Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa
about
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese populationWhole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsA web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studiesMutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencingAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesTargeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian PopulationTargeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsWhole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaIdentification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaHomozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafishAblation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.Identifying mutations in Tunisian families with retinal dystrophyInner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860
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P2860
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին 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 spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@ast
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@en
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@nl
type
label
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@ast
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@en
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@nl
prefLabel
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@ast
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@en
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutation spectrum of EYS in Sp ...... recessive retinitis pigmentosa
@en
P2093
Guillermo Antiñolo
José M Millan
Juan Ignacio Pieras
Karin W Littink
Mai M Abd El-Aziz
Marcela Mena
Montserrat Baiget
Salud Borrego
Shomi S Bhattacharya
P2860
P304
P356
10.1002/HUMU.21334
P50
P577
2010-11-01T00:00:00Z