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Débora Romeo Bertola

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 Carla Gentile MATAS Ciências da Saúde Fonoaudiologia
3 Carmen Regla VARGAS Ciências da Saúde Medicina
4 Chong Ae KIM Ciências da Saúde Medicina
5 Claudia Da Costa LEITE Ciências da Saúde Medicina
6 Claudio LEONE Ciências da Saúde Medicina
7 Clovis Artur Almeida Da SILVA Ciências da Saúde Medicina
8 Dafne Dain Gandelman HOROVITZ Ciências da Saúde Medicina
9 Débora Maria Befi LOPES CpE Ciências da Saúde Fonoaudiologia
10 Decio BRUNONI Ciências Biológicas Genética
11 Elizete Aparecida LOMAZI Ciências da Saúde Medicina
12 Erasmo Barbante CASELLA Ciências da Saúde Medicina
13 Gilka Jorge Figaro GATTAS Ciências Biológicas Genética
14 Juan Clinton Llerena JUNIOR Ciências da Saúde Medicina
15 Kette Dualibi Ramos VALENTE Ciências Biológicas Fisiologia
16 Maria Cristina Triguero Veloz TEIXEIRA Ciências Humanas Psicologia
17 Paulo Alberto OTTO Ciências Biológicas Genética
18 Roberto GIUGLIANI CpE Ciências Biológicas Genética
19 Salmo RASKIN Ciências da Saúde Medicina
20 Suzana Nesi FRANÇA Ciências da Saúde Medicina
21 Thais Della MANNA Ciências da Saúde Medicina
22 Vânia D ALMEIDA CpE Ciências Biológicas Bioquímica
Figura 1. Número de publicações por ano e por tipo, considerando todas as publicações.
  1. Health Sciences Genetics (clinical)
    Yamamoto Guilherme L; Leticia ROCHA; José Ricardo CERONI; Rachel S HONJO; Edgard França BISNETO et al. 2019. Congenital limb deficiency: clinical and genetic evaluation of a cohort of 37 individuals. In: 14th isds meeting. Noruega.
  2. Health Sciences Neurology (clinical)
    Baratela Wagner A R; Yamamoto Guilherme LOPES; Larissa De Cassia TESTAI; Rachel S HONJO; Luiz A N OLIVEIRA et al. 2016. Next generation sequencing as a confirmatory diagnostic tool in a brazilian skeletal dysplasia tertiary center. In: 66º congresso da sociedade americana de genética humana. Estados Unidos.
  3. Health Sciences Genetics (clinical)
    Rachel S HONJO; José Ricardo CERONI; Maria Rita Dos Santos E Passos BUENO; Lopes Yamamoto GUILHERME; Chong A E KIM et al. 2016. Chime syndrome with pigl mutation: description of a brazilian case with mild elevation of alkaline phosphatase. In: 66º congresso da sociedade americana de genética humana. Estados Unidos.
  4. Health Sciences Genetics (clinical)
    Chong Ae KIM; Soares Diogo Cordeiro De QUEIROZ; Lílian Maria José ALBANO; Rachel S HONJO; Débora Romeo BERTOLA et al. 2016. Surgical procedures and anesthetic complications in 27 brazilian patients with mucopolysaccharidosis (mps) types i; ii and vi. In: 66º congresso da sociedade americana de genética humana. Estados Unidos.
  5. Life Sciences Neuroscience (miscellaneous)
    Malcher CAROLINA; Lopes Yamamoto GUILHERME; P BURNHAM; S A M EZQUINA; D S Marco ANTONIO et al. 2016. Development of a national nipt in brazil. In: 66º congresso da sociedade americana de genética humana. Estados Unidos.
  6. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Christine H CHUNG; Rachel S HONJO; Débora Romeo BERTOLA; Chong A E KIM. 2016. Clinical features of 28 patients with presumptive diagnosis of pik3ca-related overgrowth spectrum (pros) in a tertiary hospital in brazil. In: 66º congresso da sociedade americana de genética humana. Estados Unidos.
  7. Life Sciences Genetics
    Yamamoto Guilherme L; Malcher CAROLINA; Baratela Wagner A R; Rossana VIEIRA; Marcos Antonio LOPES et al. 2016. Next-generation sequencing approach in skeletal dysplasias with prenatal onset: experience of a tertiary center in brazil. In: 13º congresso internacional de genética humana. Japão.
  8. Health Sciences Neurology (clinical)
    Vaas AMARAL; Crdc QUAIO; Rl DUTRA; Rs HONJO; Ld KULLOWSKI et al. 2012. The evolution of stress in 40 molecularly-confirmed patients with williams-beuren syndrome. In: European human genetics conference 2012. Alemanha.
  9. Life Sciences Genetics
    Ti MANCINI; Mm OLIVEIRA; Ab PEREZ; Kim C A; Débora Romeo BERTOLA et al. 2012. Evaluation of genomic imbalances in apparently balnced rearrangements. In: European human genetics conference 2012. Alemanha.
  10. Health Sciences Neurology (clinical)
    Lc TORRES; Crdc QUAIO; Jfs FRANCO; I GOMY; Débora Romeo BERTOLA et al. 2012. Evaluation of the innate immunity in mucopolysaccharidosis: analysis of the functional activity of phagocytes. In: European human genetics conference 2012. Alemanha.
  11. Life Sciences Neuroscience (miscellaneous)
    Débora Romeo BERTOLA; Mg RODRIGUES; Crdc QUAIO; Ca KIM; M Passos BUENO. 2012. A novel heterozygous alx4 gene mutation in a familial case presenting parietal foramina and a mild frontonasal dysplasia phenotype. In: European human genetics conference 2012. Alemanha.
  12. Life Sciences Genetics
    G IZZO; El FREITAS; Acv KREPISHI; Débora Romeo BERTOLA; Mrs Passos BUENO et al. 2012. Microduplication in 5p15.33 clpmt1l and tert genes identified in a patient with cleft lip and palate; cardiopathy and urogenital abnormalities. In: American society of human genetics - annual meeting. Estados Unidos.
  13. Health Sciences Medicine (miscellaneous)
    C D ANGELO; I KOHL; C De CASTRO; A C KIM; Débora Romeo BERTOLA et al. 2012. Array-based copy-number analysis in patients associating obesity and developmental delay/learning disabilities and additional features. In: American society of human genetics - annual meeting. Estados Unidos.
  14. Health Sciences Neurology (clinical)
    Tf ALMEIDA; Dv BERNARDO; Crdc QUAIO; Gl YAMAMOTO; Edf CARVALHO et al. 2012. Patterns of genetic expression in mental retardation associated or not with microcephaly. In: American society of human genetics - annual meeting. Estados Unidos.
  15. Life Sciences Genetics
    Edf CARVALHO; M LAZAR; Tf ALMEIDA; Crdc QUAIO; Gl YAMAMOTO et al. 2012. Schinzel-gideon syndrome in two brazilian patients: report of a novel mutation in setbp1. In: American society of human genetics - annual meeting. Estados Unidos.
  16. Life Sciences Neuroscience (miscellaneous)
    Crdc QUAIO; As BRASIL; Ac PEREIRA; Ca KIM; Débora Romeo BERTOLA. 2012. Tegumentary manifestations in rasopathies are common and deserve special attention. In: American society of human genetics - annual meeting. Estados Unidos.
  17. Life Sciences Genetics
    War BARATELA; Tf ALMEIDA; Gl YAMAMOTO; Jh MARQUES; O LETAIF et al. 2012. Severe chst3 mutations in two brazilian families with spondiloepiphyseal dysplasia with congenital joint dislocations. In: American society of human genetics - annual meeting. Estados Unidos.
  18. Health Sciences Pediatrics, Perinatology and Child Health
    Gl YAMAMOTO; A BONALDI; Am Vianna MORGANTE; I GOMY; Ca KIM et al. 2012. External validation of the bartholdi clinical scoring system for silver-russell syndrome: a report of a brazilian cohort. In: American society of human genetics - annual meeting. Estados Unidos.
  19. Life Sciences Neurology
    Débora Romeo BERTOLA; Yamamoto GUILHERME; C A KIM; L A N OLIVEIRA; Gen NISHIMURA et al. 2011. Humeral - tibial - fibular hypoplasia with digital anomalies; wavy ribs and hypoacusis: confirmation of the teebi-al-awadi-opitz-spranger syndrome and exclusion of gdf5 as the causative gene. In: European human genetics conference. Holanda.
  20. Life Sciences Genetics
    Dutra ROBERTA; Rachel S HONJO; Fonseca FAM; Pieri PATRÍCIA; Débora Romeo BERTOLA et al. 2011. Microsatellite markers and multiplex ligation-dependent probe amplification (mlpa): diagnosis tests for williams-beuren syndrome. In: European human genetics conference. Holanda.
  21. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; Amanda Salem BRASIL; Jorge Alexsander Augusto De LIMA; Malaquias ALEXSANDRA; Wanderely LUCIANA et al. 2010. Cardiac findings in 61 noonan syndrome patients with proven mutation in genes of the ras/mapk signaling pathway. In: European human genetics conference 2010. Suécia.
  22. Life Sciences Neurology
    C A KIM; Assunção Júnior FB; Rachel S HONJO; Dutra ROBERTA; Amaral VAS et al. 2010. High frequency of autistic traits in williams-beuren patients. In: Euroepan human genetics conference 2010. Suécia.
  23. Life Sciences Genetics
    Furquim Isabel MOSCA; Honjo RACHEL; Lourenço CM; Mauad T; Débora Romeo BERTOLA et al. 2010. First brazilian case of lysinuric protein intolerance (lpi). In: Europena human genetics confernce 2010. Suécia.
  24. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; Amanda Salem BRASIL; Jorge Alexsander Augusto De LIMA; Malaquias ALEXSANDRA; A C KIM 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. Suécia.
  25. Life Sciences Neurology
    A C KIM; Assunção Júnior FB; Rachel S HONJO; Dutra ROBERTA; Amaral VAS et al. 2010. High fequency of autistic traits in williams-beuren patients. In: European human genetics conference. Suécia.
