X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
about
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaAnalysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRNext-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandClinical course of cone dystrophy caused by mutations in the RPGR geneInner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaPhenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseMutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaIdentification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsEvaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.A large deletion in RPGR causes XLPRA in Weimaraner dogsAge-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutationsNovel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopiaUnravelling the genetic basis of simplex Retinitis Pigmentosa cases.Prenylation defects in inherited retinal diseases.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Molecular findings from 537 individuals with inherited retinal disease.Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders.Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes.Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
P2860
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P2860
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@ast
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@en
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@nl
type
label
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@ast
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@en
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@nl
prefLabel
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@ast
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@en
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@nl
P2093
P50
P3181
P356
P1476
X-linked retinitis pigmentosa: ...... sequence stretch of exon ORF15
@en
P2093
Bernd Wissinger
Birgit Lorenz
Bärbel Wittwer
Eckart Apfelstedt-Sylla
Günther Rudolph
Helene Achatz
Ingrid Bader
Oliver Brandau
P304
P3181
P356
10.1167/IOVS.02-0605
P407
P577
2003-04-01T00:00:00Z