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Estudo multicêntrico em diagnóstico da doença de fabry em registros de biópsias de angioqueratomas.
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Xxv congresso brasileiro de genética médica.
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Rachel S HONJO; Roberta L DUTRA; Leslie D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM.
2013.
Detecção da microdeleção 7q11.23 por mlpa e estudo clínico de pacientes em síndrome de williams-beurene.
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Estudo multicêntrico de diagnóstico molecular por mlpa em pacientes com múltiplas anomalias congênitas e deficiência intelectual.
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Passos diretos para o diagnóstico genético: diretrizes e algoritmo de investigação citogenômica em portadores de doenças raras.
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Diogo Cordeiro De Queiroz SOARES; Chong Ae KIM; Leuridan Cavalcante TORRES.
2013.
Humoral immune deficiency in patient with mucopolysaccharidoses type iv.
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Iv international symposium on primary immunodeficiencies.
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Leslie Domenici KULIKOWSKI; Evelin Aline ZANARDO; Roberta Lelis DUTRA; Flavia Balbo PIAZZON; Alexandre Torchio DIAS et al.
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Cytogenomic diagnosis of congenital heart diseases.
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9th european cytogenetics conference.
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A T DIAS; Roberta Lelis DUTRA; E A ZANARDO; F B PIAZZON; M B MOREIRA et al.
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Characterizing pervasive somatic mosaicism in pos-mortem tissues samples.
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Ii encontro pauslista de citogenética (epacito).
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E A ZANARDO; F PIAZZON; Roberta Lelis DUTRA; A T DIAS; M M OLIVEIRA et al.
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Complex genomic reorganization in 1p36 and molecular mechanisms for formation.
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Diogo Cordeiro De Queiroz SOARES; Leuridan Cavalcante TORRES; L D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM.
2012.
Importante papel dos genes sna29; lztr1 e p2rxl1 na regulação da resposta imune de portadora de deleção atípica da região 22q11.2.
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12o congresso brasileiro de alergia e imunologia em pediatria.
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G L YAMAMOTO; A BONALDI; A M Vianna MORGANTE; I GOMMY; Chong Ae KIM et al.
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External validation of the bartholdi clinical acoring system for silver russell syndrome: a report of a brazilian cohort.
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W A R BARATELA; T F ALMEIDA; G L YAMAMOTO; J H MARQUES; O LETAIL et al.
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Severe chst3 mutations in two brazilian families with spondyloepiphyseal dysplasia with congenital joint dislocations.
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62nd annual meeting of the american society of human genetics.
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C QUAIO; A S BRASIL; A C PEREIRA; Chong Ae KIM; Debora Romeo BERTOLA.
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Tegumentary manifestations in rasopathies are common and deserve special attentiono.
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E D F CARVALHO; M LAZAR; T F ALMEIDA; C R D C QUAIO; G L YAMAMOTO et al.
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Schinzel-giedion syndrome in two brazilian patients: report of a novel mutation in setbp1.
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T F ALMEIDA; D V BERNARDO; C R D C QUAIO; G L YAMAMOTO; E D F CARVALHO et al.
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Patterns of genetic expression in mental retardation associated or not with microcephaly.
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L D KULIKOWSKI; F PIAZZON; E ZANARDO; R DUTRA; A DIAS et al.
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Complex genomic reorganization in microdeletions/microduplications syndromes and molecular mechanisms for formation.
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F B PIAZZON; R DUTRA; E ZANARDO; A DIAS; M MOREIRA et al.
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Facing current diagnostic challenges in array copy number analysis.
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C D ANGELO; I KOHL; C De CASTRO; Chong Ae KIM; D R BERTOLA et al.
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Array-based copy number analysis in patients associating obesity and developmental delay/learning disabilities and additional features.
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J MAZZEU; H KAYSERILLI; Chong Ae KIM; D BRUNONI; P C PIERI et al.
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Novel ror2 mutations in patients with autosomal recessive robinow syndrome.
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E A FURUZAWA; Rachel S HONJO; C S LANETZKI; R L DUTRA; L D KULIKOWSKI et al.
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Hipertensão arterial e distúrbios miccionais em pacientes com síndrome de williams-beuren.
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Leuridan Cavalcante TORRES; Caio Robledo QUAIO; José FRANCO; Israel GOMY; Debora Romeo BERTOLA et al.
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15th esid biennial meeting.
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Leuridan Cavalcante TORRES; Diogo Cordeiro De Queiroz SOARES; Caio Robledo D C QUAIO; José FRANCO; Leslie Domenici KULIKOWSKI et al.
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Mucopolyssaccharidoses type iv: case of a patient with humoral response deficiency.
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15th esid biennial meeting.
Itália.
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Roberta Lelis DUTRA; Rachel Sayuri HONJO; Fernanda Andrade Macaferri FONSECA; Patrícia PIERI; D R BERTOLA et al.
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Microsatellite markers and multiplex ligation-dependent probe amplification (mlpa): diagnosis tests for williams-beuren syndrome.
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D R BERTOLA; G L YAMAMOTO; L A N OLIVEIRA; Chong Ae KIM; G NISHIMURA et al.
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Severe short-limb dwarfism resembling grebe chondrodysplasia: report of a third case of the teebi-al-awadi-opitz-spranger dysplasia and exclusion of gdf5 as the causative gene.
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Roberta Lelis DUTRA; F B PIAZZON; A T DIAS; M B MOREIRA; A C Zandoná TEIXEIRA et al.
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Diagnóstico citogenômico de um paciente com síndrome de williams-beuren e duplo y.
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E A ZANARDO; M B MOREIRA; A T DIAS; A C Zandoná TEIXEIRA; E M VICENTE et al.
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Duplicação 22q13.3 pura: estudo citogenético molecular e correlação genótipo-fenótipo.
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Estudo clínico e citogenético-molecular de um caso de síndrome de down atípico.
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Identificação de cromossomo marcador de novo derivado de 9p: estudo citogenético-molecular e correlação genótipo-fenótipo.
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E M VICENTE; G M Novo FILHO; E A ZANARDO; M B MOREIRA; A T DIAS et al.
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Duplicação parcial 7p envolvendo o gene twist associada a anormalidades esqueléticas:estudo citogenético-molecular.
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M B MOREIRA; E A ZANARDO; A T DIAS; A C Zandoná TEIXEIRA; E M VICENTE et al.
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Primeiro caso de cromossomo 10 derivado; herdado como produto de uma fissão centromérica materna.
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M M OLIVEIRA; T I MANCINI; S S TAKENO; A R N DUTRA; Perez A B A et al.
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Interpretação de arrays genômicos de pacientes com rearranjos cromossômicos aparentemente equilibrados.
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2a reunião brasileira de citogenética.
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L D KULIKOWSKI; A T DIAS; D M CHRISTOFOLINI; Roberta Lelis DUTRA; Chong Ae KIM et al.
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Citogenética molecular no diagnóstico de cromossomos marcadores supernumerários: utilização das técnicas de snp-array e mlpa.
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2a reunião brasileira de citogenética.
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Sociology and politics
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2011.
Relação entre perímetro cefálico e estatura como indicadora de atraso neuropsicomotor ou deficiência intelectual em indivíduos com microcefalia.
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Xxiii congresso brasileiro de genética médica.
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E D F CARVALHO; Israel GOMY; H C Menezes FILHO; A C A VILELA; M MOREIRA et al.
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Calcificação arterial generalizada da infância: relato de caso de um paciente em tratamento com pamidronato.
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Evelin Aline ZANARDO; Flavia B PIAZON; Gil M Novo FILHO; Roberta L DUTRA; Alexandre T DIAS et al.
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Recurrent infections in a patient with a 22q11.2 duplication detected by mlpa technique: a non pathogenic polymorphism or a real syndrome?.
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Debora Romeo BERTOLA; A S BRASIL; Alexander A L JORGE; A C MALAQUIAS; Luciana T WANDERLEY et al.
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Cardiac findings in 61 noonan syndrome patients with proven mutations in genes of the ras/mapk signaling pathway.
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Chong Ae KIM; Francisco B Assumpção JUNIOR; Rachel Sayuri HONJO; Roberta Lelis DUTRA; Vera A S AMARAL et al.
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High frequency of autistic traits in williams-beuren patients.
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Maria Isabel MELARAGNO; V A F MELONI; Chong Ae KIM; Rachel Sayuri HONJO; D M CHRISTOFOLINI et al.
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Mechanisms of ring chromosome formation.
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Isabel Mosca FURQUIM; Rachel Sayuri HONJO; C M LOURENÇO; T MAUAD; D R BERTOLA et al.
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First brazilian case of lysinuric protein intolerance (lpi).
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Dafne HOROVITZ; T P C MAGALHÃES; A ACOSTA; E M RIBEIRO; L GIUGLIANI et al.
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Enzyme replacement therapy in 25 mucopolyssaccharidosis type vi brazilian children under five years.
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G N LEAL; Ana Carolina PAULA; Chong Ae KIM.
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Replacement therapy in mucopolysaccharidosis typi vi: advantages of early onset of treatment regarding cardiac involvement.
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L D KULIKOWSKI; M YOSHIMOTO; C M MONMA; F T S BELLUCCO; S I N BELANGERO et al.
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Genotype-phenotype delineation of terminal deletions 18q demonstrating high phenotypic variability.
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F S JEHEE; D R BERTOLA; Chong Ae KIM; J F LUCATELLI; M R Passo BUENO.
2009.
Triagem de microdeleções e alterações subteloméricas por mlpa aumenta em 20% a detecção de anomalias cromossômicas em pacientes com malformações congênitas.
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Xxi congresso brasileiro de genética médica.
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I V SCHWARTZ; G K CURY; O ARTIGALÁS; U MATTE; Charles M LOURENÇO et al.
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Identificação de mutações no gene gnptab em pacientes brasileiros com mucolipidose ii e iii.
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Xxi congresso brasileiro de genética médica.
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Debora Romeo BERTOLA; C E A R AMARAL; Chong Ae KIM; M C MOREIRA; L M J ALBANO et al.
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Craniossinostose em picnodisostose: expansão dos achados craniofaciais.
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Xxi congresso brasileiro de genética médica.
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Síndrome de gorlin-goltz: relato de 5 casos.
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Cytogenetic and molecular study in patients identified by cgh array: a small (~2 mb) deletion in patients with 22q11.2 deletion syndrome.n.
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Caracterização e avaliação da instabilidade de cromossomos em anel.
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Dafne HOROVITZ; E M RIBEIRO; A ACOSTA; L GIUGLIANI; M KERSTENESTZY et al.
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D R BERTOLA; Reynaldo ANTEQUERA; Maria Juliana Rodovalho DORIQUI; Rachel Sayuri HONJO; L M J ALBANO et al.
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Brachyolmia with amelogenesis imperfecta:further evidence of a single entity.
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58th annual meeting of the american society of human genetics.
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