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Investigating the cnvs in routine diagnostics using wes and array in brazilian patients.
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European human genetics conference.
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Molecular autopsy reveals clues for genetic basis of congenital valve defect .
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Estudo molecular de pacientes com anomalias de segmentação vertebral.
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Clinical features of 28 patients with presumptive diagnosis of pik3ca related overgrowth spectrum (pros) in a tertiary hospital in brazil.
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Ceratite herpetiforme e hiperqueratose palmoplantar: alerta para o diagnóstico de tirosinemia tipo ii.
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E A ZANARDO; T V M M COSTA; F B PIAZZON; A T DIAS; R L DUTRA et al.
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Challenges in the implantation of snp-arrays analysis in research and diagnostic.
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G M Novo FILHO; E A ZANARDO; R L DUTRA; F B PIAZZON; A T DIAS et al.
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The role of genomic copy number variation (cnvs) in congenital heart disease.
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Samantha V KELMANN; C R D C QUAIO; Nilton S Rosa NETO; Charles Marques LOURENÇO; Rute LELLIS et al.
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Estudo multicêntrico em diagnóstico da doença de fabry em registros de biópsias de angioqueratomas.
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Health Sciences
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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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Roberta L DUTRA; E A ZANARDO; G M Novo FILHO; M I MELARAGNO; Llerena Juan C et al.
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Estudo multicêntrico de diagnóstico molecular por mlpa em pacientes com múltiplas anomalias congênitas e deficiência intelectual.
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F B PIAZZON; A T DIAS; E A ZANARDO; R L DUTRA; M M MONTENEGRO et al.
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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.
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Humoral immune deficiency in patient with mucopolysaccharidoses type iv.
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Health Sciences
Cardiology and Cardiovascular Medicine
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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Health Sciences
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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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Biochemistry, Genetics and Molecular Biology (miscellaneous)
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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Biochemistry, Genetics and Molecular Biology (miscellaneous)
Diogo Cordeiro De Queiroz SOARES; Leuridan Cavalcante TORRES; L D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM.
2012.
Importante papel dos genes sna29; lztr1 e p2rxl1 na regulação da resposta imune de portadora de deleção atípica da região 22q11.2.
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Life Sciences
Neurology
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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Psychology (miscellaneous)
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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Neurology (clinical)
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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Life Sciences
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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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Physical Sciences
Biomedical Engineering
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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Neurology
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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Life Sciences
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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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Genetics (clinical)
Leuridan Cavalcante TORRES; Caio Robledo QUAIO; José FRANCO; Israel GOMY; Debora Romeo BERTOLA et al.
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Natural killer cell deficiency in patients with mucopolysaccharidoses.
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Itália.
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Health Sciences
Medicine (miscellaneous)
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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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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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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A C Zandoná TEIXEIRA; Roberta Lelis DUTRA; A T DIAS; E M VICENTE; E A ZANARDO et al.
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Estudo clínico e citogenético-molecular de um caso de síndrome de down atípico.
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Biochemistry, Genetics and Molecular Biology (miscellaneous)
G M Novo FILHO; E M VICENTE; A T DIAS; A C Zandoná TEIXEIRA; E A ZANARDO et al.
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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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Genetics
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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Biochemistry, Genetics and Molecular Biology (miscellaneous)
M M OLIVEIRA; T I MANCINI; S S TAKENO; A R N DUTRA; Perez A B A et al.
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Interpretação de arrays genômicos de pacientes com rearranjos cromossômicos aparentemente equilibrados.
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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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Social Sciences & Humanities
Neuropsychology and Physiological Psychology
Tatiana Ferreira ALMEIDA; Danilo Vicensotto BERNARDO; Debora Romeo BERTOLA; Chong Ae KIM.
2011.
Relação entre perímetro cefálico e estatura como indicadora de atraso neuropsicomotor ou deficiência intelectual em indivíduos com microcefalia.
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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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