  26. Life Sciences Genetics
    Furquim Isabel MOSCA; Rachel S HONJO; Lourenço CM; Mauad T; Débora Romeo BERTOLA et al. 2010. First brazilian case of lysinuric protein intolerance (lpi). In: European human genetics conference. Suécia.
  27. Life Sciences Neurology
    Débora Romeo BERTOLA; G PORTA; Gonçalves M P; Cardoso S R; Lisa SUZUKI et al. 2007. Hepatic involvement in cockayne syndrome type a. In: European genetics conference. França.
  28. Life Sciences Neurology
    Albano L M J; S P ROBERTSON; Luiz A N OLIVEIRA; Débora Romeo BERTOLA; C A KIM. 2007. Otopalatodigital type i syndrome: report of a familial case. In: European human genetics conference. França.
  29. Health Sciences Medicine (miscellaneous)
    Ca KIM; Rachel S HONJO; Débora Romeo BERTOLA; Lilian M J ALBANO; L A N OLIVEIRA et al. 2007. Sost gene nutation in two brazilian families with sclerosteosis. In: European human genetics conference. França.
  30. Health Sciences Medicine (miscellaneous)
    Ivanete Chaves SBRUZI; Alexandre Costa PEREIRA; José Eduardo KRIEGER; Débora Romeo BERTOLA; Lílian Maria José ALBANO et al. 2006. Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de williams-beuren. In: 18º congresso brasileiro de genética clínica. Brasil.
  31. Life Sciences Genetics
    Débora Romeo BERTOLA; Alexandre C PEREIRA; Lilian M J ALBANO; Ana Carolina De PAULA; Yu 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: 18º congresso brasileiro de genética clínica. Brasil.
  32. Health Sciences Genetics (clinical)
    Ana Carolina De PAULA; Lílian M J ALBANO; Débora Romeo BERTOLA; Claudia R L SILVA; Vera A GLEVYMAN et al. 2006. Estudo de intercorrências clínicas em 30 pacientes com mucopolissacaridoses. In: 18º congresso brasileiro de genética clínica. Brasil.
  33. Health Sciences Genetics (clinical)
    Gabriela Nunes LEAL; Ana C PAULA; Lílian ALBANO; Débora Romeo BERTOLA; Chong E KIM. 2006. Estudo ecocardiográfico de 28 pacientes portadores de mucopolissacaridose. In: 18º congresso brasileiro de genética clínica. Brasil.
  34. Life Sciences Genetics
    Beatriz VASCONCELOS; Claudia R L SILVA; Lilian M J ALBANO; Débora Romeo BERTOLA; Claudia I E CASTRO et al. 2006. Triplo-x; tetrassomia e pentassomia do x: relato de 11 casos. In: 18º congresso brasileiro de genética clínica. Brasil.
  35. Health Sciences Neurology (clinical)
    Claudia Renata L SILVA; Débora Romeo BERTOLA; Lílian M J ALBANO; Ana C PAULA; Vera A G LEVYMAN et al. 2006. Displasia cifomélica x osteogênese imperfeita. In: 18º congresso brasileiro de genética clínica. Brasil.
  36. Health Sciences Neurology (clinical)
    Lílian M J ALBANO; Débora Romeo BERTOLA; Isabela T L SANTOS; Maria E J R CECCON; Marcelo VALENTE et al. 2006. Sequência de displasia caudal - estudo anatomo-patológico de um rn com agenesia multisegmentar da coluna. In: 18º congresso brasileiro de genética clínica. Brasil.
  37. Health Sciences Medicine (miscellaneous)
    Vera A G LEVYMAN; Lílian M J ALBANO; Débora Romeo BERTOLA; Maria J Marques DIAS; Claudia LEITE et al. 2006. Experiência terapêutica em doença de menkes: relato de um caso familiar. In: 18º congresso brasileiro de genética clínica. Brasil.
  38. Health Sciences Neurology (clinical)
    C R L SILVA; Débora Romeo BERTOLA; L M J ALBANO; V ODONE; C A 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.
  39. Life Sciences Genetics
    L M J ALBANO; T B BRASIL; M B MOREIRA; C R L SILVA; Débora Romeo 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.
  40. Life Sciences Neurology
    C S DÁNGELO; J A PAZ; C A KIM; Débora Romeo 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. Brasil.
  41. Life Sciences Genetics
    Débora Romeo BERTOLA; H CAO; L M J ALBANO; D P OLIVEIRA; Kok F et al. 2005. Ckn1 gene analysis in cockayne syndrome: novel mutaions in eight typical patients. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  42. Health Sciences Genetics (clinical)
    M C VARELA; C A KIM; Débora Romeo BERTOLA; 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 phenotypeand investigation of sim1 gene deletion in 87 patients with syndromic obesity. In: 55th annual meeting the american society of human genetics. Estados Unidos.
  43. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    B VASCONCELOS; L M J ALBANO; C I E CASTRO; Débora Romeo BERTOLA; 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.
  44. Life Sciences Genetics
    Débora Romeo BERTOLA; A C PEREIRA; C A KIM; L M J ALBANO; J E KRIEGER. 2005. Study of the ptpn11 gene in 58 probands with noonan syndrome and noonan-like phenotype. In: 17º congresso brasileiro de genética clínica. Brasil.
  45. Health Sciences Medicine (miscellaneous)
    C R L SILVA; V ODONE; C A KIM; L M J ALBANO; Débora Romeo BERTOLA. 2005. Evolução clínica de cinco pacientes com rothmund-thomson: importância de osteosarcoma. In: 17º congresso brasileiro de genética clínica. Brasil.
  46. Social Sciences & Humanities Psychology (miscellaneous)
    Débora Romeo BERTOLA; C H GONZALEZ. 2005. Associação das seqüências de poland e möebius em uma paciente. In: 17º congresso brasileiro de genética clínica. Brasil.
  47. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; C A KIM; Débora Romeo BERTOLA; M F BARBA; S P ROBERTSON. 2005. Phenoypic overlap in melnick-needles; serpentine fibula-polycystic kidney; and hajdu-cheney syndromes: a clinical and molecular study in three patients. In: 17º congresso brasileiro de gnética clínica. Brasil.
  48. Life Sciences Genetics
    A C PAULA; A C G M SANTOS; T P DELBONI; Débora Romeo BERTOLA; L M J ALBANO et al. 2005. Mucopolysacharidosis i (hurler-scheie) with non coarse facial features. In: 17º congresso brasileiro de genética clínica. Brasil.
  49. 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: 17º congresso brasileiro de genética clínica. Brasil.
  50. Life Sciences Genetics
    B VASCONCELOS; I C SBRUZZI; L M J ALBANO; Débora Romeo BERTOLA; C P KOIFFMANN et al. 2005. Síndrome do cromossomo em anel. In: 17º congresso brasileiro de genética clínica. Brasil.
  51. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; M SANO; L YANO; E M A DINIZ; Débora Romeo BERTOLA et al. 2004. Galactosialidose: relato de tres casos com início precoce. In: 16º congresso brasileiro de genética clínica. Brasil.
  52. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; L A N OLIVEIRA; Débora Romeo BERTOLA; A C PAULA; T P DELBONI et al. 2004. Omodisplasia: relato do primeiro caso brasileiro. In: 16º congresso brasileiro de genética clínica. Brasil.
  53. Life Sciences Genetics
    A C PAULA; A C G M SANTOS; T P DELBONI; Débora Romeo BERTOLA; L M J ALBANO et al. 2004. Achados radiológicos em pacientes com mucopolissacaridose tipo vi (sindrome de maroteaux-lamy). In: 16º congresso brasileiro de genética clínica. Brasil.
  54. Life Sciences Genetics
    Débora Romeo BERTOLA; A C PEREIRA; J D A CARNEIRO; Krieger J E; Kim C A. 2004. Further evidence that the t731 ptpn11 gene mutation is associated with myeloproliferative disorder in noonan syndrome. In: Annual clinical genetics meeting; 2004. Estados Unidos.
  55. Life Sciences Neurology
    C A KIM; L M J ALBANO; L R S SADECK; C R LEONE; G F GATTAS 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; 2004. Estados Unidos.
  56. Life Sciences Genetics
    Kim C A; Paula A C; Débora Romeo BERTOLA; Toma L; Giugliani R et al. 2003. Clinical and laboratorial study of 26 brazilian cases of mucopolysaccharidosis. In: International symposyum on lysosomal storage diseases. Brasil.
  57. Life Sciences Genetics
    Kim C A; Moreira M B; Ferraro V H; Brasil A S; Albano L M J et al. 2003. Frequência de aberração cromossômica nos pacientes atendidos na unidade de genética entre 1992 e 2002. In: 15º congresso brasileiro de genética clínica. Brasil.
  58. Health Sciences Medicine (miscellaneous)
    Paula A C; Albano L M J; Débora Romeo BERTOLA; Moreira M B; Ferraro V H et al. 2003. Estudo clínico de dez pacientes com mucopolissacaridose tipovi (s maroteaux-lamy). In: 15º congresso nacional de genética clínica. Brasil.
  59. Health Sciences Medicine (miscellaneous)
    A C PAULA; Débora Romeo BERTOLA; L M J ALBANO; Fabre M J; Oliveira L A N et al. 2003. S morquio x s dyggve-melchior-clausen. In: 15º congresso nacional de genética clínica. Brasil.
  60. Health Sciences Medicine (miscellaneous)
    Paula A C; Albano L M J; Débora Romeo BERTOLA; Ferraro V H; Tulio E 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.
  61. Health Sciences Genetics (clinical)
    Paula A C; Tupinambá A L F; Vallada M G; Marques H S; Vidolim E et al. 2002. Síndrome diencefálica x lipoatrofias: diagnóstico diferencial. In: 14º congresso brasileiro de genética clínica. Brasil.
