|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
|
18665195 |
2009 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
|
26927203 |
2016 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular epidemiology of Usher syndrome in Italy.
|
21738395 |
2011 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
|
17405132 |
2007 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
|
28894305 |
2017 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
|
26338283 |
2015 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular findings from 537 individuals with inherited retinal disease.
|
27208204 |
2016 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
|
28041643 |
2017 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
|
25649381 |
2015 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
|
25425308 |
2014 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
|
23940504 |
2013 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
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 |
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
|
20145675 |
2010 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
|
10909849 |
2000 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
|
15671307 |
2005 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
|
11311042 |
2001 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
|
28761320 |
2017 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
|
10729113 |
2000 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
|
24265693 |
2013 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
|
25991456 |
2015 |
|
RETINITIS PIGMENTOSA 39 (disorder)
|
0.700 |
CausalMutation
|
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 |