Associated Papers
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.
Liu Z et al.
Ophthalmic Genetics, 2023
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S et al.
The British Journal of Ophthalmology, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
Prominent Optic Disc Featured in Inherited Retinopathy.
Todorova MG et al.
Klinische Monatsblatter Fur Augenheilkunde, 2017
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Martin J et al.
Fertility and Sterility, 2015
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
Chen J et al.
Molecular Vision, 2014
Novel RS1 mutations associated with X-linked juvenile retinoschisis.
Yi J et al.
International Journal of Molecular Medicine, 2012
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
Xu F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2011
Preimplantation genetic diagnosis of X-linked retinoschisis.
Lledó B et al.
Reproductive Biomedicine Online, 2008
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 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
An atypical early-onset X-linked retinoschisis mimicking uveitis masquerade syndrome.
Paiva ACM et al.
Arquivos Brasileiros De Oftalmologia, 0