Condition: USHER SYNDROME, TYPE IIA


rs111033271 in CDH23 gene and USHER SYNDROME, TYPE IIA 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 15353998 2004 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

rs1342455785 in LOC102723833;USH2A gene and USHER SYNDROME, TYPE IIA PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

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

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

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

rs1064793745 in LOC105372918;USH2A gene and USHER SYNDROME, TYPE IIA PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

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

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

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

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

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

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

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

PMID 10738000 2000 Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

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

PMID 20309401 2010 Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

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

PMID 11311042 2001 Spectrum of mutations in USH2A in British 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 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

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

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 15025721 2004 Mutational spectrum in Usher syndrome type II.

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

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 18452394 2008 Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

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

PMID 21686329 2011 Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

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

PMID 26856745 2016 Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

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

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.

rs1035024403 in USH2A gene and USHER SYNDROME, TYPE IIA PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

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

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

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

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 10738000 2000 Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

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

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

PMID 15025721 2004 Mutational spectrum in Usher syndrome type II.

PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 21686329 2011 Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 20309401 2010 Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

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

PMID 18452394 2008 Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

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

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

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

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

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

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

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

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

PMID 24516651 2014 Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

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

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

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

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

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

PMID 19788668 2009 An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention.

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

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

PMID 26927203 2016 Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

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

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

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

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

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

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

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

PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 28005958 2016 Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

PMID 27344577 2016 Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

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

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

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

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

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

PMID 18665192 2008 Genomic instability and proliferative activity as risk factors for distant metastases in breast cancer.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 25211151 2014 Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

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 26496393 2015 Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

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

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

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

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

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

PMID 25252889 2015 Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

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

PMID 28761320 2017 Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

PMID 24603341 2014 exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 22563300 2012 A genetic basis for mechanosensory traits in humans.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 28894305 2017 Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients 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 25324289 2014 Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

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 15671307 2005 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

PMID 23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

PMID 27157150 2016 Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.

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

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

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

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

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

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

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

PMID 21738395 2011 Molecular epidemiology of Usher syndrome in Italy.

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

PMID 24607488 2014 The effect of the common c.2299delG mutation in USH2A on RNA splicing.

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

rs1162305984 in USH2A;LOC102723833 gene and USHER SYNDROME, TYPE IIA PMID 27318125 2016 A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

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

PMID 28000701 2017 The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

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

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

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

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

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

PMID 26927203 2016 Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

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

rs1177198729 in USH2A;LOC105372918 gene and USHER SYNDROME, TYPE IIA PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

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

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

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

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

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

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 25991456 2015 DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

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

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

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

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.