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	Provedor de dados Genet. Mol. Biol. (2) Autor Bertuzzo,Carmen Sílvia (2) Pinto Júnior,Walter (2) Baptista,Maria T.M. (1) Bonadia,Luciana Cardoso (1) Brandalise,Silvia (1) Carneiro,Jorge David Aivazoglu (1) Costa,Fernando Ferreira (1) Figueiredo,Maria Estela (1) Lemos-Marini,Sofia H.V. (1) Lima,Carmen Silvia Passos (1) Llerena Jr.,Juan Clinton (1) Lourenço,Gustavo Jacob (1) Rodriguez,David Enrique Aguilar (1) Santos,Kelly (1) Tone,Luiz Gonzaga (1) Toscano,Raquel Alves (1) Mais... Palavra-chave Chromosomal non-disjunction (1) DEB test (1) FANCA (1) FANCC (1) Fanconi anaemia (1) MTHFR gene (1) Molecular diagnosis (1) Turner syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2006 (1) 2005 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última 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 Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia Genet. Mol. Biol. Rodriguez,David Enrique Aguilar; Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Figueiredo,Maria Estela; Carneiro,Jorge David Aivazoglu; Tone,Luiz Gonzaga; Llerena Jr.,Juan Clinton; Toscano,Raquel Alves; Brandalise,Silvia; Pinto Júnior,Walter; Costa,Fernando Ferreira; Bertuzzo,Carmen Sílvia. Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Fanconi anaemia; DEB test; Molecular diagnosis; FANCA; FANCC. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004 Registros recuperados: 2 Primeira ... 1 ... Última

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