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Molecular genetics study of deafness in Brazil: 8-year experience
(Wiley-lissHobokenEUA, 2007)
Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness
(Elsevier Science BvAmsterdamHolanda, 2004)
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
(NATURE PUBLISHING GROUP, 2008)
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred ...
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients
(Blackwell MunksgaardCopenhagenDinamarca, 2002)
Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
(2013)
Hearing loss is the most common inherited sensorial defi ciency in humans; about 1 in 1000 children suff er from severe or profound hearing
loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, ...
Screening Of Genetic Alterations Related To Non-syndromic Hearing Loss Using Massarray Iplex (r) Technology
(BIOMED CENTRAL LTDLONDON, 2015)
Connexin 26 35delG does not represent a mutational hotspot
(SpringerNew YorkEUA, 2003)
Single Nucleotide Polymorphisms Of The Gjb2 And Gjb6 Genes Are Associated With Autosomal Recessive Nonsyndromic Hearing Loss
(HINDAWI PUBLISHING CORPORATIONNEW YORK, 2015)
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
(BioMed Central, 2018)
Abstract
Background
Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar ...
A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
(Associação Brasileira de Divulgação Científica, 2009)
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound ...