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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. Estados Unidos.

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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.

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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. Brasil.

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.

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.

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.

Roberta Lelis DUTRA; Raquel HONJO; Debora Romeo BERTOLA; Leslie Domenici KULIKOWSKI; Jehee Fernanda M S et al. 2011. Microsatellite markers and multiplex ligation-dependent probe amplification (mlpa): diagnosis tests for williams-beuren syndrome. Inglaterra.

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.

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.

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.

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.

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.

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). Suécia.

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. Suécia.

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.

L A PRAXEDES; F M PEREIRA; J F MAZZEU; Silvia S COSTA; Bertola D R et al. 2010. An illustrative case of neurofibromatosis type 1 and nf1 microdeletion. Molecular syndromology. 1, 133-135.

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.

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.

Erica Regina MOTA; Débora Romeo BERTOLA; Chong Ae KIM; Maria Cristina Triguero Veloz TEIXEIRA. 2010. Alterações comportamentais na síndrome de noonan: dados preliminares brasileiros. Revista latinoamericana de psicología. 42, 87-96.

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.

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.

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. Suécia.

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.

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.

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.

Hs HONJO; Erasmo Barbante CASELLA; Maria Aparecida VIEIRA; Debora R BERTOLA; Lilian M ALBANO et al. 2009. Spondylocostal dysostosis associated with methylmalonic aciduria. Genetic testing and molecular biomarkers (print). 2009, 181-184.

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.

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.

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.

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.

Débora Romeo BERTOLA; L M ALBANO; A K CHONG. 2008. Síndromes genéticas e cardiopatia. In: Bases moleculares das doenças cardiovasculares. Brasil.

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.

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. França.

D R BERTOLA; G PORTA; M P GONÇALVES; S R CARDOSO; L SUZUKI et al. 2007. Hepatic involvement in cockayne syndrome type a. França.

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.

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.

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. França.

BERTOLA; Jose Eduardo KRIEGER; Alexandre Da Costa PEREIRA; Brasil AS; Albano LM et al. 2007. Further evidence of genetic heterogeneity in costello syndrome: involvement of the kras gene. Journal of human genetics (print). 52, 521-526.

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. Brasil.

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. Brasil.

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. Brasil.

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. Brasil.

Débora R BERTOLA; Jose Eduardo KRIEGER; A C PEREIRA; Lilian Maria José ALBANO; De Oliveira PS et al. 2006. Ptpn11</i> gene analysis in 74 brazilian patients with noonan syndrome or noonan-like phenotype. Genetic testing (cessou em 2008. cont. issn 1945-0265 genetic testing and molecular biomarkers). 10, 186-191.

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?. Brasil.

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. Brasil.

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.

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. Brasil.

A C Krepischi SANTOS; Angela Maria Vianna MORGANTE; F S JEHEE; Maria Rita Passos 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 (online). 115, 254-261.

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.

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. Brasil.

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. Brasil.

Débora Romeo BERTOLA; C H GONZALEZ. 2005. Associação das seqüências de poland e möebius em uma paciente. Brasil.

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. Brasil.

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. Estados Unidos.

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. Brasil.

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). Espanha.

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. Estados Unidos.

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.

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. Estados Unidos.

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. Brasil.

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. Espanha.

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. Estados Unidos.

Bertola DR; Jose Eduardo KRIEGER; A C PEREIRA; Passetti F; Paulo S L OLIVEIRA 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, (3) 242-245.

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. Estados Unidos.

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. Estados Unidos.

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. Brasil.

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). Brasil.

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.

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. Brasil.

Débora R BERTOLA; Jose Eduardo KRIEGER; A C PEREIRA; Paulo S L OLIVEIRA; Chong Ae KIM. 2004. Clinical variability in a noonan syndrome family with a newptpn11 gene mutation. American journal of medical genetics (print) (cessou em 2002. foi desdobrado em três: issn 1552-4825; 1552-4841 e 1552-4868). 130A, (A) 378-383.

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.

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.

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?. Estados Unidos.

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. Brasil.

C A KIM; A C PAULA; D R BERTOLA; L TOMA; Roberto GIUGLIANI et al. 2003. Clinical and laboratorial study of 26 brazilian cases of mucopolysaccharidoses. Espanha.

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.

A C 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 (s.maroteaux-lamy). Brasil.

A C PAULA; D R BERTOLA; L M J ALBANO; M J FABRE; A N OLIVEIRA et al. 2003. S. morquio x s. dyggve-melchior-clausen. Brasil.

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. Brasil.

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-.

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.

S M M SUGAYAMA; Claudio LEONE; Vera KOCH; E A FURUSAWA; D R BERTOLA et al. 2002. Proposta de sistema de pontuação (score) para diagnóstico clínico da síndrome de williams-beuren. Brasil.

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. Brasil.

Paula A C; Tupinambá A L F; Vallada M G; Marques H S; Vidolim E et al. 2002. Síndrome diencefálica x lipoatrofias: diagnóstico diferencial. Brasil.

