|
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 |
|
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 |