×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.
26377068
2015
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
23737954
2013
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
22004887
2011
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
21593743
2011
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
21686329
2011
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
20309401
2010
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
20507924
2010
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
19683999
2010
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
20440071
2010
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
19737284
2009
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
18452394
2008
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, patients from 118 unrelated families of which 27 previously had been found to carry mutations in exons 1-21 were subjected to extensive DNA sequence analysis of the full size USH2A gene.
18273898
2008
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
17405132
2007
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
17085681
2006
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
The USH2A gene is mutated in patients with Usher syndrome type IIa , which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa.
15015129
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Mutational spectrum in Usher syndrome type II.
15025721
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
14970843
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
15325563
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
15241801
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
12525556
2003
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
12112664
2002
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
11311042
2001
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
10738000
2000
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Mutations in the USH2A gene, located on 1q41, were recently shown to be responsible for Usher syndrome type IIa .
10909849
2000
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
1.000
GeneticVariation
disease
UNIPROT
Genomic structure and identification of novel mutations in usherin , the gene responsible for Usher syndrome type IIa .
10729113
2000