Condition: Deafness, Autosomal Recessive 18


rs1207247951 in USH1C gene and Deafness, Autosomal Recessive 18 PMID 23251578 2012 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.

PMID 25560255 2015 NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

PMID 11139240 2001 Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

PMID 20671281 2010 Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina.

PMID 21203349 2010 Novel mutations in the USH1C gene in Usher syndrome patients.

PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12107438 2002 Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

PMID 24498627 2014 Experience of targeted Usher exome sequencing as a clinical test.

PMID 17407589 2007 Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

PMID 25468891 2014 Targeted exon sequencing in Usher syndrome type I.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 12136232 2002 Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

PMID 12630964 2003 USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

PMID 10973248 2000 A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

PMID 15578223 2005 The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.

PMID 27957503 2016 Usher syndrome in Denmark: mutation spectrum and some clinical observations.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 21487335 2011 Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.