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Retricted access

Research article

First published 2016-5

Retinal degeneration mimicking cerebral visual impairment in a young child with CEP290 mutations: Case report

Lea VM Hyvärinen

British Journal of Visual Impairment

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Research article

First published 2015-5

Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 ( CEP290 ) Result in Classic Joubert Syndrome

Lixia Wang, Yun Yang, Jieping Song [...]

Journal of Child Neurology

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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

Research article

First published 2018-01

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

Wei Zhang, Linjing Li, Qin Su [...]

Human Gene Therapy

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Research article

First published 2021-06

Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature

Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2020-10

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

Mehdi Tavakoli, Amy M. Huang, Linda Cernichiaro-Espinosa [...]

Journal of VitreoRetinal Diseases

Open access

Review article

First published 2021-03

Genome-Editing Strategies for Treating Human Retinal Degenerations

Joel Quinn, Ayesha Musa, Ariel Kantor [...]

Human Gene Therapy

Search results

Retinal degeneration mimicking cerebral visual impairment in a young child with CEP290 mutations: Case report

Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 ( CEP290 ) Result in Classic Joubert Syndrome

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

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

Genome-Editing Strategies for Treating Human Retinal Degenerations