Usher syndrome: definition and estimate of prevalence from two high-risk populations.
about
Retinitis pigmentosaAn Introduction to the Genetics of Normal and Defective HearingMutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FIntestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.A common ancestral origin of the frequent and widespread 2299delG USH2A mutationGenomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIaMissense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing lossExpression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1BUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyUsher syndrome in the city of Birmingham--prevalence and clinical classificationUsherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsInner ear symptoms and disease: pathophysiological understanding and therapeutic optionsStructures of usher syndrome 1 proteins and their complexesA comprehensive review of retinal gene therapyCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentHarmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and functionDeletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeWhirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptorsRpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.myosin 7aa(-/-) mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses.Further refinement of the Usher 2A locus at 1q41Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.Unconventional myosins and the genetics of hearing loss.Dual sensory loss: overview of problems, visual assessment, and rehabilitation.CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingGene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaMYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeTargeted exon sequencing in Usher syndrome type IClinical characteristics and current therapies for inherited retinal degenerationsA novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family
P2860
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P2860
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
description
1983 nî lūn-bûn
@nan
1983 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@ast
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@en
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@nl
type
label
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@ast
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@en
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@nl
prefLabel
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@ast
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@en
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@nl
P2093
P1476
Usher syndrome: definition and estimate of prevalence from two high-risk populations.
@en
P2093
P304
P356
10.1016/0021-9681(83)90147-9
P577
1983-01-01T00:00:00Z