|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
|
28981474 |
2017 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The proven effectiveness and specificity of these correction tools, applied to the c.2299delG pathogenic variant of USH2A, indicates that the CRISPR system should be considered to further explore a potential treatment of USH.
|
28918053 |
2017 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS.
|
29142287 |
2017 |
|
Usher Syndrome
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).
|
28944237 |
2017 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
|
26766544 |
2016 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
|
27624628 |
2016 |
|
Usher Syndrome
|
0.200 |
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
|
0.200 |
CausalMutation
|
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
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
|
26310143 |
2015 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
|
24853665 |
2015 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
|
25356976 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
|
26310143 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
|
25910913 |
2015 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical heterogeneity in a family with mutations in USH2A.
|
25521520 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
|
25649381 |
2015 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.
|
26377068 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
|
25375654 |
2015 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
|
25910913 |
2015 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
|
26338283 |
2015 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As has been previously reported, MYO7A is the most frequently mutated gene in our USH type I patients while USH2A is the most mutated gene in our USH type II patients.
|
26338283 |
2015 |