Condition: Deafness, Autosomal Recessive 12


rs111033271 in CDH23 gene and Deafness, Autosomal Recessive 12 PMID 15353998 2004 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

PMID 15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

PMID 22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

PMID 24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

PMID 17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 21940737 2011 Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

PMID 24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

PMID 26264712 2015 Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

PMID 23967202 2013 Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

rs121908351 in CDH23;C10orf105 gene and Deafness, Autosomal Recessive 12 PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

PMID 15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

PMID 22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

PMID 24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

PMID 17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

rs121908348 in CDH23;MIR7152 gene and Deafness, Autosomal Recessive 12 PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

PMID 24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

PMID 17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

PMID 15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.