Connexin-26 mutations in sporadic and inherited sensorineural deafness
about
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseMolecular epidemiology of DFNB1 deafness in FranceThe Genetics of Deafness in Domestic AnimalsThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsGenetics of hearing and deafnessInner ear symptoms and disease: pathophysiological understanding and therapeutic optionsCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsGJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewGap junctions and cochlear homeostasisConnexin 26 mutations in autosomal recessive deafness disorders: a reviewGJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing LossThe Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese IndividualsSpectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Localization of septin proteins in the mouse cochlea.Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid.A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.Functional consequences of novel connexin 26 mutations associated with hereditary hearing lossRestoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.A genotype-phenotype correlation for GJB2 (connexin 26) deafness.A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genesTemporal bone histopathology in connexin 26-related hearing loss.Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.Beginning of a molecular era in hearing and deafness.Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child.Pathogenetic role of the deafness-related M34T mutation of Cx26.Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screenGenetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.Science, medicine, and the future: New interventions in hearing impairment.[Etiologic profile of severe and profound sensorineural hearing loss in children in the region of north-central Morocco].Autosomal recessive nonsyndromic hearing loss.GJB2 mutations and degree of hearing loss: a multicenter study.A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.Connexin mutations in skin disease and hearing loss.Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.
P2860
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P2860
Connexin-26 mutations in sporadic and inherited sensorineural deafness
description
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique The Lancet
@fr
artículu científicu espublizáu en 1998
@ast
im Februar 1998 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1998/02/07)
@sk
vědecký článek publikovaný v roce 1998
@cs
wetenschappelijk artikel (gepubliceerd op 1998/02/07)
@nl
наукова стаття, опублікована в лютому 1998
@uk
name
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@ast
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@en
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@nl
type
label
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@ast
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@en
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@nl
prefLabel
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@ast
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@en
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@nl
P2093
P50
P3181
P1433
P1476
Connexin-26 mutations in sporadic and inherited sensorineural deafness
@en
P2093
E. Mansfield
E. Rappaport
L. D'Agruma
L. Zelante
P. Fortina
P. Gasparini
S. Melchionda
P304
P3181
P356
10.1016/S0140-6736(97)11124-2
P407
P577
1998-02-07T00:00:00Z