×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
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
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.
23148716
2012
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
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
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
18181211
2008
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
27610647
2016
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
22135276
2012
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1 .
9002678
1997
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
BEFREE
The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1 , while PCDH15, USH1C, and SANS are less frequent causes.
15660226
2005
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Advancing genetic testing for deafness with genomic technology.
23804846
2013
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
UNIPROT
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
8900236
1996
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
15043528
2004
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.
24194196
2014
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
UNIPROT
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
25798947
2015
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
UNIPROT
Identification of three novel mutations in the MYO7A gene.
10447383
1999
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
UNIPROT
The five genes currently known to cause USH1 (MYO7A , USH1C, CDH23, PCDH15, and USH1G) were tested for.
16679490
2006
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
20052763
2010
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
BEFREE
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1 .
22219650
2011
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
25404053
2014
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
24831256
2014
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
BEFREE
The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I .
22690115
2012
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
UNIPROT
The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1 , while PCDH15, USH1C, and SANS are less frequent causes.
15660226
2005
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration.
24997346
2014
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Functional analysis of splicing mutations in MYO7A and USH2A genes.
20497194
2011
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
CLINVAR
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.
23770805
2013
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
1.000
GeneticVariation
disease
BEFREE
Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1 .
20844544
2010