  62. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Pinto M I; Paula A; Débora Romeo BERTOLA; Albano L M J; Kim C A et al. 2002. A importância do estudo citogenético na síndrome de bloom. In: 14º congresso brasileiro de genética clínica. Brasil.
  63. Health Sciences Medicine (miscellaneous)
    Sbruzzi I C; Vasconcelos B; Débora Romeo BERTOLA; Albano L M J; Mesquita S et al. 2002. Sobrevida prolongada em dois pacientes com síndrome de edwards. In: 14º congresso brasileiro de genética clínica. Brasil.
  64. Social Sciences & Humanities Psychology (miscellaneous)
    Sugayama S M M; Koch V H; Furusawa E A; Sammour Z M; Gomes C M et al. 2002. Achados renais e urinários em 20 pacientes com síndrome de williams-beuren. In: 14º congresso brasileiro de genética clínica. Brasil.
  65. Social Sciences & Humanities Psychology (miscellaneous)
    Sugayama S M M; Leone C; Koch V H; Furusawa E A; Débora Romeo BERTOLA et al. 2002. Proposta de sistema de pontuação (score) para diagnóstico clínico da síndrome de williams-beuren. In: 14º congresso brasileiro de genética clínica. Brasil.
  66. Life Sciences Genetics
    Débora Romeo BERTOLA; Kim C A; Sugayama S M M; Albano L M J; Carneiro J D et al. 2000. Noonan syndrome: a clinical and genetic study of 31 patients. In: 12º congresso brasileiro de genética clínica; 3º símposio luso-brasileiro de genética clínica;. Brasil.
  67. Life Sciences Genetics
    Sugayama S M M; Chauffaille M L; Abe K T; Débora Romeo BERTOLA; Albano L M J et al. 2000. Clinical study and use of fish analysis to diagnostic aproach of 21 brazilian patients with williams-beuren syndrome. In: 13º congresso brasileiro de genética clínica. Brasil.
  68. Social Sciences & Humanities General Social Sciences
    Débora Romeo BERTOLA; Sugayama S M M; Albano L M J; Ikari N M; Chauffaille M L et al. 2000. Fluorescence in situ hybridization (fish) analysis in the diagnosis of velo-cardio-facial syndrome and digeorge syndrome. In: 13º congresso brasileiro de genética clínica. Brasil.
  69. Social Sciences & Humanities Psychology (miscellaneous)
    Sugayama S M M; Valente M H; Albano L M J; Débora Romeo BERTOLA; Utagawa C Y et al. 1999. Síndrome de shprintzen-goldberg: relato de caso e revisão de literatura. In: 11º congresso brasileiro de genética clínica. Brasil.
  70. Health Sciences Medicine (miscellaneous)
    Valente M H; Paz J A; Kim C A; Sugayama S M M; Débora Romeo BERTOLA et al. 1999. Avaliação tomográfica nas artrogriposes relacionadas ao uso materno de misoprostol. In: 11º congresso brasileiro de genética clínica. Brasil.
  71. Health Sciences Medicine (miscellaneous)
    Utagawa C Y; Kim C A; Sugayama S M M; Débora Romeo BERTOLA; Oliveira L A N et al. 1999. Disostose espôndilo-costal: estudo de 14 pacientes. In: 11º congresso brasileiro de genética clínica. Brasil.
  72. Health Sciences Genetics (clinical)
    Sugayama S M M; Kim C A; Inoue M M S K; Utagawa C Y; Débora Romeo BERTOLA et al. 1999. Importance of cyanide-nitroprusside test for the diagnosis of homocystinuria. In: Congressso de patologia e medicina laboratorial. 33º brasileiro- 4º mercosul- 20º mundial- 3º gestão laboratorial. Brasil.
  73. Life Sciences Neurology
    Sugayama S M M; Kim C A; Abe K T; Albano L M J; Débora Romeo BERTOLA et al. 1999. Use of fish analysis to diagnostic approach of 11 brazilian patients with williams-beuren syndrome. In: Congressso de patologia e medicina laboratorial. 33º brasileiro- 4º mercosul- 20º mundial- 3º gestão laboratorial. Brasil.
  74. Life Sciences Genetics
    Sugayama S M M; Débora Romeo BERTOLA; Albano L M J; Utagawa C Y; Andrade C E F 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.
  75. Health Sciences Neurology (clinical)
    Débora Romeo BERTOLA; Utagawa C Y; Sugayama S M M; Albano L M J; Andrade C E F et al. 1998. Aec syndrome: further evidence for the variable expressivity of this condition. In: 10º congresso brasileiro de genética clínica e 1º simpósio luso-brasileiro de genética médica. Brasil.
  76. Life Sciences Genetics
    Andrade C E F; Molla H R P; Utagawa C Y; Sugayama S M M; Débora 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 nodeste. Brasil.
  1. 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. online, online ahead-Online ahead.
  2. Health Sciences Neurology (clinical)
    Rezende Raissa C; Noronha Renata MARIA; Keselman ANA; Quedas Elisangela P S; Dantas Naiara C B et al. 2022. Delayed puberty phenotype observed in noonan syndrome is more pronounced in girls than boys. Hormone research in paediatrics. online, online ahead-Online ahead.
  3. Life Sciences Genetics
    Linnenkamp BIANCA; Girardi RAISSA; Rocha LETÍCIA; Yamamoto GUILHERME; Ceroni José RICARDO et al. 2022. Vertebral segmentation defects in a brazilian cohort: clinical and molecular analysis focused on spondylocostal dysostosis. Clinical genetics. online, online ahead-Online ahead.
  4. Health Sciences Neurology (clinical)
    Moreira Danielle De PAULA; Suzuki Angela MAY; Silva André Luiz Teles E; Varella Branco ELISA; Meneghetti Maria Cecília ZORÉL et al. 2022. Neuroprogenitor cells from patients with tbck encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in cellular neuroscience. 15, online ahead-Online ahead.
  5. Health Sciences Neurology (clinical)
    Ali Taccyanna M; Linnenkamp Bianca D W; Yamamoto Guilherme L; Honjo Rachel S; Cabral De Menezes Filho HAMILTON et al. 2022. The recurrent homozygous translation start site variant in <scp> ccdc134</i> </scp> in an individual with severe osteogenesis imperfecta of <scp>non-morrocan</scp> ancestry. American journal of medical genetics part a. online, online ahead-Online ahead.
  6. 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.
  7. Life Sciences Genetics
    Krepischi Ana C V; Villela DARINE; Da Costa Silvia SOUZA; Mazzonetto Patricia C; Schauren JULIANA et al. 2022. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in brazil. Scientific reports. 12, 15184--.
  8. 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--.
  9. Life Sciences Genetics
    Duan RUIZHI; Hijazi HADIA; Gulec Elif YILMAZ; Eker Hatice KOÇAK; Costa Silvia R et al. 2022. Developmental genomics of limb malformations: allelic series in association with gene dosage effects contribute to the clinical variability. Human genetics and genomics advances. 3, 100132--.
  10. Health Sciences Pediatrics, Perinatology and Child Health
    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, 492--.
  11. Health Sciences Medicine (miscellaneous)
    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--.
  12. 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. 185, 1561-1568.
  13. Health Sciences Medicine (miscellaneous)
    Noronha Renata M; Villares Sandra M F; Torres NATALIA; Quedas Elisangela P S; Homma Thais KATAOKA et al. 2021. Noonan syndrome patients beyond the obvious phenotype: a potential unfavorable metabolic profile. American journal of medical genetics part a. 185, 774-780.
  14. Health Sciences Medicine (miscellaneous)
    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.
  15. Life Sciences Genetics
    Carvalho L M L; Costa S S; Campagnari F; Kaufman A; Débora Romeo BERTOLA et al. 2021. Two novel pathogenic variants in med13l</i> : one familial and one isolated case. Journal of intellectual disability research. 65, 1049-1057.
  16. Life Sciences Developmental Biology
    Grochowski Christopher M; Krepischi Ana C V; Eisfeldt JESPER; Du HAOWEI; Débora Romeo BERTOLA et al. 2021. Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing coffin-siris syndrome. Frontiers in genetics. 12, online ahead-Online ahead.
  17. Life Sciences Neurology
    Castro Matheus Augusto ARAÚJO; Santos Juliana Heather VEDOVATO; Honjo Rachel SAYURI; Yamamoto Guilherme LOPES; Débora Romeo BERTOLA et al. 2021. Twenty-year follow-up of the facial phenotype of brazilian patients with sotos syndrome. American journal of medical genetics part a. 185, 3916-3923.
  18. 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. 100, 615-623.
  19. Health Sciences Neurology (clinical)
    Pires Lucas Vieira LACERDA; Bordim Renata De ALMEIDA; Maciel Maria Beatriz RABELO; Tanaka Ana Cristina SAYURI; Yamamoto Guilherme LOPES et al. 2021. Atypical; severe hypertrophic cardiomyopathy in a newborn presenting noonan syndrome harboring a recurrent heterozygous <scp> mras</i> </scp> variant. American journal of medical genetics part a. 185, 3099-3103.
  20. Life Sciences Genetics
    Calpena EDUARDO; Wurmser MAUD; Mcgowan Simon J; Atique RODRIGO; Débora Romeo BERTOLA et al. 2021. Unexpected role of six1</i> variants in craniosynostosis: expanding the phenotype of six1</i> -related disorders. Journal of medical genetics. 59, jmedgenet-2020-169.
  21. Life Sciences Genetics
    Aguiar Talita Ferreira MARQUES; Rivas Maria PRATES; Costa SILVIA; Maschietto MARIANA; Rodrigues TATIANE et al. 2020. Insights into the somatic mutation burden of hepatoblastomas from brazilian patients. Frontiers in oncology. 10, 556-.
  22. Health Sciences Radiology, Nuclear Medicine and Imaging
    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. Aug 28, S2359-399720200-.
