychology (miscellaneous)
    Solange De Freitas Branco LIMA; Maria Cristina Trigueiro Veloz TEIXEIRA; Luiz Renato Rodrigues CARREIRO; Mayra Fernanda Ferreira SERACENI; Chong Ae KIM et al. 2013. Manejo comportamental de crianças e adolescentes com síndrome de williams. guia para professores; pais e cuidadores. Brasil.
  4. Health Sciences Genetics (clinical)
    Chong Ae KIM; L M J ALBANO; D R BERTOLA. 2010. Genética na prática pediátrica. Brasil.