A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
about
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FMutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type IIUsher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23Early diagnosis of Usher syndrome in childrenGenomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIaUSH1A: chronicle of a slow deathCloning, chromosomal localization and promoter analysis of the human transcription factor YY1Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epitheliaUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyUsher syndrome in the city of Birmingham--prevalence and clinical classificationMyosin VIIA mutation screening in 189 Usher syndrome type 1 patientsMutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse originsGenetic heterogeneity of Usher syndrome type II in a Dutch population.Genetic heterogeneity of Usher syndrome type IIMolecular genetic techniques and applications in ophthalmology.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Beginning of a molecular era in hearing and deafness.Impacts of Usher syndrome type IB mutations on human myosin VIIa motor functionPendred syndrome: evidence for genetic homogeneity and further refinement of linkageLinkage analysis in Usher syndrome type I (USH1) families from SpainUsher syndrome type III (USH3) linked to chromosome 3q in an Italian family.Evidence for a fourth locus in Usher syndrome type I.Unconventional myosins and the genetics of hearing loss.USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.Contig maps and genomic sequencing identify candidate genes in the usher 1C locus.Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41The changing face of Usher syndrome: clinical implications.Analysis of phosducin as a candidate gene for retinopathies.Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.Molecular genetics of human retinal dystrophies.Purification of a WD repeat protein, EMAP, that promotes microtubule dynamics through an inhibition of rescue.Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?Giant retinal tear and retinal detachment with underlying retinitis pigmentosa and hearing loss.Ophthalmologic findings in Usher syndrome type 2A.Stable and progressive hearing loss in type 2A Usher's syndrome.
P2860
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P2860
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@ast
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@en
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@nl
type
label
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@ast
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@en
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@nl
prefLabel
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@ast
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@en
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@nl
P2093
P1433
P1476
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
@en
P2093
J L Dufier
M L Briard
P304
P356
10.1016/S0888-7543(05)80120-X
P407
P577
1992-12-01T00:00:00Z