Associated Papers
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.
Liu Z et al.
Ophthalmic Genetics, 2023
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S et al.
The British Journal of Ophthalmology, 2023
Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.
Fenner BJ et al.
Frontiers in Medicine, 2023
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.
McAnany JJ et al.
Investigative Ophthalmology & Visual Science, 2020
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
Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis.
Abalem MF et al.
Ophthalmic Genetics, 2018
Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.
McAnany JJ et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
Chen J et al.
Molecular Vision, 2014
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
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
Walia S et al.
American Journal of Ophthalmology, 2009
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
Wang T et al.
Human Molecular Genetics, 2002
[Identification of mutation of the X-linked juvenile retinoschisis gene].
Yu P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2001
[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
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