Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
about
Parental Autonomy and the Obligation Not to Harm One's Child GeneticallyNonsyndromic hearing impairment: unparalleled heterogeneityA gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from IsraelMutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairmentGenetics of Tinnitus: Still in its Infancy.Genetics of hearing loss: focus on DFNA2.In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.Molecular biology of hearing.Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.Beginning of a molecular era in hearing and deafness.Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci.Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.Non-syndromic autosomal-dominant deafness.Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysisAutosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.The genetic bases for non-syndromic hearing loss among ChineseAssociation of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing lossDigenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.Genes responsible for human hereditary deafness: symphony of a thousand.Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.Gene localization in a Chinese family with autosomal dominant non-syndromic deafness.Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family."New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family.Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.Genetic hearing loss. Past and future.A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23
P2860
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P2860
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Linkage of autosomal dominant ...... f chromosome 1 in two families
@ast
Linkage of autosomal dominant ...... f chromosome 1 in two families
@en
Linkage of autosomal dominant ...... f chromosome 1 in two families
@nl
type
label
Linkage of autosomal dominant ...... f chromosome 1 in two families
@ast
Linkage of autosomal dominant ...... f chromosome 1 in two families
@en
Linkage of autosomal dominant ...... f chromosome 1 in two families
@nl
prefLabel
Linkage of autosomal dominant ...... f chromosome 1 in two families
@ast
Linkage of autosomal dominant ...... f chromosome 1 in two families
@en
Linkage of autosomal dominant ...... f chromosome 1 in two families
@nl
P2093
P1476
Linkage of autosomal dominant ...... f chromosome 1 in two families
@en
P2093
Cremers CW
Djoyodiharjo B
Huizing EH
Kimberling WJ
Padberg GW
P304
P356
10.1056/NEJM199408183310702
P407
P50
P577
1994-08-01T00:00:00Z