Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
about
Progress and prospects of next-generation sequencing testing for inherited retinal dystrophyPDZD7 and hearing loss: More than just a modifierA detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Targeted 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.Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.Single nucleotide variations: biological impact and theoretical interpretation.Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandMutational 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 practiceHigh-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.Current understanding of usher syndrome type II.NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseasePanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaThe mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitoticallyGenomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Unilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms.Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degenerationWhole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaHomozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.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.An update on the genetics of usher syndrome.Extended mutation spectrum of Usher syndrome in Finland.Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
P2860
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P2860
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@ast
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@en
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@nl
type
label
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@ast
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@en
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@nl
prefLabel
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@ast
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@en
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@nl
P2093
P2860
P356
P1476
Novel mutations in the long is ...... syndromic retinitis pigmentosa
@en
P2093
Babak Jian Seyedahmadi
Eliot L Berson
Meredith O Sweeney
Terri L McGee
Thaddeus P Dryja
P2860
P304
P356
10.1136/JMG.2009.075143
P407
P577
2010-05-27T00:00:00Z