Associated Papers
Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.
Wei X et al.
American Journal of Ophthalmology, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.
Wei X et al.
Investigative Ophthalmology & Visual Science, 2024
Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.
Azevedo LS et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.
Liu Z et al.
Ophthalmic Genetics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS: Optical Coherence Tomography and Optical Coherence Tomography Angiography Study.
Kwon HJ et al.
Retina (philadelphia, Pa.), 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
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 investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z et al.
Bmc Medical Genomics, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Chen C et al.
Molecular Vision, 2020
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
Bullous X linked retinoschisis: clinical features and prognosis.
Hinds AM et al.
The British Journal of Ophthalmology, 2018
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV et al.
Human Molecular Genetics, 2013
A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A et al.
Ophthalmology, 2013
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 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
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
Vijayasarathy C et al.
Human Mutation, 2010
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
Gerth C et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
Shukla D et al.
American Journal of Ophthalmology, 2007
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
Li X et al.
Molecular Vision, 2007
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
Hewitt AW et al.
Clinical & Experimental Ophthalmology, 2005
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
Pimenides D et al.
Journal of Medical Genetics, 2005
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.
Zeng Y et al.
Investigative Ophthalmology & Visual Science, 2004
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
Fraternali F et al.
Febs Letters, 2003
Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks.
Hotta Y et al.
The British Journal of Ophthalmology, 2001
[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
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
Hiriyanna KT et al.
Human Mutation, 1999
Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.
Bradshaw K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 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
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.
Tanimoto N et al.
Japanese Journal of Ophthalmology, 0
Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis.
Zeng M et al.
Current Eye Research, 0
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
Ma X et al.
Japanese Journal of Ophthalmology, 0