A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationAutosomal recessive nonsyndromic deafness genes: a reviewA mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing lossMolecular epidemiology of DFNB1 deafness in FranceHigh frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.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 mutationsCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN productionFrequency 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 reviewConnexin 26 mutations in autosomal recessive deafness disorders: a reviewCoordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner earAllele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentGJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing LossFinding new genes for non-syndromic hearing loss through an in silico prioritization studyRelevance of connexin deafness (DFNB1) to human evolution.Rare variants create synthetic genome-wide associationsHeterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Genetics of auditory mechano-electrical transduction.A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.Deficiency of transcription factor Brn4 disrupts cochlear gap junction plaques in a model of DFN3 non-syndromic deafness.Viral vector tropism for supporting cells in the developing murine cochlea.Molecular biology of hearing.Modifiers of hearing impairment in humans and mice.Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.Function and expression pattern of nonsyndromic deafness genesComprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.ATP-mediated cell-cell signaling in the organ of Corti: the role of connexin channels.Analysis of connexin subunits required for the survival of vestibular hair cellsMesenchymal stem cell transplantation accelerates hearing recovery through the repair of injured cochlear fibrocytesHereditary non-syndromic sensorineural hearing loss: transforming silence to soundIdentification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.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.Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
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P2860
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
description
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Januar 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 24 January 2002)
@en
vedecký článok (publikovaný 2002/01/24)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/01/24)
@nl
наукова стаття, опублікована в січні 2002
@uk
مقالة علمية (نشرت في 24-1-2002)
@ar
name
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@ast
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@en
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@nl
type
label
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@ast
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@en
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@nl
prefLabel
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@ast
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@en
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@nl
P2093
P50
P3181
P356
P1476
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
@en
P2093
Araceli Alvarez
Dolores Tellería
Felipe Moreno
Ibis Menéndez
Miguel A Moreno-Pelayo
P3181
P356
10.1056/NEJMOA012052
P407
P577
2002-01-24T00:00:00Z