  23. Life Sciences Genetics
    Débora Romeo BERTOLA; Castro Matheus A A; Yamamoto Guilherme L; Honjo Rachel S; Ceroni José RICARDO et al. 2020. Phenotype-genotype analysis of 242 individuals with <scp>rasopathies</scp> : 18-year experience of a tertiary center in brazil. American journal of medical genetics part c-seminars in medical genetics. 184, 896-911.
  24. Life Sciences Animal Science and Zoology
    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. 42, 50-65.
  25. Life Sciences Neuroscience (miscellaneous)
    Lin Yuh CHARN; Niceta MARCELLO; Muto VALENTINA; Vona BARBARA; Pagnamenta Alistair T et al. 2020. Scube3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. American journal of human genetics. 108, 115-133.
  26. 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, e28376-.
  27. Life Sciences Genetics
    Burrage Lindsay C; Reynolds John J; Baratang Nissan VIDA; Phillips Jennifer B; Wegner JEREMY et al. 2019. Bi-allelic variants in tonsl cause sponastrime dysplasia and a spectrum of skeletal dysplasia phenotypes. American journal of human genetics. 104, 422-438.
  28. Health Sciences Medicine (miscellaneous)
    Romanelli Tavares Vanessa L; Kague ERIKA; Musso Camila M; Alegria Thiago G P; Freitas Renato S et al. 2019. Craniofrontonasal syndrome caused by introduction of a novel uatg in the 5-utr of efnb1</i></b>. Molecular syndromology. 10, 40-47.
  29. Life Sciences Genetics
    Guo LONG; Débora Romeo BERTOLA; 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. 104, 925-935.
  30. 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.
  31. Health Sciences Neurology (clinical)
    Uchiyama YURI; Kim Chong A; 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.
  32. Health Sciences Neurology (clinical)
    Saida KEN; Chong Ae KIM; Ceroni José Ricardo MAGLIOCCO; Débora 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-epub.
  33. 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-epub.
  34. Health Sciences Medicine (miscellaneous)
    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. 48, 1201-1207.
  35. 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. 105, 836-843.
  36. Life Sciences Genetics
    Homma Thais KATAOKA; Freire Bruna LUCHEZE; Honjo Kawahira Rachel SAYURI; Dauber ANDREW; Funari Mariana Ferreira De ASSIS et al. 2019. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing. Journal of pediatrics. S0022-, 1082-0.
  37. Health Sciences Pediatrics
    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. 92, 115-123.
  38. Life Sciences Genetics
    Ceroni José RM; Yamamoto Guilherme L; Honjo Rachel S; Kim Chong A; Passos Bueno Maria R et al. 2018. Large deletion in pigl: a common mutational mechanism in chime syndrome?. Genetics and molecular biology (online version). 41, 85-91.
  39. Life Sciences Genetics
    Leal Gabriela FERRAZ; Nishimura GEN; Voss ULRIKA; Débora Romeo BERTOLA; Åström EVA et al. 2018. Expanding the clinical spectrum of phenotypes caused by pathogenic variants in plod2</i>. Journal of bone and mineral research. 33, 753-760.
  40. Health Sciences Medicine (miscellaneous)
    Vasques Gabriela A; Funari Mariana F A; Ferreira Frederico M; Aza Carmona MIRIAM; Sentchordi Montané LUCIA et al. 2018. Ihh gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy. Journal of clinical endocrinology & metabolism. 103, 604-614.
  41. Life Sciences Neurology
    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.
  42. Life Sciences Neurology
    Débora Romeo BERTOLA; Hsia G; Alvizi L; Gardham A; Wakeling E L et al. 2018. Richieri-costa-pereira syndrome: expanding its phenotypic and genotypic spectrum. Clinical genetics. 93, 800-811.
  43. Health Sciences Genetics (clinical)
    Paolacci STEFANO; Li YUN; Agolini EMANUELE; Bellacchio EMANUELE; Arboleda Bustos Carlos E et al. 2018. Specific combinations of biallelic variants cause wiedemann-rautenstrauch syndrome. Journal of medical genetics. 55, 837-846.
  44. Life Sciences Genetics
    Meira JOANNA; Sarno MANOEL; Faria ÁGATHA; Yamamoto GUILHERME; Débora Romeo BERTOLA et al. 2018. Diagnosis of atelosteogenesis type i suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism. Revista brasileira de ginecologia e obstetrícia (impresso). 40, 570-576.
  45. Social Sciences & Humanities Psychology (miscellaneous)
    Ceroni J R M; Dutra R L; Honjo R S; Llerena J C; Acosta A X et al. 2018. A multicentric brazilian investigative study of copy number variations in patients with congenital anomalies and intellectual disability. Scientific reports. 8, 13382-.
  46. Life Sciences Neuroscience (miscellaneous)
    Carneiro THAISE; Krepischi ANA; Souza Da Costa SILVIA; Tojal Da Silva ISRAEL; Vianna Morgante ANGELA et al. 2018. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The application of clinical genetics. Volume 11, 93-98.
  47. Life Sciences Genetics
    Malcher CAROLINA; Yamamoto Guilherme L; Burnham PHILIP; Ezquina Suzana A M; Lourenço Naila C V et al. 2018. Development of a comprehensive noninvasive prenatal test. Genetics and molecular biology (online version). 41, 545-554.
  48. 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, e324-.
  49. Life Sciences Neuroscience (miscellaneous)
    Hsia Gabriella S P; Musso Camila M; Alvizi LUCAS; Brito Luciano A; Kobayashi Gerson S et al. 2018. Complexity of the 5- untranslated region of eif4a3; a critical factor for craniofacial and neural development. Frontiers in genetics. 9, 149-.
  50. 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, 14-.
  51. Life Sciences Genetics
    Costantini ALICE; Valta HELENA; Baratang Nissan VIDA; Yap PATRICK; Débora Romeo BERTOLA et al. 2018. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with -corner fractures-. Bone. 121, 163-171.
  52. Life Sciences Genetics
    Débora Romeo BERTOLA; 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.
  53. Health Sciences Medicine (miscellaneous)
    Romanelli Tavares Vanessa L; Zechi Ceide Roseli M; Débora Romeo BERTOLA; Gordon Christopher T; Ferreira Simone G et al. 2017. Targeted molecular investigation in patients within the clinical spectrum of auriculocondylar syndrome. American journal of medical genetics. part a. 173, 938-945.
  54. Life Sciences Genetics
    Altmüller FRANZISKA; Lissewski CHRISTINA; Débora Romeo BERTOLA; Flex ELISABETTA; Stark ZORNITZA et al. 2017. Genotype and phenotype spectrum of nras germline variants. European journal of human genetics. 25, 823-831.
  55. Health Sciences Neurology (clinical)
    Paolacci STEFANO; Débora Romeo BERTOLA; Franco JOSÉ; Mohammed SHEHLA; Marco TARTAGLIA et al. 2017. Wiedemann-rautenstrauch syndrome: a phenotype analysis. American journal of medical genetics part a. 173, 1763-1772.
  56. Health Sciences Radiology, Nuclear Medicine and Imaging
    Nunes Luisa M; Ribeiro ROBERTO; Niewiadonski Vivian D T; Sabino ESTER; Yamamoto Guilherme L et al. 2017. A new insight into cftr allele frequency in brazil through next generation sequencing. Pediatric pulmonology. 52, 1300-1305.
  57. 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. -, ---.
  58. Life Sciences Neuroscience (miscellaneous)
    Miller Emily E; Kobayashi Gerson S; Musso Camila M; Allen MIRANDA; Ishiy Felipe A A et al. 2017. Eif4a3 deficient human ipscs and mouse models demonstrate neural crest defects that underlie richieri-costa-pereira syndrome. Human molecular genetics. 26, 2177-2191.
  59. Health Sciences Genetics (clinical)
    Débora Romeo BERTOLA; Buscarilli MICHELLE; Stabley Deborah L; Baker LAURA; Doyle DANIEL et al. 2017. Phenotypic spectrum of costello syndrome individuals harboring the rare hras</i> mutation p.gly13asp. American journal of medical genetics part a. 173, 1309-1318.
  60. Life Sciences Genetics
    Lee Chae SYNG; Fu HE; Baratang NISSAN; Rousseau JUSTINE; Kumra HEENA et al. 2017. Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with -corner fractures-. American journal of human genetics. 101, 815-823.
  61. Health Sciences Genetics (clinical)
    Koczkowska MAGDALENA; Chen YUNJIA; Callens TOM; Gomes ALICIA; Sharp ANGELA et al. 2017. Genotype-phenotype correlation in nf1: evidence for a more severe phenotype associated with missense mutations affecting nf1 codons 844-848. American journal of human genetics. 102, 69-87.
  62. Health Sciences Genetics (clinical)
    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.
  63. Health Sciences Neurology (clinical)
    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). -, ----.
  64. 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. -, ---.
  65. Life Sciences Neurology
    Pegler José Roberto MENDES; Soares Diogo Cordeiro De QUEIROZ; Quaio Caio Robledo D Angioli COSTA; Fernandes NATALIA; Oliveira Luiz Antonio Nunes DE et al. 2016. Clinical description of 41 brazilian patients with oculo-auriculo-vertebral dysplasia. Revista da associação médica brasileira (1992. impresso). 62, 202-206.
  66. Health Sciences Medicine (miscellaneous)
    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.
  67. Life Sciences Genetics
    Franco J F; Soares D C; Torres L C; Leal G N; Cunha M T 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, ---.
  68. Life Sciences Genetics
    Débora Romeo BERTOLA; Honjo Rachel S; Baratela Wagner A R. 2016. Stüve-wiedemann syndrome: update on clinical and genetic aspects. Molecular syndromology. 7, 12-18.
  69. Health Sciences Genetics (clinical)
    Moreno Carolina ARAUJO; Metze KONRADIN; Lomazi Elizete APARECIDA; Débora Romeo BERTOLA; Barbosa Ricardo Henrique ALMEIDA et al. 2016. Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. American journal of medical genetics. part a. -, ---.
