Associated Papers
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 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
Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.
Lee SJ et al.
Ophthalmology. Retina, 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Early Developmental Characteristics and Features of a Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.
Han JW et al.
International Journal of Molecular Sciences, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S et al.
The British Journal of Ophthalmology, 2023
Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.
Wey S et al.
Frontiers in Medicine, 2023
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
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B et al.
Genes, 2021
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis.
Low S et al.
Ophthalmic Genetics, 2018
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.
Cukras C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
Bullous X linked retinoschisis: clinical features and prognosis.
Hinds AM et al.
The British Journal of Ophthalmology, 2018
Peripheral fundus findings in X-linked retinoschisis.
Fahim AT et al.
The British Journal of Ophthalmology, 2017
Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis.
Jeffrey BG et al.
Translational Vision Science & Technology, 2014
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
Novel RS1 mutations associated with X-linked juvenile retinoschisis.
Yi J et al.
International Journal of Molecular Medicine, 2012
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Renner AB et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2008
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
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
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
Suganthalakshmi B et al.
Molecular Vision, 2007
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
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
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
Sauer CG et al.
Nature Genetics, 1997
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
Ma X et al.
Japanese Journal of Ophthalmology, 0