Associated Papers
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
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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
Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.
Wu WW et al.
The Journal of Biological Chemistry, 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
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