  70. Health Sciences Medicine (miscellaneous)
    Bonamichi Beatriz D S F; Santiago Stella L M; Débora Romeo BERTOLA; Kim Chong A; 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.
  71. Life Sciences Genetics
    Ha KYUNGSOO; Anand PRIYA; Lee JENNIFER; Jones JULIE; Kim CHONG 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, 96-.
  72. Life Sciences Genetics
    Carvalho ELLAINE; Honjo RACHEL; Magalhães MONIZE; Yamamoto GUILHERME; Rocha KATIA 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. 167A, n/a-n/a.
  73. Life Sciences Genetics
    Huckert M; Stoetzel C; Morkmued S; Laugel Haushalter V; Geoffroy V et al. 2015. Mutations in the latent tgf-beta binding protein 3 (ltbp3) gene cause brachyolmia with amelogenesis imperfecta. Human molecular genetics (print). 24, 3038-3049.
  74. Health Sciences Neurology (clinical)
    C Silveira KARINA; C Bonadia LUCIANA; Superti Furga ANDREA; Débora Romeo BERTOLA; A L Jorge ALEXANDER et al. 2015. Six additional cases of sedc due to the same and recurrent r989c mutation in the col2a1</i> gene-the clinical and radiological follow-up. American journal of medical genetics. part a. 167, 894-901.
  75. Life Sciences Clinical Biochemistry
    Kelmann Samantha VERNASCHI; Quaio Caio Robledo D Angioli COSTA; Honjo Rachel SAYURI; Débora 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. 54, n/a-n/a.
  76. Health Sciences Medicine (miscellaneous)
    Yamamoto G L; Aguena M; 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). 52, 413-421.
  77. Life Sciences Genetics
    Dikoglu ESRA; Alfaiz ALI; Gorna MARIA; Débora Romeo BERTOLA; Chae Jong HEE et al. 2015. Mutations in lonp1</i> ; a mitochondrial matrix protease; cause codas syndrome. American journal of medical genetics. part a. 167, n/a-n/a.
  78. Life Sciences Genetics
    Débora Romeo BERTOLA; Passos Bueno Maria RITA; Pereira ALEXANDRE; Kim CHONG; Morgan TIM et al. 2015. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in flna</i> and an atypical paternal phenotype: insights into genotype-phenotype correlation. American journal of medical genetics. part a. 167A, n/a-n/a.
  79. Health Sciences Genetics (clinical)
    Honjo Rachel SAYURI; Dutra Roberta LELIS; Furusawa Erika ARAI; Zanardo Evelin ALINE; Costa Larissa Sampaio De ATHAYDE 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.
  80. Health Sciences Pediatrics, Perinatology and Child Health
    Costa Larissa Sampaio De ATHAYDE; Pegler Stephanie PUCCI; Lellis Rute FACCHINI; Krebs Vera Lúcia JORNADA; Robertson STEPHEN et al. 2015. Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. Revista da associação médica brasileira. 61, 407-410.
  81. 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, 43-.
  82. Life Sciences Genetics
    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.
  83. Life Sciences Genetics
    Sukalo MAJA; Fiedler ARIANE; Guzmán CELINA; Spranger STEPHANIE; Addor Marie CLAUDE et al. 2014. Mutations in the human gene and the associated phenotypic spectrum. Human mutation. 35, 521-531.
  84. Life Sciences Genetics
    Canton A P; Costa S S; Rodrigues T C; Débora Romeo BERTOLA; Malaquias A C et al. 2014. Genome-wide screening of copy number variants in children born small for gestational age reveal several candidate genes involved in growth pathways. European journal of endocrinology. 2, 253-262.
  85. Life Sciences Genetics
    Quaio C R; Koda Y K; Débora Romeo BERTOLA; Sukalo M; Zenker M 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.
  86. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Passos Bueno Maria RITA; Débora Romeo BERTOLA; Horovitz Dafne Dain GANDELMAN; De Faria Ferraz Victor EVANGELISTA; Brito Luciano ABREU. 2014. Genetics and genomics in brazil: a promising future. Molecular genetics & genomic medicine. 4, n/a-n/a.
  87. Health Sciences Medicine (miscellaneous)
    Moysés Oliveira MARIANA; Mancini Tatiane I; Takeno Sylvia S; Rodrigues Andressa D S; Bachega Tania A S S et al. 2014. Congenital adrenal hyperplasia; ovarian failure and ehlers-danlos syndrome due to a 6p deletion. Sexual development. 8, 00-.
  88. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; Yamamoto Guilherme L; Almeida Tatiana F; Buscarilli MICHELLE; Jorge Alexander A L et al. 2014. Further evidence of the importance of rit1</i> in noonan syndrome. American journal of medical genetics. part a. epub, n/a-n/a.
  89. Life Sciences Neurology
    Verloes ALAIN; Di Donato NATALIYA; Masliah Planchon JULIEN; Jongmans MARJOLIJN; Abdul Raman Omar A et al. 2014. Baraitser-winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European journal of human genetics. epub, epub-epub.
  90. Life Sciences Neurology
    Moreira Danielle P; Griesi Oliveira KARINA; Bossolani Martins Ana L; Lourenço Naila C V; Takahashi Vanessa N O et al. 2014. Investigation of 15q11-q13; 16p11.2 and 22q13 cnvs in autism spectrum disorder brazilian individuals with and without epilepsy. Plos one. 9, e107705-.
  91. Life Sciences Genetics
    Yamamoto Guilherme L; Baratela Wagner A R; Almeida Tatiana F; Lazar MONIZE; Afonso Clara L et al. 2014. Mutations in pcyt1a cause spondylometaphyseal dysplasia with cone-rod dystrophy. American journal of human genetics. 94, 113-119.
  92. Life Sciences Genetics
    Borlot FELIPPE; Arantes Paula RICCI; Quaio Caio ROBLEDO; Franco José Francisco Da SILVA; Lourenço Charles MARQUES et al. 2014. Mucopolysaccharidosis type iva: evidence of primary and secondary central nervous system involvement. American journal of medical genetics. part a. epub, n/a-n/a.
  93. Life Sciences Genetics
    Favaro Francine P; Alvizi LUCAS; Zechi Ceide Roseli M; Débora Romeo BERTOLA; Felix Temis M et al. 2013. A noncoding expansion in eif4a3 causes richieri-costa-pereira syndrome; a craniofacial disorder associated with limb defects. American journal of human genetics. 1, 120-128.
  94. Health Sciences Neurology (clinical)
    F BORLOT; P R ARANTES; C R QUAIO; J F SILVA; C M LOURENÇO et al. 2013. New insights in mucopolysaccharidosis type vi: neurological perspective. Brain & development (tokyo. 1979). Aug21, epub-.
  95. Life Sciences Molecular Biology
    Moreira M C; Piazzon F B; Carvalho M D F; Quaio C R D C; Dutra A B et al. 2013. A dominant abcc</i> 8-related hyperinsulinism: familial case reportmoreira et al</i> . abcc8</i> -related hyperinsulinism. Fetal & pediatric pathology. 1, 130110050517009-.
  96. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Izzo GISELLE; Freitas Érika L; Krepischi Ana Cristina V; Pearson Peter L; Vasques Luciana R et al. 2013. A microduplication of 5p15.33 reveals clptm1l as a candidate gene for cleft lip and palate. European journal of medical genetics. 56, 222-225.
  97. Life Sciences Neurology
    D Angelo Carla SUSTEK; Kohl ILANA; Varela Monica CASTRO; De Castro Cláudia Irene EMÍLIO; Chong Ae KIM et al. 2013. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. American journal of medical genetics. part a. 161, 479-486.
  98. Life Sciences Neuroscience (miscellaneous)
    Débora Romeo BERTOLA; Rodrigues Melina G; Quaio Caio R D C; Kim Chong A; Passos Bueno Maria RITA. 2013. Vertical transmission of a frontonasal phenotype caused by a novel alx4</i> mutation. American journal of medical genetics. part a. 161, 600-604.
  99. Life Sciences Genetics
    Fonseca Ana CAROLINA; Bonaldi ADRIANO; Débora Romeo BERTOLA; Kim Chong A; 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-.
  100. Health Sciences Cardiology and Cardiovascular Medicine
    Ferreira De Almeida TATIANA; Débora Romeo BERTOLA. 2013. Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay; facial dysmorphism; and esophageal atresia: possible role of the gene in esophagus malformation. Birth defects research. clinical and molecular teratology. 97, 463-466.
  101. Health Sciences Neurology (clinical)
    Raposo Amaral Cassio EDUARDO; Tong ANNE; Denadai RAFAEL; Yalom ANISA; Raposo Amaral Cesar AUGUSTO et al. 2013. A subcranial le fort iii advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism. The journal of craniofacial surgery (print). 24, 1327-1330.
  102. 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.
  103. Health Sciences Neurology (clinical)
    Quaio Caio R D C; Carvalho Jozélio F; Da Silva Clovis A; Bueno CLEONICE; Brasil Amanda S et al. 2012. Autoimmune disease and multiple autoantibodies in 42 patients with rasopathies. American journal of medical genetics. part a. 158A, 1077-1082.
  104. Life Sciences General Biochemistry, Genetics and Molecular Biology
    Quaio Caio Robledo D Angioli COSTA; Dutra Roberta LELIS; Brasil Amanda SALEM; Alexandre C PEREIRA; Chong Ae KIM et al. 2012. A possible role of different ptpn genes in immune regulation. Scandinavian journal of immunology (print). 00, no-no.
  105. Health Sciences Genetics (clinical)
    Denadai RAFAEL; Raposo Amaral Cassio E; Débora Romeo BERTOLA; Kim CHONG; Alonso NIVALDO et al. 2012. Identification of 2 novel antxr2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. American journal of medical genetics. part a. 00, n/a-n/a.
