scholarly article | Q13442814 |
P356 | DOI | 10.1038/S41433-020-01150-0 |
P698 | PubMed publication ID | 32839555 |
P50 | author | James Hejtmancik | Q87240905 |
Xuyang Liu | Q98665175 | ||
P2093 | author name string | Yun Wang | |
Ming Yang | |||
Xiaodong Jiao | |||
Daren Zhang | |||
Yueqiu Tan | |||
Fen He | |||
Lan Lu | |||
Danli Li | |||
P2860 | cites work | Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa | Q21090932 |
Retinitis pigmentosa | Q21203028 | ||
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa | Q24532214 | ||
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa | Q24612935 | ||
Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). | Q28114957 | ||
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors | Q28144488 | ||
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 | Q28186363 | ||
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | Q28282762 | ||
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60 | Q28291575 | ||
5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation | Q28541438 | ||
Retinitis pigmentosa | Q29616538 | ||
On the heredity of retinitis pigmentosa | Q33641994 | ||
X-linked retinitis pigmentosa | Q33649367 | ||
Severe manifestations in carrier females in X linked retinitis pigmentosa | Q33679522 | ||
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations | Q33999124 | ||
Clinical and genetic characterization of manifesting carriers of DMD mutations | Q34151973 | ||
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females | Q35015824 | ||
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland | Q35141770 | ||
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. | Q36462441 | ||
The Role of X-Chromosome Inactivation in Retinal Development and Disease | Q37016159 | ||
The RCC1 superfamily: from genes, to function, to disease. | Q37149520 | ||
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 | Q37216323 | ||
Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia | Q37519162 | ||
RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. | Q38722345 | ||
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa | Q42631280 | ||
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. | Q43074848 | ||
Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. | Q43168499 | ||
RPGR mutations might cause reduced orientation of respiratory cilia | Q44640058 | ||
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families | Q46508303 | ||
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. | Q50513927 | ||
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. | Q52594137 | ||
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. | Q54449556 | ||
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling | Q56241301 | ||
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene | Q57172471 | ||
Retinitis pigmentosa. Genetic percentages | Q67338483 | ||
X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers | Q69608946 | ||
Prevalence of retinitis pigmentosa in Maine | Q71287186 | ||
X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? | Q72567848 | ||
P921 | main subject | retinitis pigmentosa | Q847057 |
P577 | publication date | 2020-08-24 | |
P1433 | published in | Eye | Q10278937 |
P1476 | title | A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation |
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