about
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaA fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesBiochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationMolecular genetics of retinitis pigmentosaPhenotype-genotype correlations in X linked retinitis pigmentosa.On the heredity of retinitis pigmentosa.A modified ERG technique and the results obtained in X-linked retinitis pigmentosa.A genetic linkage study of a kindred with X-linked retinitis pigmentosa.Retinitis pigmentosa and retinal oedemaA study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneitySevere manifestations in carrier females in X linked retinitis pigmentosa.Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa.Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variantsLong-term follow-up of a family with dominant X-linked retinitis pigmentosa.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15Mathematical models of retinitis pigmentosa: a study of the rate of progress in the different genetic formsStructural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaMutations of RPGR in X-linked retinitis pigmentosa (RP3).Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosaLinkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.Investigation of disease mechanisms in retinitis pigmentosa.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.
P2860
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P2860
description
1975 nî lūn-bûn
@nan
1975 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
name
X-linked retinitis pigmentosa.
@ast
X-linked retinitis pigmentosa.
@en
type
label
X-linked retinitis pigmentosa.
@ast
X-linked retinitis pigmentosa.
@en
prefLabel
X-linked retinitis pigmentosa.
@ast
X-linked retinitis pigmentosa.
@en
P2860
P356
P1476
X-linked retinitis pigmentosa.
@en
P2093
P2860
P304
P356
10.1136/BJO.59.4.177
P407
P577
1975-04-01T00:00:00Z