  106. Life Sciences Neuroscience (miscellaneous)
    Hood Rebecca Nbsp L; Lines Matthew Nbsp A; Nikkel Sarah Nbsp M; Schwartzentruber JEREMY; Beaulieu CHANDREE et al. 2012. Mutations in srcap; encoding snf2-related crebbp activator protein; cause floating-harbor syndrome. American journal of human genetics. 90, 308-313.
  107. Life Sciences Genetics
    Débora Romeo BERTOLA; Poplawski AB; Tannuri U; Leite C; Pereira AC et al. 2012. Multiple; diffuse schwannomas in a rasopathy phenotype patient with germline kras mutation: a causal relationship?. Clinical genetics. 81, 595-597.
  108. Life Sciences Genetics
    Dutra R L; Honjo R S; Kulikowski L D; Fonseca F A M; Pieri P et al. 2012. Copy number variation in williams-beuren syndrome: suitable diagnostic strategy for developing countries. Bmc research notes. 5, 13-epub.
  109. Health Sciences Medicine (miscellaneous)
    Brasil Amanda S; Malaquias Alexsandra C; Kim Chong A; José Eduardo KRIEGER; Jorge Alexander A L et al. 2012. Kras gene mutations in noonan syndrome familial cases cluster in the vicinity of the switch ii region of the g-domain: report of another family with metopic craniosynostosis. American journal of medical genetics. part a. 158A, 1178-1184.
  110. Life Sciences Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
    Denadai RAFAEL; Débora Romeo BERTOLA; Raposo Amaral Cassio EDUARDO; Stelini Rafael FANTELLI. 2012. Additional thoughts about juvenile hyaline fibromatosis and infantile systemic hyalinosis. Advances in anatomic pathology. 19, 191-192.
  111. Health Sciences Medicine (miscellaneous)
    Denadai RAFAEL; Débora Romeo BERTOLA; Raposo Amaral Cassio EDUARDO. 2012. Systemic hyalinosis: new terminology; severity grading system; and surgical approach. The journal of pediatrics. 161, 173-.
  112. Life Sciences Genetics
    Griesi Oliveira KARINA; Moreira Danielle De PAULA; Davis Wright NICOLE; Sanders STEPHAN; Mason CHRISTOPHER et al. 2012. A complex chromosomal rearrangement involving chromosomes 2; 5; and x in autism spectrum disorder. American journal of medical genetics. part b; neuropsychiatric genetics. 159B, 529-536.
  113. Health Sciences Medicine (miscellaneous)
    Denadai RAFAEL; Raposo Amaral CASSIOEDUARDO; Débora Romeo BERTOLA. 2012. Hyaline fibromatosis syndrome: new unifying term and surgical approach. Indian journal of pathology and microbiology (print). epub, .-.
  114. Life Sciences Genetics
    Malaquias Alexsandra C; Brasil Amanda S; Pereira Alexandre C; Arnhold Ivo J P; Mendonca Berenice B et al. 2012. Growth standards of patients with noonan and noonan-like syndromes with mutations in the ras/mapk pathway. American journal of medical genetics. part a. 158A, 2700-2706.
  115. Life Sciences Neuroscience (miscellaneous)
    Brito Luciano A; Bassi Camila F S; Masotti CIBELE; Malcher CAROLINA; Rocha Kátia M et al. 2012. Irf6 is a risk factor for nonsyndromic cleft lip in the brazilian population. American journal of medical genetics. part a. 6, 22887868-.
  116. Health Sciences Neurology (clinical)
    Quaio CR; Almeida TF; Albano LM; Gomy I; Débora Romeo BERTOLA et al. 2012. A clinical follow-up of 35 brazilian patients with prader-willi syndrome. Clinics (usp. impresso). 67, 917-921.
  117. Life Sciences Neurology
    Jaillard SYLVIE; Andrieux JORIS; Plessis GHISLAINE; Krepischi Ana C V; Lucas JOSETTE et al. 2011. 5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects. American journal of medical genetics. part a. 155, 725-731.
  118. Health Sciences Psychiatry and Mental Health
    Jehee Fernanda SARQUIS; Takamori Jean TETSUO; Vasconcelos Medeiros Paula F; Pordeus Ana Carolina B; Latini Flavia Roche M 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. Epud, Epud-Epud.
  119. Life Sciences Genetics
    Débora Romeo BERTOLA; Aguena MEIRE; Yamamoto GUILHERME; Ae Kim CHONG; Passos Bueno Maria RITA. 2011. Obesity in pycnodysostosis due to upd1: possible effect of an imprinted gene on chromosome 1. American journal of medical genetics. part a. 155, 1483-1486.
  120. Life Sciences Genetics
    Brito Luciano A; Cruz Lucas A; Rocha Kátia M; Barbara Ligia K; Silva Camila B F et al. 2011. Genetic contribution for non-syndromic cleft lip with or without cleft palate (ns cl/p) in different regions of brazil and implications for association studies. American journal of medical genetics. part a. 155, 1581-1587.
  121. Life Sciences Genetics
    Gray Mary J; Chong Ae KIM; Débora Romeo BERTOLA; Arantes Paula RICCI; Stewart HELEN et al. 2011. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of hajdu¿cheney syndrome. European journal of human genetics. Epud, Epud-Epud.
  122. Life Sciences Genetics
    Bonaldi ADRIANO; Mazzeu Juliana F; Costa Silvia S; Honjo Rachel S; Débora 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. epud, n/a-n/a.
  123. Life Sciences Genetics
    Dutra R L; Pieri PATRÍCIA; Teixeira AC; Rachel S HONJO; Débora Romeo BERTOLA et al. 2011. Detection of deletions at 7q11.23 in williams-beuren syndrome by polymorphic markers. Clinics (usp. impresso). 66, 959-964.
  124. Health Sciences Medicine (miscellaneous)
    Vissers LE; Cox TC; Maga AM; Short KM; Wiradjaja F et al. 2011. Heterozygous mutations of frem1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. Plos genetics. 7, apud-apud.
  125. Health Sciences Genetics (clinical)
    Jesus Adriana A; Osman MAZEN; Silva Clovis A; Kim Peter W; Pham Tuyet HANG et al. 2011. A novel mutation of il1rn in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from brazil. Arthritis and rheumatism. 63, 4007-4017.
  126. Health Sciences Medicine (miscellaneous)
    Da Rocha Pitta Marin LENINA; Bezerra Gaspar Carvalho Da Silva Felipe THEODORO; Ferreira De Sã Luã Shy S CARLOS; Salem Brasil AMANDA; Pereira ALEXANDRE et al. 2011. Ocular manifestations of noonan syndrome. Ophthalmic genetics. 33, 1-5.
  127. Life Sciences Molecular Biology
    C S DÁNGELO; Kohl I; M C VARELA; De Castro CI; Ca KIM et al. 2010. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. American journal of medical genetics. part a. 152A, 102-110.
  128. Life Sciences Genetics
    Amanda Salem BRASIL; A C PEREIRA; Wanderely LUCIANA; C A KIM; Malquias AC et al. 2010. Ptpn11 and kras gene analysis in patients with noonan and noonan-like syndromes. Genetic testing and molecular biomarkers (print). 14, 425-432.
  129. Life Sciences Clinical Biochemistry
    L M ALBANO; Rivitti M C; Débora Romeo BERTOLA; Rachel S HONJO; Kelman SV et al. 2010. Angiokeratoma: a cutaneous marker of fabry's disease. Clinical and experimental dermatology (print). 35, 505-508.
  130. Health Sciences Neurology (clinical)
    Débora Romeo BERTOLA; Amaral CASSIO; Kim CHONG; Albano LILIAN; Aguena MEIRE et al. 2010. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. American journal of medical genetics. part a. n/a-n/a.
  131. Life Sciences Neuroscience (miscellaneous)
    Érica Regina MOTA; Débora Romeo BERTOLA; A C KIM; Maria Cristina Trigueiro Veloz TEIXEIRA. 2010. Alterações comportamentais na síndrome de noonan: dados preliminares brasileiros. Revista latinoamericana de psicología. 42, 87-95.
  132. Life Sciences Molecular Biology
    Praxedes LA; Pereira F M; Mazzeu JF; Costa S S; Débora Romeo BERTOLA et al. 2010. An illustrative case of neurofibromatosis type 1 and nf1 microdeletion. Molecular syndromology. 1, 133-135.
  133. Life Sciences Neurology
    Krepischi Ana Cristina VICTORINO; Knijnenburg JEROEN; Débora Romeo BERTOLA; Chong Ae KIM; Pearson Peter LEES et al. 2010. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia (copenhagen). 51, 2457-2460.
  134. Life Sciences Genetics
    Amanda Salem BRASIL; Malaquias ALEXSANDRA; Wanderely LUCIANA; A C KIM; Krieger J E et al. 2010. Co-occurring ptpn11 and sos1 gene mutations in noonan syndrome: does this predict a more severe phenotype?. Arquivos brasileiros de endocrinologia e metabologia (impresso). 54, 717-722.
  135. Health Sciences Pediatrics, Perinatology and Child Health
    Débora Romeo BERTOLA; Antequera REYNADO; Rodovalho Maria JULIANA; Rachel S HONJO; L M J ALBANO et al. 2009. Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. American journal of medical genetics. 149A, 532-534.
  136. Health Sciences Genetics (clinical)
    Rachel S HONJO; Casella EB; Vieira MA; Débora Romeo BERTOLA; L M ALBANO et al. 2009. Spondylocostal dysostosis associated with methylmalonic aciduria. Genetic testing. 13, 181-183.
  137. Life Sciences Genetics
    Fagali C; F KOK; Nicola P; Kim C; Débora Romeo BERTOLA et al. 2009. Mlpa analysis in 30 sotos syndrome patients revealed one total nsd1 deletion and two partial deletions not previously reported. European journal of medical genetics. 52, 333-336.
  138. Health Sciences Neurology (clinical)
    Kuczynski E; Débora Romeo BERTOLA; C I CASTRO; C P KOIFFMANN; Ca KIM. 2009. Infantile autism and 47;xyy karyotype. Arquivos de neuro-psiquiatria (impresso). 67, 717-718.
