Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thirty-two eyes from 16 patients (11 males and 5 females) with a genetic diagnosis of USH1 because of MYO7A mutations underwent SS-OCT.
|
31320737 |
2020 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations.
|
31479088 |
2019 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel MYO7A mutation in Usher syndrome type 1.
|
29416772 |
2018 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
|
29287847 |
2018 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Myosin 7 and its adaptors link cadherins to actin.
|
28660889 |
2017 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1.
|
28688563 |
2017 |
Usher Syndrome, Type I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Over-expression of myosin7A in cochlear hair cells of circling mice.
|
28400833 |
2017 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
|
28472130 |
2017 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
|
27610647 |
2016 |
Usher Syndrome, Type I
|
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 I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
|
27440999 |
2016 |
Usher Syndrome, Type I
|
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 I
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.
|
27013738 |
2016 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
|
27068579 |
2016 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
Usher Syndrome, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
|
27610647 |
2016 |
Usher Syndrome, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
|
27583663 |
2016 |
Usher Syndrome, Type I
|
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 I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking.
|
26791358 |
2016 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
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 I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.
|
27729122 |
2016 |
Usher Syndrome, Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
|
26791358 |
2016 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
|
27583663 |
2016 |
Usher Syndrome, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
|
27957503 |
2016 |