Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
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
Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients.
Guo Q et al.
Frontiers in Genetics, 2022
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 2021
34573422 (PubMed )
Supplement: genes-12-01440-s001.zip › genes-1321629-supplementary.xlsx › Table_S3
Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.
McAnany JJ et al.
Investigative Ophthalmology & Visual Science, 2020
Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.
McAnany JJ et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
Chen J et al.
Molecular Vision, 2014
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
Pimenides D et al.
Journal of Medical Genetics, 2005
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
Gehrig A et al.
Clinical Genetics, 1999
Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
Hotta Y et al.
Human Genetics, 1998
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
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
Sauer CG et al.
Nature Genetics, 1997
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