  139. Health Sciences Medicine (miscellaneous)
    Teixeira CS; Silva CR; Honjo RS; Débora Romeo BERTOLA; L M ALBANO et al. 2009. Dental evaluation of kabuki syndrome patients. Cleft palate-craniofacial journal. 46, 668-673.
  140. Health Sciences Genetics (clinical)
    Ca KIM; Delépine M; Boutet E; Mourabit HE; Lay S 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.
  141. Health Sciences Medicine (miscellaneous)
    JEHEE; Krepischi Santos AC; Rocha KM; Cavalcanti DP; A C KIM et al. 2008. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis; mlpa and array-cgh. Journal of medical genetics. 45, 447-450.
  142. Health Sciences Pediatrics, Perinatology and Child Health
    Alencastro G; Mccloskey DE; Kliemann SE; Maranduba CMC; Pegg AE et al. 2008. New sms mutation leads to a striking reduction in spermine synthase protein function and a severe form of snyder?robinson x-linked recessive mental retardation syndrome. Journal of medical genetics. 45, 539-543.
  143. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Honjo RACHEL; Débora Romeo BERTOLA; Lílian ALBANO; Oliveira LUIZ et al. 2008. A known sost</i> gene mutation causes sclerosteosis in a familial and an isolated case from brazilian origin. Genetic testing. 12, 475-479.
  144. Health Sciences Genetics (clinical)
    L M ALBANO; Débora 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 syndromes: a clinical and molecular study in three patients. Clinical dysmorphology. 16, 27-33.
  145. Life Sciences Genetics
    Débora Romeo BERTOLA; A C PEREIRA; Amanda Salem BRASIL; L M J ALBANO; A C KIM et al. 2007. Further evidence of genetic heterogeneity in costello syndrome: involvement of the kras gene. Journal of human genetics. 52, 521-526.
  146. Life Sciences Neurology
    Jehee FS; Débora Romeo BERTOLA; Krishna K YELAVARTHI; Krepischi Santos AC; 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. 143, 1912-1918.
  147. Life Sciences Neurology
    C S D ANGELO; J A Da PAZ; C A KIM; Débora Romeo BERTOLA; C I 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 [epub ahead of print]. European journal of medical genetics. Brasil. -.
  148. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; H 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.
  149. Life Sciences Genetics
    Débora Romeo BERTOLA; A C PEREIRA; Lilian M J ALBANO; P S De OLIVEIRA; Chong Ae KIM et al. 2006. Ptpn11 gene analysis in 74 brazilian patients with noonan syndrome or noonan-like phenotype. Genetic testing. 10, 186-191.
  150. Health Sciences Medicine (miscellaneous)
    Krepischi Santos AC; Vianna Morgante A; Jehee FS; Passos Bueno MR; Knijnenburg J 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.
  151. Health Sciences Pediatrics, Perinatology and Child Health
    M C VARELA; A Y Simões SATO; C A KIM; Débora Romeo BERTOLA; C I E CASTRO et al. 2006. 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. European journal of medical genetics. 49, 298-305.
  152. Life Sciences Genetics
    C A KIM; A KÖNIG; Débora Romeo BERTOLA; 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). Suiça. 211, (2) 155-158.
  153. Life Sciences Genetics
    Débora Romeo BERTOLA; A C PEREIRA; F PASSETTI; P S 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. 136, (3) 242-245.
  154. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    L M J ALBANO; P P O SAKAE; M M G B MATALOUN; C R LEONE; Débora Romeo BERTOLA et al. 2004. Hydronephrosis in schinzel-giedion syndrome: an important clue for the diagnosis. Revista do hospital das clínicas (fmusp). 59, (2) 89-92.
  155. Life Sciences Genetics
    Débora Romeo BERTOLA; C A KIM; L M 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. Dinamarca. 66, (1) 79-80.
  156. Life Sciences Genetics
    Débora Romeo BERTOLA; A C PEREIRA; P S OLIVEIRA; C A 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. 130, (4) 378-383.
  157. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; Albano Lilian Maria ALBANO; Kim Chong AE. 2004. Síndromes genéticas e cardiopatia. Revista da sociedade de cardiologia do estado de são paulo. Brasil. 14, (3) 418-426.
  158. Health Sciences Medicine (miscellaneous)
    A C PAULA; Donato Junior F; Débora Romeo BERTOLA; L M J ALBANO; C A KIM et al. 2004. Achados radiológico sem pacientes com mucoplissacaridose tipo vi (síndrome de maroteaux-lamy). Revista da imagem. Brasil. 26, (Supl 1) 49-.
  159. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; J D A CARNEIRO; E A D AMICO; C A KIM; L M J ALBANO et al. 2003. Hematological findings in noonan syndrome. Revista do hospital das clínicas (fmusp). 58, (1) 5-8.
  160. Life Sciences Genetics
    C A KIM; A C PAULA; Débora Romeo BERTOLA; L TOMA; R GIUGLIANI et al. 2003. Clinical study of 10 brazilian cases of mucopolysaccharidosis vi. American journal of human genetics. Estados Unidos. 73, (5) 452-.
  161. Health Sciences Neurology (clinical)
    L M J ALBANO; S Ad NISHIOKA; R L MOYSÉS; J WAGENTUR; Débora Romeo BERTOLA et al. 2002. Ataxia de friedreich: avaliação cardíaca de 25 pacientes. Arquivos brasileiros de cardiologia. Brasil. 78, (5) 444-451.
  162. Life Sciences Genetics
    Marco TARTAGLIA; Kamini KALIDAS; Adam SHAW; Xiaoling SONG; Dan L MUSAT et al. 2002. Ptpn11 mutations in noonan syndrome: molecular spectrum; genotype-phenotype correlation; and phenotypic heterogeneity. American journal of human genetics. 70, 1555-1563.
  163. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; C A KIM; A C PEREIRA; G F MOTA; J E KRIEGER et al. 2001. Are noonan sydrome and noonan-like/multiple giant cell lesion syndrome distinct entities?. American journal of medical genetics. 98, (3) 230-234.
  164. Life Sciences Genetics
    Albano Lilian M J; M ZATZ; C A KIM; Débora Romeo BERTOLA; M J Marques DIAS et al. 2001. Friedreich's ataxia: clinical and molecular study of 25 brazilian cases. Revista do hospital das clínicas (fmusp). 56, (5) 143-148.
  165. Life Sciences Neurology
    S F MESQUITA; Débora Romeo BERTOLA; L M J ALBANO; A C PEREIRA; J E KRIEGER et al. 2001. Natural history of geleophysic dysplasia: report of one case with 30 years. American journal of human genetics. Estados Unidos. 69, (4) 307-.
  166. Health Sciences Medicine (miscellaneous)
    Albano L M J; Moyses R I; Wagenfuhr J; Nishioka S A D; Débora Romeo BERTOLA et al. 2001. Cardiac evaluation of 25 brazilian patients with friedreich's ataxia. European journal of human genetics. Brasil. 9, (1) 334-.
  167. Health Sciences Genetics (clinical)
    C A 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. European journal of human genetics. Brasil. 9, (1) 174-.
  168. Life Sciences Neurology
    Débora Romeo BERTOLA; C A KIM; S M SUGAYAMA; C Y UTAGAWA; L M ALBANO et al. 2000. Further delineation of char syndrome. International pediatrics. 42, (1) 85-88.
  169. Life Sciences Genetics
    Débora Romeo BERTOLA; C A KIM; S M SUGAYAMA; L M 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, (3) 218-221.
  170. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; C A KIM; M F BARBA; L M J ALBANO; Débora Romeo 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. Brasil. 33, 241-247.
  171. Life Sciences Genetics
    S M M SUGAYAMA; C A KIM; K T ABE; L M J ALBANO; Débora Romeo 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.
  172. Health Sciences Medicine (miscellaneous)
    S M M SUGAYAMA; C A KIM; M K INOUE; C UTAGAWA; Débora Romeo BERTOLA et al. 2000. Importância do teste do cianeto-nitroprussiato para o diagnóstico da homocistinúria. Jornal brasileiro de patologia clínica. Brasil. 36, (3) 157-160.
  173. Life Sciences Genetics
    S M SUGAYAMA; Débora Romeo BERTOLA; L M J ALBANO; A MANISSADJIAN; E A BITTENCOURT et al. 2000. Síndrome de pallister killian ou tetrassomia do braço curto do cromossomo 12 em mosaico: relato de dois casos diagnosticados o pela hibridização in situ por fluoresceína (fish). Pediatria (usp). Brasil. 22, (3) 255-263.
  174. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; C A KIM; S M M SUGAYAMA; L M J ALBANO; J WAGENFUR et al. 2000. Cardiac findings in 31 patients with noonan's syndrome. Arquivos brasileiros de cardiologia. Brasil. 75, (5) 409-412.
  175. Health Sciences Neurology (clinical)
    L M J ALBANO; M ZATZ; C A KIM; Débora Romeo BERTOLA; S M M SUGAYAMA et al. 2000. Clinical and molecular aspects of 25 brazilian friedreich's ataxia patients. American journal of human genetics. Brasil. 67, (4) 409-.
  176. Health Sciences Neurology (clinical)
    C A 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-.
  177. Life Sciences Neurology
    S M M SUGAYAMA; L SÁ; Débora Romeo 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. Suiça. 67, (4) 123-.
  178. Life Sciences Neurology
    Débora Romeo BERTOLA; C A 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. Suiça. 67, (4) 118-.
  179. Life Sciences Genetics
    L M J ALBANO; S S M M SUGAYAMA; Débora Romeo BERTOLA; C E F ANDRADE; C Y UTAGAWA et al. 2000. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Revista do hospital das clínicas (fmusp). Brasil. 55, (6) 213-218.
  180. Health Sciences Medicine (miscellaneous)
    Utagawa C Y; Kim C A; Sugayama S M M; Débora Romeo BERTOLA; Oliveira L A N et al. 1999. Dysostosis spondylocostal: a clinical study of 14 patients. American journal of human genetics. Brasil. 65, (4) 347-.
