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
about
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsStructures of usher syndrome 1 proteins and their complexesAdvancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano SymposiumThe Sinocyclocheilus cavefish genome provides insights into cave adaptationComprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Deafness and retinal degeneration in a novel USH1C knock-in mouse modelA detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosaNovel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.A genetic basis for mechanosensory traits in humansScreening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.The USH2A c.2299delG mutation: dating its common origin in a Southern European population.Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaAnalysis of the Ush2a gene in medaka fish (Oryzias latipes).Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Cognitive skills and reading in adults with Usher syndrome type 2.Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsThe efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceTargeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.Current understanding of usher syndrome type II.Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II.Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1The changing face of Usher syndrome: clinical implications.Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.Development of a genotyping microarray for Usher syndromeWhole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaExperience of targeted Usher exome sequencing as a clinical test.Genetics and pathological mechanisms of Usher syndrome.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Inherited hearing loss: molecular genetics and diagnostic testing.Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa.
P2860
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P2860
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
description
2004 nî lūn-bûn
@nan
2004 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մարտին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Identification of 51 novel exo ...... ts with Usher syndrome type II
@ast
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en-gb
Identification of 51 novel exo ...... ts with Usher syndrome type II
@nl
type
label
Identification of 51 novel exo ...... ts with Usher syndrome type II
@ast
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en-gb
Identification of 51 novel exo ...... ts with Usher syndrome type II
@nl
prefLabel
Identification of 51 novel exo ...... ts with Usher syndrome type II
@ast
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en-gb
Identification of 51 novel exo ...... ts with Usher syndrome type II
@nl
P2093
P2860
P356
P1476
Identification of 51 novel exo ...... ts with Usher syndrome type II
@en
P2093
Annemarie Claassen
Cor W R J Cremers
Frans P M Cremers
Hannie Kremer
Heleen te Brinke
Helger G Yntema
Lies H Hoefsloot
Ronald J E Pennings
P2860
P304
P356
10.1086/383096
P407
P577
2004-03-10T00:00:00Z