Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados Genet. Mol. Biol. (3) Autor Fridman,Cintia (2) Gomes,Marcus Vinícius de Matos (1) Koiffmann,Célia P. (1) Koiffmann,Célia Priszkulnik (1) Marques-Dias,Maria J. (1) Ramos,Ester Silveira (1) Santos,Sílvio Avelino dos (1) Valente,Kette (1) Varela,Monica C. (1) Varela,Monica Castro (1) Mais... Palavra-chave Uniparental disomy (3) Angelman syndrome (2) Genomic imprinting (2) 15q deletion (1) Beckwith-Wiedemann syndrome (1) DNA methylation (1) Diagnosis (1) H19DMR (1) Isolated hemihyperplasia (1) Macrocephaly (1) Macrosomy (1) Prader-Willi syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Info:eu-repo/semantics/other (1) Ano 2005 (1) 2002 (2) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation Genet. Mol. Biol. 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 H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia Genet. Mol. Biol. Gomes,Marcus Vinícius de Matos; Santos,Sílvio Avelino dos; Ramos,Ester Silveira. Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. The cause of isolated hemihyperplasia (IHH) is unknown but might be due to partial or incomplete expression of BWS because both these conditions share predisposition for the same types of neoplasias. We investigated the methylation pattern of the putative imprinting control region H19DMR using peripheral blood from 12 patients, six with clinical features of BWS and six with IHH. All the patients had normal karyotypes and paternal uniparental disomy (UPD) was excluded in 10 informative cases. The normal H19DMR methylation pattern was found in eight informative patients, indicating that H19DMR methylation... Tipo: Info:eu-repo/semantics/other Palavras-chave: Beckwith-Wiedemann syndrome; Isolated hemihyperplasia; Genomic imprinting; DNA methylation; Uniparental disomy; H19DMR. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200005 Phenotypic and behavioral variability within Angelman Syndrome group with UPD Genet. Mol. Biol. 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: 3 Primeira ... 1 ... Última

Empresa Brasileira de Pesquisa Agropecuária - Embrapa Todos os direitos reservados, conforme Lei n° 9.610 Política de Privacidade Área restrita		Embrapa Parque Estação Biológica - PqEB s/n° Brasília, DF - Brasil - CEP 70770-901 Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC: https://www.embrapa.br/fale-conosco