ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
about
Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT.Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked RetinoschisisMolecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.Long-term 12 year follow-up of X-linked congenital retinoschisis.Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables.Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis.Macular drusenoid deposits in X-linked retinoschisis.Treatment of cystic cavities in X-linked juvenile retinoschisis: The first sequential cross-over treatment regimen with dorzolamide.Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation.
P2860
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P2860
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
ERG variability in X-linked co ...... ndus autofluorescence and OCT.
@en
ERG variability in X-linked co ...... ndus autofluorescence and OCT.
@nl
type
label
ERG variability in X-linked co ...... ndus autofluorescence and OCT.
@en
ERG variability in X-linked co ...... ndus autofluorescence and OCT.
@nl
prefLabel
ERG variability in X-linked co ...... ndus autofluorescence and OCT.
@en
ERG variability in X-linked co ...... ndus autofluorescence and OCT.
@nl
P2093
P1476
ERG variability in X-linked co ...... undus autofluorescence and OCT
@en
P2093
Agnes B Renner
Britta Fiebig
Elke Cropp
Michael H Foerster
Ulrich Kellner
P2860
P2888
P304
P356
10.1007/S10633-007-9094-5
P577
2007-11-07T00:00:00Z