Sage Journals: Discover world-class research

Retricted access

Research article

First published 2016-1

Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes

Rita Vámos, Maigi Külm, Viktoria Szabó [...]

European Journal of Ophthalmology

Open access

Case report

First published 2020-5

Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation

Jinghua Liu, Ying Liu, Liming Wang [...]

Journal of International Medical Research

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Case report

First published 2022-7

Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the CRB1 Gene

Tamara L. Lenis, Benjamin W. Botsford, David Sarraf [...]

Journal of VitreoRetinal Diseases

Open access

Research article

First published 2024-04

Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts

Sang Yoon Moon, Dan Zhang, Shang-Chih Chen [...]

The CRISPR Journal

Free access

Research article

First published 2010-4

Targeted Disruption of Outer Limiting Membrane Junctional Proteins (Crb1 and ZO-1) Increases Integration of Transplanted Photoreceptor Precursors into the Adult Wild-Type and Degenerating Retina

R. A. Pearson, A. C. Barber, E. L. West [...]

Cell Transplantation

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Case report

First published 2020-10

Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients

Daniel J. Oh, Veeral Sheth, Gerald A. Fishman [...]

Journal of VitreoRetinal Diseases

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Case report

First published 2021-3

Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration

Elli A. Park, Rachel M. Huckfeldt, Jason I. Comander [...]

Journal of VitreoRetinal Diseases

Retricted access

Research article

First published 2017-02

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

Hema L. Ramkumar, Harini V. Gudiseva, Kameron T. Kishaba [...]

Genetic Testing and Molecular Biomarkers

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