×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Genomic structure and identification of novel mutations in usherin , the gene responsible for Usher syndrome type IIa .
10729113 2000
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Genomic structure and identification of novel mutations in usherin , the gene responsible for Usher syndrome type IIa .
10729113 2000
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
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
CLINVAR
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
CLINVAR
Mutational spectrum in Usher syndrome type II.
15025721 2004
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
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
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
15671307 2005
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Novel mutations in MYO7A and USH2A in Usher syndrome.
15823922 2005
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
16098008 2005
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Development of a genotyping microarray for Usher syndrome.
16963483 2007
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Development of a genotyping microarray for Usher syndrome.
16963483 2007
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
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
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
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