Associated Papers
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA et al.
Acta Ophthalmologica, 2025
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Characterization of p190-Bcr-Abl chronic myeloid leukemia reveals specific signaling pathways and therapeutic targets.
Adnan-Awad S et al.
Leukemia, 2021
33168949 (PubMed )
Supplement: 41375_2020_1082_MOESM4_ESM.xlsx › S1
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Hu QR et al.
Scientific Reports, 2017
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
Skorczyk A et al.
Molecular Vision, 2012
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
21955854 (PubMed )
Supplement: gb-2011-12-9-r94-S10.PDF
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
Huopaniemi L et al.
European Journal of Human Genetics : Ejhg, 1999
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
Hiriyanna KT 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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