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	Provedor de dados Genet. Mol. Biol. (2) BABT (1) Autor Ao,Liying (1) Arbonés,Maria Lourdes (1) Ding,Haitao (1) Estivill,Xavier (1) Liu,Yongzhi (1) López-Bigas,Núria (1) Morales-Peralta,Estela (1) Onsori,Habib (1) Rabionet,Raquel (1) Zhang,Dongli (1) Mais... Palavra-chave GJB2 (3) Connexin 26 (1) DFNA3 (1) Deletion Mutation (1) GJB3 (1) GJB6 (1) Hearing impairment (1) Hearing loss (1) Inner Mongolia (1) Iran (1) Mitochondrial DNA (1) SLC26A4 (1) Sensorineural hearing loss (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2016 (2) 2006 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL) BABT Onsori,Habib. Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with autosomal-recessive nonsyndromic hearing loss (ARNSHL) and in combination with a GJB2 mutation with digenic ARNSHL. The objective of this study was to screen for the del (GJB6-D13S1830) and del (GJB6-D13s1854) mutations in GJB6 gene in patients with ARNSHL from Iran, using multiplex PCR and direct sequencing methods. Agarose gel electrophoresis and DNA sequencing of amplified fragment of the PCR reaction... Tipo: Info:eu-repo/semantics/article Palavras-chave: Hearing loss; GJB6; GJB2; Deletion Mutation; Iran. Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132016000100311 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 Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region Genet. Mol. Biol. Liu,Yongzhi; Ao,Liying; Ding,Haitao; Zhang,Dongli. Abstract The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients. Pathogenic mutations were detected in 168 patients: 114 were homozygotes and 54 were compound heterozygotes. The 114 patients were carriers of only one mutated allele. The frequency of GJB2 variants in Han... Tipo: Info:eu-repo/semantics/article Palavras-chave: Sensorineural hearing loss; GJB2; SLC26A4; GJB3; Mitochondrial DNA; Inner Mongolia. Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400567 Registros recuperados: 3 Primeira ... 1 ... Última

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