Condition: Usher Syndrome


rs121909762 in ADGRV1 gene and Usher Syndrome PMID 14740321 2004 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

rs113624356 in BBS1;ZDHHC24 gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893968 in GUCA1A gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs397518022 in LOC102723833;USH2A gene and Usher Syndrome PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

rs886039450 in LOC105372918;USH2A gene and Usher Syndrome PMID 23924366 2013 Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

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

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 27624628 2016 Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

rs111033178 in MYO7A gene and Usher Syndrome PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

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

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

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

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

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

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

PMID 28439001 2017 Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.

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

PMID 28944237 2017 Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

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

rs151045328 in USH1C gene and Usher Syndrome PMID 10973248 2000 A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

rs111033264 in USH2A gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

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

PMID 27318125 2016 A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

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

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

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

PMID 30245029 2018 Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 29490346 2018 The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

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

PMID 18463160 2008 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

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

PMID 15015129 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 20440071 2010 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 25910913 2015 High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

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

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.

PMID 25521520 2015 Clinical heterogeneity in a family with mutations in USH2A.

PMID 15241801 2004 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

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

PMID 28944237 2017 Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 19737284 2009 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

PMID 24853665 2015 Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

PMID 19023448 2008 Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 25133613 2014 Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

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

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 25333064 2014 Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

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

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

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

PMID 29196752 2017 Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

PMID 26766544 2016 Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

PMID 22009552 2012 Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 21738395 2011 Molecular epidemiology of Usher syndrome in Italy.

PMID 16098008 2005 Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 17085681 2006 Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

PMID 14970843 2004 Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

PMID 12427073 2002 Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

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

PMID 15025721 2004 Mutational spectrum in Usher syndrome type II.

PMID 11402400 2001 A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.

rs375668376 in USH2A;LOC102723833 gene and Usher Syndrome PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

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

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.