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	Provedor de dados 74 (2) Autor Fridman,Cintia (2) Koiffmann,Célia P. (1) Koiffmann,Célia Priszkulnik (1) Marques-Dias,Maria J. (1) Valente,Kette (1) Varela,Monica C. (1) Varela,Monica Castro (1) Mais... Palavra-chave Angelman syndrome (2) Uniparental disomy (2) 15q deletion (1) Diagnosis (1) Genomic imprinting (1) Macrocephaly (1) Macrosomy (1) Prader-Willi syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2002 (2) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation 74 Varela,Monica Castro; Fridman,Cintia; Koiffmann,Célia Priszkulnik. Seventy-two patients with clinical diagnoses of Prader-Willi (PWS; n = 28 patients) or Angelman syndromes (AS; n = 44 patients) were submitted to chromosome analysis, SNRPN-SNURF exon 1 methylation assay, and microsatellite genotyping. Analysis of the methylation pattern confirmed the PWS diagnosis in 18 out of 28 patients and the AS diagnosis in 20 out of 44 patients. FISH and microsatellite analysis detected a deletion in 30 patients (14 PWS and 16 AS). Eight patients had normal FISH results (4 PWS and 4 AS); microsatellite markers showed that these patients had a uniparental disomy (UPD). Based on this study, we propose a strategy for the routine diagnosis of these syndromes that consists of the following steps: 1) methylation analysis, which does not... Tipo: Info:eu-repo/semantics/article Palavras-chave: Angelman syndrome; Prader-Willi syndrome; Diagnosis; 15q deletion; Uniparental disomy; Genomic imprinting. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100003 Phenotypic and behavioral variability within Angelman Syndrome group with UPD 74 Fridman,Cintia; Varela,Monica C.; Valente,Kette; Marques-Dias,Maria J.; Koiffmann,Célia P.. The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral variability detected in eight UPD patients out of a group of 58 AS patients studied. All of them presented developmental delay, mental retardation, ataxia, speech impairment, and frequent drooling. Only one had microcephaly, whereas in two of them the OFC (head circumference) was above the 98th percentile. The weight of all patients was above the 50th percentile, and in three of them the height was above the 90th percentile. Three were able to say a few words and to... Tipo: Info:eu-repo/semantics/article Palavras-chave: Angelman syndrome; Uniparental disomy; Macrosomy; Macrocephaly. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002 Registros recuperados: 2 Primeira ... 1 ... Última

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