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
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
Elbagoury NM et al.
Documenta Ophthalmologica. Advances in 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
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 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
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S et al.
Indian Journal of Ophthalmology, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
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
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Kirkby J et al.
Genes, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.
Wey S et al.
Frontiers in Medicine, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.
Cetin GO et al.
Ophthalmic Genetics, 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
Generation of induced pluripotent stem cell (iPSC) line ZOCi003-A derived from peripheral blood mononuclear cells of X-linked juvenile retinoschisis harboring a hemizygous mutation in RS1 gene.
Liu Y et al.
Stem Cell Research, 2021
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B et al.
Genes, 2021
A case of undiagnosed X-linked retinoschisis presenting as unilateral macular demarcation line.
Cozzupoli GM et al.
European Journal of Ophthalmology, 2021
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.
Smith LM et al.
Ophthalmic Genetics, 2020
Carboxylated nanodiamond-mediated CRISPR-Cas9 delivery of human retinoschisis mutation into human iPSCs and mouse retina.
Yang TC et al.
Acta Biomaterialia, 2020
Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Chen C et al.
Molecular Vision, 2020
A case of X-linked retinoschisis with atypical fundus appearance.
Nasser F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.
Lee ES et al.
Annals of Laboratory Medicine, 2019
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
Peripheral fundus findings in X-linked retinoschisis.
Fahim AT et al.
The British Journal of Ophthalmology, 2017
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Hu QR et al.
Scientific Reports, 2017
Macular cystoid spaces in patients with retinal dystrophy.
Lingao MD et al.
Ophthalmic Genetics, 2016
Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis.
Jeffrey BG et al.
Translational Vision Science & Technology, 2014
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 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
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 features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
Li X et al.
Molecular Vision, 2007
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
Saldana M et al.
American Journal of Medical Genetics. Part A, 2007
Novel phenotypic and genotypic findings in X-linked retinoschisis.
Tsang SH et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 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
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
Simonelli F et al.
The British Journal of Ophthalmology, 2003