Associated Papers
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 2019
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Investigative Ophthalmology & Visual Science, 2009
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R et al.
Human Genetics, 2008
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
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 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
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
Mashima Y et al.
Human Mutation, 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
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