Condition: Usher Syndrome, Type I


rs1057519383 in ADGRV1 gene and Usher Syndrome, Type I PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

rs375907609 in CDH23 gene and Usher Syndrome, Type I PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

rs796051861 in CDH23;CDH23-AS1 gene and 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.

rs145415848 in CIB2 gene and Usher Syndrome, Type I PMID 23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

rs1052030 in MYO7A gene and Usher Syndrome, Type I PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 8900236 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PMID 20052763 2010 Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

PMID 21436283 2011 Four-year follow-up of diagnostic service in USH1 patients.

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 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

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

PMID 24831256 2014 Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

PMID 25798947 2015 Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

PMID 10447383 1999 Identification of three novel mutations in the MYO7A gene.

PMID 9718356 1998 Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

PMID 10364543 1999 Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

PMID 9002678 1997 Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

PMID 10930322 2000 Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

PMID 7870171 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PMID 9382091 1997 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

PMID 12112664 2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PMID 23559863 2013 Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 19074810 2009 Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

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

PMID 24651602 2014 American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

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

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

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

PMID 16400615 2006 USH1A: chronicle of a slow death.

PMID 21873662 2011 Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

PMID 16470552 2006 Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

PMID 21311020 2011 Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.

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

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

PMID 18181211 2008 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

PMID 26791358 2016 Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

PMID 17361009 2007 MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

PMID 15823922 2005 Novel mutations in MYO7A and USH2A in Usher syndrome.

PMID 26445815 2015 Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

PMID 27729122 2016 Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.

PMID 20497194 2011 Functional analysis of splicing mutations in MYO7A and USH2A genes.

PMID 24997346 2014 FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration.

PMID 27583663 2016 Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

PMID 9171832 1997 Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

PMID 23148716 2012 Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.

PMID 18700726 2008 Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.

PMID 22898263 2012 Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B.

PMID 23804846 2013 Advancing genetic testing for deafness with genomic technology.

PMID 23770805 2013 Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

PMID 28281779 2017 Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 20613545 2010 Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

PMID 24194196 2014 Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

PMID 19299023 2009 Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan.

PMID 25788563 2015 Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

PMID 15043528 2004 Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 28472130 2017 Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

PMID 25558175 2014 MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

PMID 21738395 2011 Molecular epidemiology of Usher syndrome in Italy.

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

PMID 24164807 2013 Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

PMID 27610647 2016 Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

PMID 27068579 2016 DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

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

PMID 26309859 2015 Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

PMID 25080338 2014 Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

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

PMID 24105371 2014 Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

PMID 27440999 2016 Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

rs111033260 in PCDH15 gene and Usher Syndrome, Type I PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

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

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

rs151045328 in USH1C gene and Usher Syndrome, Type I PMID 11810303 2002 The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

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

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 10973247 2000 A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

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

PMID 12702164 2003 The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

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

rs397515345 in USH1G gene and Usher Syndrome, Type I PMID 11941484 2002 A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

PMID 12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

rs876657419 in USH1G;OTOP2 gene and Usher Syndrome, Type I PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.