Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
about
C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsGJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewA genotype-phenotype correlation for GJB2 (connexin 26) deafness.Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.GJB2 mutations and degree of hearing loss: a multicenter study.Detection of mutations in genes associated with hearing loss using a microarray-based approach.Connexinopathies: a structural and functional glimpsePrioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic DeafnessDo cell junction protein mutations cause an airway phenotype in mice or humans?GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Comparative insights using the molecular homology model of BDNF (Brain derived neurotrophic factor) of Varanus komodoensis and the known NGF (Nerve growth factor) structure of Naja atra.A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.Characterization of a novel water pocket inside the human Cx26 hemichannel structure.Phenotypes of two Dutch DFNA3 families with mutations in GJB2.Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.Exploring the clinical and epidemiological complexity of GJB2-linked deafness.Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysisA novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban familyCompound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma
P2860
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P2860
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@en
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@nl
type
label
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@en
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@nl
prefLabel
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@en
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@nl
P2093
P356
P1476
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
@en
P2093
A Hirst-Stadlmann
G Utermann
H J Menzel
P2888
P304
P356
10.1038/SJ.EJHG.5200607
P577
2001-03-01T00:00:00Z