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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Abreu-Silva,R.S. (1) Arbonés,Maria Lourdes (1) Braga,M.C.C. (1) Della-Rosa,V.A. (1) Estivill,Xavier (1) Lezirovitz,K. (1) López-Bigas,Núria (1) Mingroni-Netto,R.C. (1) Morales-Peralta,Estela (1) Otto,P.A. (1) Pirana,S. (1) Rabionet,Raquel (1) Spinelli,M. (1) Mais... Palavra-chave Hearing impairment (2) A1555G mutation (1) Connexin 26 (1) DFNA3 (1) European- and African- Brazilian patients (1) GJB2 (1) Mitochondrial DNA (1) TRNA Ser(UCN) mutations (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2006 (2) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients BJMBR Abreu-Silva,R.S.; Lezirovitz,K.; Braga,M.C.C.; Spinelli,M.; Pirana,S.; Della-Rosa,V.A.; Otto,P.A.; Mingroni-Netto,R.C.. Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNA Ser(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNA Ser(UCN) did not reveal reported pathogenic substitutions, namely A7445G,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Mitochondrial DNA; Hearing impairment; A1555G mutation; TRNA Ser(UCN) mutations; European- and African- Brazilian patients. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200008 A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family Genet. Mol. Biol. Rabionet,Raquel; Morales-Peralta,Estela; López-Bigas,Núria; Arbonés,Maria Lourdes; Estivill,Xavier. Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness. Tipo: Info:eu-repo/semantics/article Palavras-chave: Connexin 26; GJB2; DFNA3; Hearing impairment. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006 Registros recuperados: 2 Primeira ... 1 ... Última

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