Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S et al.
Indian Journal of Ophthalmology, 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
Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.
Wey S et al.
Frontiers in Medicine, 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
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.
Gao FJ et al.
Acta Ophthalmologica, 2021
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
Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.
Orès R et al.
Ophthalmology, 2018
Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.
Akeo K et al.
Case Reports in Ophthalmological Medicine, 2015
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV et al.
Human Molecular Genetics, 2013
Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis.
Gregori NZ 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
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis.
Atchaneeyasakul LO et al.
Japanese Journal of Ophthalmology, 2010
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Investigative Ophthalmology & Visual Science, 2009
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
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R et al.
Human Genetics, 2008
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
Suganthalakshmi B et al.
Molecular Vision, 2007
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.
Wu WW et al.
The Journal of Biological Chemistry, 2003
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
Fraternali F et al.
Febs Letters, 2003
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis.
Khan NW et al.
Vision Research, 2001
[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
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
Mashima Y 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
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.
Teixeira C et al.
European Journal of Ophthalmology, 0
Identification of XLRS1 gene mutation (608C>T) in a Portuguese family with juvenile retinoschisis.
Teixeira C et al.
European Journal of Ophthalmology, 0