Associated Papers
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.
Gao FJ et al.
Acta Ophthalmologica, 2021
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D et al.
Plos One, 2018
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Wilkin J et al.
Ophthalmic Genetics, 2016
A novel gene mutation in a family with X-linked retinoschisis.
Lai YH et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Renner AB et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2008
An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
Iannaccone A et al.
Vision Research, 2006
X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.
Kim DY et al.
Retina (philadelphia, Pa.), 2006
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
Hewitt AW et al.
Clinical & Experimental Ophthalmology, 2005
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
Hayashi T et al.
American Journal of Ophthalmology, 2004
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
Simonelli F et al.
The British Journal of Ophthalmology, 2003
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
Fraternali F et al.
Febs Letters, 2003
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Kim DY et al.
Seminars in Ophthalmology, 0