Condition: USHER SYNDROME, TYPE ID


rs368487578 in C10orf105;CDH23 gene and USHER SYNDROME, TYPE ID PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

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 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

rs111033270 in CDH23 gene and USHER SYNDROME, TYPE ID 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 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

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

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.

PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

PMID 15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

PMID 23451239 2013 Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

rs121908347 in CDH23;C10orf105 gene and USHER SYNDROME, TYPE ID 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 18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

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

PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.

rs183431253 in MIR7152;CDH23 gene and USHER SYNDROME, TYPE ID PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.

rs111033260 in PCDH15 gene and USHER SYNDROME, TYPE ID PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

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

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.