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	Provedor de dados Genet. Mol. Biol. (2) Autor Bonadia,Luciana Cardoso (2) Baptista,Maria T.M. (1) Bertuzzo,Carmen Sílvia (1) Cavalcanti,Denise Pontes (1) Kanazawa,Thatiane Yoshie (1) Lemos-Marini,Sofia H.V. (1) Pinto Júnior,Walter (1) Santos,Kelly (1) Mais... Palavra-chave Chromosomal non-disjunction (1) F384L (1) FGFR3 (1) Hypochondroplasia (1) MTHFR gene (1) Skeletal dysplasia (1) Turner syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2014 (1) 2006 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes Genet. Mol. Biol. Kanazawa,Thatiane Yoshie; Bonadia,Luciana Cardoso; Cavalcanti,Denise Pontes. Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ~70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p.F384L in exon 10, together with the suspicion that this second change could be a modulator of the phenotype, prompted us to investigate this hypothesis in a cohort of patients. An analysis of 48 patients with FGFR3 chondrodysplasia... Tipo: Info:eu-repo/semantics/article Palavras-chave: FGFR3; F384L; Hypochondroplasia; Skeletal dysplasia. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500003 Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals Genet. Mol. Biol. Santos,Kelly; Lemos-Marini,Sofia H.V.; Baptista,Maria T.M.; Bonadia,Luciana Cardoso; Pinto Júnior,Walter; Bertuzzo,Carmen Sílvia. Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C -> T and 1298A -> C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C -> T allele was 0.39 for patients and 0.29 for controls while that of the 1298A -> C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (chi2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C -> T /677C -> T... Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosomal non-disjunction; MTHFR gene; Turner syndrome. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100008 Registros recuperados: 2 Primeira ... 1 ... Última

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