Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
about
Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsNovel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese familyUSH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersNext-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingGenetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossTargeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingScreening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.MYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeCone responses in Usher syndrome types 1 and 2 by microvolt electroretinographyMassively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandThe efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceHigh Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.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.Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutationTargeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.Cation-coupled bicarbonate transportersThe contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Partial USH2A deletions contribute to Usher syndrome in Denmark.Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencingScreening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.Usher syndrome in Denmark: mutation spectrum and some clinical observationsAssessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsExperience of targeted Usher exome sequencing as a clinical test.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
P2860
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P2860
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Comprehensive sequence analysi ...... onal Collaborative Usher Study
@nl
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@ast
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@en
type
label
Comprehensive sequence analysi ...... onal Collaborative Usher Study
@nl
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@ast
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@en
prefLabel
Comprehensive sequence analysi ...... onal Collaborative Usher Study
@nl
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@ast
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@en
P2093
P2860
P3181
P1476
Comprehensive sequence analysi ...... nal Collaborative Usher Study.
@en
P2093
Alison Coffey
Andrew R Webster
Elene Haralambous
Heather B Steele-Stallard
Jenny Emmerson
John Ambrose
Karen P Steel
Linda M Luxon
Maria Bitner-Glindzicz
Nell Rangesh
P2860
P3181
P356
10.1136/JMEDGENET-2011-100468
P407
P577
2011-12-01T00:00:00Z