Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Bitencourt,M.A. (1) Carrasco,Mercedes (1) Diego,Yolanda de (1) Hmadcha,Abdelkrim (1) Jeng,M. (1) Lucas,Miguel (1) Magdalena,N. (1) Moron,Francisco (1) Pasquini,R. (1) Pereira,N.F. (1) Pilonetto,D.V. (1) Pintado,Elizabeth (1) Ribeiro,R.C. (1) Mais... Palavra-chave Genetic screening (2) 3788-3790del mutation (1) CGG repeats (1) FANCA (1) Fanconi anemia (1) Fragile X syndrome (1) Mental retardation (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2005 (1) 2002 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation BJMBR Magdalena,N.; Pilonetto,D.V.; Bitencourt,M.A.; Pereira,N.F.; Ribeiro,R.C.; Jeng,M.; Pasquini,R.. Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained... Tipo: Info:eu-repo/semantics/article Palavras-chave: Fanconi anemia; FANCA; 3788-3790del mutation; Genetic screening. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000500003 Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain Genet. Mol. Biol. Diego,Yolanda de; Hmadcha,Abdelkrim; Moron,Francisco; Lucas,Miguel; Carrasco,Mercedes; Pintado,Elizabeth. Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA). Similar to other south European populations, allele 2 (25 CA) at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion. Tipo: Info:eu-repo/semantics/article Palavras-chave: Mental retardation; Fragile X syndrome; CGG repeats; Genetic screening. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100002 Registros recuperados: 2 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