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). Brasil.

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. Brasil.

BERTOLA; C A KIM; A C PEREIRA; Gloria F A MOTA; Jose Eduardo KRIEGER et al. 2001. Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?. American journal of medical genetics. 98, (3) 230-234.

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. Brasil.

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. Brasil.

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-.

L M J ALBANO; S S M M SUGAYAMA; D R BERTOLA; C E F ANDRADE; C Y UTAGAWA et al. 2000. Clinical and laboratorial study of 19 cases of mucopolysaccharidosis. Revista do hospital das clínicas da faculdade de medicina de são paulo. Brasil. 55, (6) 213-218.

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.

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.

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.

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.

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.

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-.

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-.

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.

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. Estados Unidos.

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. Brasil.

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. Brasil.

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. Brasil.

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. Brasil.

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.

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. Brasil.

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.

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. Brasil.

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?. Brasil.

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. Brasil.

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.

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.

Maria Isabel MELARAGNO; Vera MELONI; Kim Chong AE; Denise CHRISTOFOLINI; Luis Garcia ALONSO et al. 2011. Mechanisms of ring chromosome formation. Suécia.

Mesquita Maria Luiza G DE; Brunoni DÉCIO; Pina Neto João Monteiro DE; Kim Chong AE; Melo Márcia Helena S et al. 2010. Fenótipo comportamental de crianças e adolescentes com síndrome de prader-willi. Revista paulista de pediatria (impresso). 28, 63-69.

Mazzeu Juliana FORTE; Pardono ELIETE; Vianna Morgante Angela M; Richieri Costa ANTÔNIO; Ae Kim CHONG et al. 2007. Clinical characterization of autosomal dominant and recessive variants of robinow syndrome. American journal of medical genetics. part a. 143A, 320-325.

Nara SOBREIRA; Jbili R; Decio BRUNONI; Vera MELONI. 2004. Condrodisplasia metafisária tipo jansen: relato de caso e revisão da literatura. Brasil.

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.

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.

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.

Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Filipe Andrade BERNARDI et al. 2022. Epidemiology of rare diseases in brazil: protocol of the brazilian rare diseases network (raras-brdn). Orphanet journal of rare diseases. 17, 1-13.

Osório Ana Alexandra CALDAS; Do Egito Júlia Horta TABOSA; Martins Gabriela CARNEIRO; Kim Chong AE; Honjo Rachel SAYURI et al. 2017. Associations between fetal testosterone and pro-social tendencies; anxiety and autistic symptoms in williams syndrome: a preliminary study. International journal of developmental disabilities. 27, 1-7.

Hs HONJO; Erasmo Barbante CASELLA; Maria Aparecida VIEIRA; Debora R BERTOLA; Lilian M ALBANO et al. 2009. Spondylocostal dysostosis associated with methylmalonic aciduria. Genetic testing and molecular biomarkers (print). 2009, 181-184.

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. Ucrânia.

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.

Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Filipe Andrade BERNARDI et al. 2022. Epidemiology of rare diseases in brazil: protocol of the brazilian rare diseases network (raras-brdn). Orphanet journal of rare diseases. 17, 1-13.

Michelle M NUNES; Rachel S HONJO; R L DUTRA; Vas 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.

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.

Sato H K; Sanajotta A T; José Cassio De MORAES; Andrade J Q; Geraldo DUARTE et al. 2011. Rubella vaccination of unknowingly pregnant women: the sao paulo experience; 2001. The journal of infectious diseases. 204, S737-S744.

Strafacci Amanda De Sousa LIMA; Bertapelli FABIO; Chong Ae KIM; Rivadeneira Maria JOSÉ; Honjo Rachel SAYURI et al. 2024. Brazilian growth charts for williams-beuren syndrome at ages 2 to 18 years. Jornal de pediatria. epub, epub-.

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.

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?. Estados Unidos.

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.

Sbruzzi Ivanete C; Pereira Alexandre C; Vasconcelos BEATRIZ; Honjo Raquel S; Jose Eduardo KRIEGER et al. 2010. Williams-beuren syndrome: diagnosis by polymorphic markers. Genetic testing and molecular biomarkers (print). 14, 209-214.

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.

BERTOLA; Jose Eduardo KRIEGER; Alexandre Da Costa PEREIRA; Brasil AS; Albano LM et al. 2007. Further evidence of genetic heterogeneity in costello syndrome: involvement of the kras gene. Journal of human genetics (print). 52, 521-526.

Débora R BERTOLA; Jose Eduardo KRIEGER; A C PEREIRA; Lilian Maria José ALBANO; De Oliveira PS et al. 2006. Ptpn11</i> gene analysis in 74 brazilian patients with noonan syndrome or noonan-like phenotype. Genetic testing (cessou em 2008. cont. issn 1945-0265 genetic testing and molecular biomarkers). 10, 186-191.

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