Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
about
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaEvidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1RP2 and RPGR mutations and clinical correlations in patients 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 pigmentosaX-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two familiesIdentification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsClinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesUpdate on the molecular genetics of retinitis pigmentosaLinkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseComputer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family dataPrioritization of retinal disease genes: an integrative approachProgressive retinal atrophy in the Border Collie: a new XLPRA.Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 lociRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.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 ORF15Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.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).Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA regionA highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneityAutosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosaInner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.The future of genetic epidemiology.Investigation of disease mechanisms in retinitis pigmentosa.A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.Heterogeneity analysis in 40 X-linked retinitis pigmentosa familiesClinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaMutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseMolecular studies of phenotype variation in canine RPGR-XLPRA1.X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
P2860
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P2860
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
description
1990 nî lūn-bûn
@nan
1990 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@ast
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@en
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@nl
type
label
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@ast
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@en
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@nl
prefLabel
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@ast
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@en
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@nl
P2093
P2860
P356
P1476
Localizing multiple X chromoso ...... g multilocus homogeneity tests
@en
P2093
G A Fishman
G J Farrar
M J Denton
S Bhattacharya
P2860
P356
10.1073/PNAS.87.2.701
P407
P577
1990-01-01T00:00:00Z