|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
|
28041643 |
2017 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
|
27957503 |
2016 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
|
25560255 |
2015 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
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 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
|
24416283 |
2014 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Experience of targeted Usher exome sequencing as a clinical test.
|
24498627 |
2014 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Targeted exon sequencing in Usher syndrome type I.
|
25468891 |
2014 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted exon sequencing in Usher syndrome type I.
|
25468891 |
2014 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
|
23251578 |
2012 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
|
21487335 |
2011 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina.
|
20671281 |
2010 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in the USH1C gene in Usher syndrome patients.
|
21203349 |
2010 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
|
17407589 |
2007 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
|
17407589 |
2007 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
|
15578223 |
2005 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
|
12630964 |
2003 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
Biomarker
|
disease |
MGD |
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.
|
14519688 |
2003 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
|
12136232 |
2002 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
|
12107438 |
2002 |
|
Deafness, Autosomal Recessive 18
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
|
11139240 |
2001 |