Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados Genet. Mol. Biol. (2) Autor Brunoni,Decio (2) Carvalho,Antonio Carlos C. (1) Cernach,Mirlene C.S.P. (1) Cernach,Mirlene Cecília S. Pinho (1) Galera,Marcial Francis (1) Lederman,Henrique Manoel (1) Patrício,Francy Reis da S. (1) Perez,Ana Beatriz A. (1) Porto,Marianna P.R. (1) Vergani,Naja (1) Mais... Palavra-chave Congenital heart disease (1) GATA gene (1) Holt-Oram syndrome (1) Mutation analysis (1) NKX2.5 gene (1) TBX5 gene (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2010 (1) 1998 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias Genet. Mol. Biol. Galera,Marcial Francis; Patrício,Francy Reis da S.; Cernach,Mirlene Cecília S. Pinho; Lederman,Henrique Manoel; Brunoni,Decio. Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families. Specific diagnosis was confirmed in 16 cases. Nosologic diagnosis was done through clinical evaluation. However, the most efficient method for verifying the diagnosis was a skeletal radiological study. This fact corroborates the orientation of the International Classification of Osteochondrodysplasias (International Working Group on Constitutional Disease of Bone, 1992) in which a radiological criterion was adopted as the most relevant for classification of osteochondrodysplasias. An anatomopathological study was also... Tipo: Info:eu-repo/semantics/article Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200017 Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome Genet. Mol. Biol. Porto,Marianna P.R.; Vergani,Naja; Carvalho,Antonio Carlos C.; Cernach,Mirlene C.S.P.; Brunoni,Decio; Perez,Ana Beatriz A.. The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8) or atypical HOS (1), isolated congenital heart defects (16) or isolated upper-limb malformations (7). Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G > T) in typical patients, and the hotspot mutation c.835C > T in two patients, one of them with... Tipo: Info:eu-repo/semantics/article Palavras-chave: Holt-Oram syndrome; Congenital heart disease; TBX5 gene; GATA gene; NKX2.5 gene; Mutation analysis. Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006 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