about
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyLocalization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsLoss of dystrophin and the microtubule-binding protein ELP-1 causes progressive paralysis and death of adult C. elegans.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossComplete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Multiple mutations responsible for frequent genetic diseases in isolated populations.The changing face of Usher syndrome: clinical implications.Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationMYO7A mutation screening in Usher syndrome type I patients from diverse origins.Genetics and pathological mechanisms of Usher syndrome.High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
USH1A: chronicle of a slow death
@ast
USH1A: chronicle of a slow death
@en
USH1A: chronicle of a slow death
@nl
type
label
USH1A: chronicle of a slow death
@ast
USH1A: chronicle of a slow death
@en
USH1A: chronicle of a slow death
@nl
prefLabel
USH1A: chronicle of a slow death
@ast
USH1A: chronicle of a slow death
@en
USH1A: chronicle of a slow death
@nl
P2093
P2860
P50
P356
P1476
USH1A: chronicle of a slow death
@en
P2093
Brigitte Gilbert
Dominique Bonneau
Jean-Louis Dufier
P2860
P356
10.1086/500275
P407
P577
2006-02-01T00:00:00Z