  181. Life Sciences Genetics
    Sugayama S M M; Chauffaille M L F; Abe K T; Albano L M J; Débora Romeo BERTOLA et al. 1999. Clinical study and use of fish analysis to diagnostic approach of brazilian patients with williams-beuren syndrome. American journal of human genetics. Estados Unidos. 65, (4) 345-.
  182. Life Sciences Genetics
    Castro C I E; Débora Romeo BERTOLA; Sugayama S M M; Kim C A; Koiffmann C P. 1999. Cromossomo 4 em anel: estrutura e correlação genótipo-fenótipo. Genetics and molecular biology. Brasil. 22, (3) 129-130.
  183. Health Sciences General Medicine
    Borovick C L; Bitencourt E A; Silva A P M; Kim C A; Sugayama S M M et al. 1999. Síndrome de pallister-killian: detecção do i (12p) por fish em mucosa oral. Genetics and molecular biology. Brasil. 22, 567-.
  184. Life Sciences Genetics
    Débora Romeo BERTOLA; S M M SUGAYAMA; L M J ALBANO; A K CHONG; C H GONZALEZ. 1999. Noonan syndrome: a clinical and genetic study of 31 patients. Revista do hospital das clínicas (fmusp). Brasil. 54, (5) 147-150.
  185. Health Sciences Medicine (miscellaneous)
    L M J ALBANO; A C KIM; V K LEE; S M M SUGAYAMA; M F BARBA et al. 1999. Clinical and radiological aspects in melnick-needles syndrome. Revista do hospital das clínicas (fmusp). Brasil. 54, (2) 69-72.
  186. Life Sciences Genetics
    Sugayama S M M; Kim C A; Albano L M J; Débora Romeo BERTOLA; Utagawa C et al. 1998. Natural hystory of 24 patients with trisomy 18 and 20 patients with trisomy 13. American journal of human genetics. Estados Unidos. 63, (4) 151-.
  187. Life Sciences Genetics
    Débora Romeo BERTOLA; Whittle M R; Borovik C L; Sugayama S M M; Koda Y K L et al. 1998. Diploid-triploid mosaicism: discordant phenotype in monozygotic twins. American journal of human genetics. Estados Unidos. 63, (4) 126-.
  188. Life Sciences Neurology
    Utagawa C Y; Kim C A; Sugayama S M M; Débora Romeo BERTOLA; Marques Dias M J et al. 1998. Door syndrome: the first brazilian report with an autosomal recessive form. American journal of human genetics. Estados Unidos. 63, (4) 123-.
  189. Life Sciences Neurology
    Débora Romeo BERTOLA; L M WOLF; H V TORIELLO; M L NETZLOFF. 1997. Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder. American journal of medical genetics. 73, (4) 442-446.
  190. Health Sciences Medicine (miscellaneous)
    Andrade C E F; Sugayama S M M; Utagawa C Y; Débora Romeo BERTOLA; Banwart D et al. 1996. Anomalia de kleeblattschadel ou do crânio em trevo: etiologia em discussão. Revista brasileira de genetica (suplemento). Brasil. 19, (3) 289-.
  191. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Utagawa C Y; Sugayama S M M; Ribeiro E M; Débora Romeo BERTOLA; Baba E R et al. 1996. Infantil sialic acid storage disease. Revista brasileira de genetica (suplemento). Brasil. 19, (2) 670-.
  192. Health Sciences Genetics (clinical)
    Sugayama S M M; Utagawa C Y; Débora Romeo BERTOLA; Giugliani R; Burin M G et al. 1996. Galactosialidosis in a 18 year old brazilian boy. Brazilian journal of genetics. Brasil. 19, (2) 669-.
  193. Social Sciences & Humanities Psychology (miscellaneous)
    Débora Romeo BERTOLA; Domingues E Z; Utagawa S M M; Andrade C E F; Kim C A et al. 1995. Síndrome de rothmund-thomson: descrição de caso. Revista brasileira de genetica (suplemento). Brasil. 18, (3) 531-.
  194. Life Sciences Genetics
    Andrade C E F; Utagawa C Y; Débora Romeo BERTOLA; Porta G; Miura I R et al. 1995. Estudo citogenético de 9 pacientes com síndrome de alagille. Revista brasileira de genetica (suplemento). Brasil. 18, (3) 534-.
  195. Social Sciences & Humanities Psychology (miscellaneous)
    Utagawa C Y; Débora Romeo BERTOLA; Sugayama S M M; Machado L; Kim C A et al. 1995. Deficiência intersticial do braço longo do cromossomo 12(12q21) associada a retardo mental. Revista brasileira de genetica (suplemento). Brasil. 17, (3) 259-.
  196. Health Sciences Medicine (miscellaneous)
    Kim C A; Utagawa C Y; Sugayama S M M; Débora Romeo BERTOLA; Andrade C E F et al. 1995. Deficiência distal do braço longo do cromossomo 13 associada a holoprosencefalia. Revista brasileira de genetica (suplemento). Brasil. 17, (3) 260-.
  197. Social Sciences & Humanities Language and Linguistics
    Utagawa C Y; Débora Romeo BERTOLA; Sugayama S M M; Li H Y; Kim C A et al. 1995. Condrodsplasia metafisária tipo jansen: relato de caso e revisão de literatura. Revista brasileira de genetica (suplemento). Brasil. 17, (3) 334-.
  198. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; Domingues E C; Utagawa C Y; Sugayama S M M; Kim C A et al. 1995. Síndrome de blefarofimose; ptose e epicanto inverso:estudo de dois casos. Revista brasileira de genetica (suplemento). Brasil. 17, (3) 242-.
  1. Health Sciences Pediatrics
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA. 2019. Distúrbios genéticos e o pediatra. In: Distúrbios genéticos e o pediatra. Brasil.
  2. Life Sciences Genetics
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA. 2019. Avaliação genética. In: Avaliação genética. Brasil.
  3. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA. 2019. Aconselhamento genético. In: Aconselhamento genético. Brasil.
  4. Health Sciences Psychiatry and Mental Health
    Chong Ae KIM; Lílian Maria José ALBANO; Débora Romeo BERTOLA. 2019. Anomalias da morfogênese. In: Anomalias da morfogênese. Brasil.
  5. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA. 2019. Classificação das doenças genéticas. In: Classificação das doenças genéticas. Brasil.
  6. Health Sciences General Medicine
    Chong Ae KIM; Lílian M J ALBANO; Débora Romeo BERTOLA. 2019. Alterações faciais importantes. In: Alterações faciais importantes. Brasil.
  7. Health Sciences Medicine (miscellaneous)
    Rachel S HONJO; Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA; Soares Diogo Cordeiro De QUEIROZ. 2019. Cardiopatias sindrômicas. In: Cardiopatias sindrômicas. Brasil.
  8. Social Sciences & Humanities Psychology (miscellaneous)
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA. 2019. Aberrações dos cromossomos sexuais. In: Aberrações dos cromossomos sexuais. Brasil.
  9. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Lílian M J ALBANO; Débora Romeo BERTOLA; Quaio Caio ROBLEDO. 2019. Alterações da pele e do tecido conectivo. In: Alterações da pele e do tecido conectivo. Brasil.
  10. Health Sciences Psychiatry and Mental Health
    Chong Ae KIM; Lílian M J ALBANO; Débora Romeo BERTOLA; Quaio Caio ROBLEDO. 2019. Síndromes com baixa estatura. In: Síndromes com baixa estatura. Brasil.
  11. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA; Quaio Caio ROBLEDO. 2019. Síndromes com obesidade. In: Síndromes com obesidade. Brasil.
  12. Health Sciences Medicine (miscellaneous)
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA; Yamamoto Guilherme L. 2019. Alterações do esqueleto. In: Alterações do esqueleto. Brasil.
  13. Health Sciences Geriatrics and Gerontology
    Chong Ae KIM; Lilian M J ALBANO; Débora Romeo BERTOLA. 2019. Envelhecimento precoce. In: Envelhecimento precoce. Brasil.
  14. Life Sciences Genetics
    Passos Bueno Maria Rita Dos SANTOS; Roberto D FANGANIELLO; Débora Romeo BERTOLA; Sertié AL. 2017. Mecanismos de doenças genéticas. In: Mecanismos de doenças genéticas. Brasil.
  15. Life Sciences Genetics
    A K CHONG; L M ALBANO; Débora Romeo BERTOLA. 2008. Baixa estatura por aberrações cromossômicas; doenças gênicas e displasias esqueléticas. In: Diagnóstico diferencial em pediatria. Brasil.
  16. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; L M ALBANO; A K CHONG. 2008. Síndromes genéticas e cardiopatia. In: Bases moleculares das doenças cardiovasculares. Brasil.
  17. Health Sciences Medicine (miscellaneous)
    Débora Romeo BERTOLA; L M ALBANO; A K CHONG. 2005. Síndromes genéticas e cardiopatias. In: Tratado de cardiologia. Brasil.
  18. Life Sciences Neuroscience (miscellaneous)
    Marcelo VALENTE; Kette Dualibi Ramos VALENTE; Débora Romeo BERTOLA. 2004. Neuroimagem e genética na avaliação das malformações do snc. In: Paralisia cerebral. Brasil.
  19. Health Sciences Medicine (miscellaneous)
    C A KIM; Débora Romeo BERTOLA; S M SUGAYAMA. 2002. Doenças monogênicas ou mendelianas. In: Endocrinologia pediátrica: aspectos físicos e metabólicos do recém-nascido. Brasil.
  1. Health Sciences Genetics (clinical)
    Chong Ae KIM; Lílian Maria José ALBANO; Débora Romeo BERTOLA. 2019. Genética na prática pediátrica. Brasil.
  2. Health Sciences Genetics (clinical)
    A C KIM; L M J ALBANO; Débora Romeo BERTOLA. 2010. Genética na prática pediátrica. Brasil.