Results 131 to 140 of about 7,532,788 (147)

Assessment of RS1 in X-Linked Juvenile Retinoschisis and Sporadic Senile Retinoschisis

Clinical Genetics, 1999
The RS1 gene is the causative gene in X-linked juvenile retinoschisis (RS). We have screened this gene for mutations in 13 patients with RS and in 7 probands with senile retinoschisis, a sporadic, later-onset form of retinoschisis.
Bernhard H Weber, Birgit Lorenz, Karen White   +2 more
exaly   +2 more sources

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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients

Ophthalmology, 2022
Jacoline B Ten Brink, Roselie M Diederen, Carel B Hoyng   +2 more
exaly  

Immune Function in X-Linked Retinoschisis Subjects in an AAV8-RS1 Phase I/IIa Gene Therapy Trial

Molecular Therapy, 2021
Paul Sieving, Camasamudram Vijayasarathy, Alaknanda Mishra   +2 more
exaly  

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

Genes, 2023
Anthony T Moore, Susan M Downes, Chetan Kantibhai Patel   +2 more
exaly  

X-Linked Juvenile Retinoschisis: Clinical Diagnosis, Genetic Analysis, and Molecular Mechanisms

Progress in Retinal and Eye Research, 2012
Ulrich Kellner, Robert S Molday, Bernhard H Weber   +2 more
exaly  

A Carrier State of X-Linked Juvenile Retinoschisis

Ophthalmic Paediatrics and Genetics, 1985
E Cotlier
exaly  

Carbonic Anhydrase Inhibitors in Patients With X-Linked Retinoschisis: Effects on Macular Morphology and Function

Ophthalmic Genetics, 2019
Beatrice Gallo, Francesca Simonelli, Francesco Testa   +2 more
exaly  

Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings From a Phase I/IIa Trial by Intravitreal Delivery

Molecular Therapy, 2018
Paul Sieving, Lucia Ziccardi, Camasamudram Vijayasarathy   +2 more
exaly  

Phenotypic Characteristics of a French Cohort of Patients With X-Linked Retinoschisis

Ophthalmology, 2018
Saddek Mohand-Said, Christina Zeitz, José-Alain Sahel   +2 more
exaly  

Multifocal Electroretinograms in X-Linked Retinoschisis

Investigative Ophthalmology and Visual Science, 2003
Makoto Nakamura, Mineo Kondo, Hiroko Terasaki   +2 more
exaly