|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.
|
27409480 |
2016 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
|
10094549 |
1999 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This homozygous MYO7A mutation underlies a remarkable 43% of indigenous African USH cases investigated in this study, the majority of which (60%) were diagnosed clinically with Type 2 USH.
|
26469752 |
2015 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
|
12112664 |
2002 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.
|
16470552 |
2006 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.
|
16470552 |
2006 |
|
Usher Syndrome
|
0.500 |
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 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.
|
29287864 |
2018 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting myosin-VIIa are known to cause deafness and blindness in human Usher syndrome.
|
10574757 |
1999 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Point mutations of MYO7A found in Usher syndrome patients weaken or even disrupt the multivalent interactions of the MYO7A/USH1C/USH1G complex and impair its phase separation.
|
31644917 |
2019 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
|
27828912 |
2017 |
|
Usher Syndrome
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively.
|
15823922 |
2005 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing.
|
28731162 |
2017 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively.
|
15823922 |
2005 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1.
|
29287847 |
2018 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
|
25404053 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By analyzing the sequencing data of these two patients, four novel MYO7A mutations were revealed: (i) MYO7A p.Tyr560Ser and p.Ala2039Pro were associated with Usher syndrome 1B.
|
30826590 |
2019 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.
|
29605349 |
2018 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ten variants in the MYO7A gene and 34 variants in the USH2A gene were detected in Italian patients with USH at a high detection rate.
|
25558175 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
|
24831256 |
2014 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
With the novel mutation reported here, the total number of USH causing mutations in the MYO7A gene described to date reaches to 75.
|
15592175 |
2004 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The compound heterozygosity identified in gene MYO7A causes Usher Syndrome 1B with severe phenotypes.
|
22898263 |
2012 |
|
Usher Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
|
25080338 |
2014 |