SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

Item
http://www.wikidata.org/entity/Q30433364
SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and miceExome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathologyHearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisitionSLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.Genetics of Hearing Loss: SyndromicAtypical patterns of segregation of familial enlargement of the vestibular aqueduct.A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct.Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
P2860

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

Item
http://www.wikidata.org/entity/Q30433364
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@ast
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@en
type
label
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@ast
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@en
prefLabel
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@ast
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
SLC26A4 genotype, but not coch ...... enlarged vestibular aqueduct.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932