|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
|
9624053 |
1998 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
|
17296898 |
2007 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
|
12427073 |
2002 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
|
12112664 |
2002 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
|
10775529 |
2000 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
|
24227914 |
2013 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
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 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
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 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
|
19737284 |
2009 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
|
23737954 |
2013 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
|
18273898 |
2008 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
|
21151602 |
2010 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
|
26856745 |
2016 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification 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 II.
|
15015129 |
2004 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
|
17085681 |
2006 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
|
22581970 |
2012 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
|
25333064 |
2014 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
|
28944237 |
2017 |