×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.
26377068 2015
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
23737954 2013
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
20309401 2010
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
19683999 2010
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
20440071 2010
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Mutational spectrum in Usher syndrome type II.
15025721 2004
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
15241801 2004
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
11311042 2001
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
Genomic structure and identification of novel mutations in usherin , the gene responsible for Usher syndrome type IIa .
10729113 2000