Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 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
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA et al.
Acta Ophthalmologica, 2025
Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.
Chatterjee S et al.
American Journal of Medical Genetics. Part A, 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
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.
Avela K et al.
Acta Ophthalmologica, 2019
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV et al.
Human Molecular Genetics, 2013
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
Skorczyk A et al.
Molecular Vision, 2012
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
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
Kim SY et al.
Molecular Vision, 2009
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
Pimenides D et al.
Journal of Medical Genetics, 2005
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
Wang T et al.
Human Molecular Genetics, 2002
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis.
Hiraoka M et al.
Human Genetics, 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
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
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