Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
about
Implications for health and disease in the genetic signature of the Ashkenazi Jewish populationIdentification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIAlternative splice variants of the USH3A gene Clarin 1 (CLRN1)CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentUsher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activationZebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative geneIdentification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.A small molecule mitigates hearing loss in a mouse model of Usher syndrome IIIHomozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaExperience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaNovel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.Genetics of Hearing Loss: SyndromicThe changing face of Usher syndrome: clinical implications.Carrier screening by next-generation sequencing: health benefits and cost effectiveness.Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationGenetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.Usher syndrome in Denmark: mutation spectrum and some clinical observationsGenetic isolates in ophthalmic diseases.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsGenetics and pathological mechanisms of Usher syndrome.The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.Genetic modifiers and oligogenic inheritance.Accelerated age-related olfactory decline among type 1 Usher patients.An update on the genetics of usher syndrome.A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III.Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.Extended mutation spectrum of Usher syndrome in Finland.A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
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P2860
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@ast
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@en
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@nl
type
label
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@ast
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@en
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@nl
prefLabel
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@ast
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@en
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@nl
P2093
P3181
P356
P1476
Genetic homogeneity and phenot ...... s with Usher syndrome type III
@en
P2093
A J Griffith
C C Brewer
J P Willner
K B Avraham
R J Desnick
R Kornreich
T B Friedman
P304
P3181
P356
10.1136/JMG.40.10.767
P407
P577
2003-10-01T00:00:00Z