|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
|
28000701 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
|
28894305 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
|
28512305 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
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 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
|
28981474 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
|
28512305 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
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 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
|
28894305 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
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 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
|
28041643 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
|
28041643 |
2017 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
|
27957503 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
|
27957503 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
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 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
|
27344577 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Usher syndrome type IIa is caused by mutations in USH2A.
|
27318125 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
|
28005958 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium.
|
26927203 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
|
27318125 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
USHER SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
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 |