|
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 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
|
20052763 |
2010 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
|
18641288 |
2008 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
|
25324289 |
2014 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
|
21569298 |
2011 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
|
10738000 |
2000 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
|
19881469 |
2009 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
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 |
CLINVAR |
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.
|
25211151 |
2014 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
|
28512305 |
2017 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
|
28894305 |
2017 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
|
15241801 |
2004 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |