|
Usher Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
USH2 is the most commonly diagnosed of all Usher syndrome cases.
|
31638198 |
2019 |
|
Usher Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
We investigated olfactory function for USH types 1 (USH1) and 2 (USH2).
|
30897432 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel <i>USH1G</i> homozygous variant underlying USH2-like phenotype of Usher syndrome.
|
31566003 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.
|
30948794 |
2019 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The c.11864G>A mutation represents the vast majority of pathogenic alleles in Slovenian USH2A-Usher syndrome population (84%).
|
31817543 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This review focuses on an USH type 2 (USH2) gene encoding whirlin (WHRN; previously known as DFNB31), mutations in which have been found to cause either USH2 subtype USH2D or autosomal recessive non-syndromic deafness type 31 (DFNB31).
|
30831381 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, these same USH2A variants are also identified in another family with vision loss where subsequent clinical follow-up confirmed pre-existing hearing loss since early childhood, eventually resulting in a reassigned diagnosis of Usher syndrome.
|
31046701 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), normal vestibular function, and typical RP (onset by 20 years of age); accounts for about 26% of all Usher cases.
|
30578505 |
2019 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa.
|
29777677 |
2018 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Seventy-four families with USH were recruited (23 with USH type 1 [USH1], 33 with USH2, seven with USH3, four with atypical USH, and seven families with an undetermined USH type).
|
29490346 |
2018 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
|
28678594 |
2018 |
|
Usher Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
To gain a comprehensive view of the contribution of USH2A CNVs to USH, we conducted prospective and retrospective screening in 700 hearing loss probands.
|
29655801 |
2018 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.
|
30096711 |
2018 |
|
Usher Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2).
|
28704163 |
2018 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
|
29490346 |
2018 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment).
|
29912909 |
2018 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
|
30245029 |
2018 |
|
Usher Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
For the panel tests, the degree of color loss (Confusion index) is similar in both subtypes of USH, but the polarization of error scores (Selectivity index) is significantly lower in USH1 than USH2, showing more diffuse errors than those found in USH2.
|
30012035 |
2018 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results revealed six novel mutations in the USH2A gene in a Chinese population, which is beneficial for the clinical use of genetic testing of USH2A in patients with autosomal-recessive or sporadic RP and Usher syndrome.
|
29899460 |
2018 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome.
|
29151245 |
2018 |
|
Usher Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
|
29196752 |
2017 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Usher syndrome (USH) is the most common cause of inherited deaf-blindness, manifested as USH1, USH2 and USH3 clinical types.
|
28031293 |
2017 |
|
Usher Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
USH2A is no longer regarded as a breast cancer driver gene and seems an implausible candidate given its association with Usher syndrome.
|
28840378 |
2017 |
|
Usher Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP.
|
28894305 |
2017 |