Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseSpecific sphingolipid content decrease in Cerkl knockdown mouse retinasNext-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.Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencingNovel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesExome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophySeven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Next-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 practiceMutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingThe diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaImproving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.Halting progressive neurodegeneration in advanced retinitis pigmentosaMicroarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Next-generation genetic testing for 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 PigmentosaHigh frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish populationUnilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsOutcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish familiesTargeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsUnravelling the genetic basis of simplex Retinitis Pigmentosa cases.The molecular basis of retinal dystrophies in pakistan.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.
P2860
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P2860
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին 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
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@ast
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@en
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@nl
type
label
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@ast
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@en
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@nl
prefLabel
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@ast
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@en
Mutation analysis of 272 Spani ...... using a genotyping microarray.
@nl
P2093
P2860
P1433
P1476
Mutation analysis of 272 Spani ...... using a genotyping microarray
@en
P2093
Almudena Ávila-Fernández
Carmen Ayuso
Diego Cantalapiedra
Elena Aller
Elena Vallespín
Fiona Blanco-Kelly
Frans P M Cremers
Jana Aguirre-Lambán
José M Millán
María José Trujillo-Tiebas
P2860
P304
P50
P577
2010-12-03T00:00:00Z