Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy-Reference-Cited by-同舟云学术

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Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

Published:2016-02-28 Issue:3 Volume:4 Page:344-358
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Freund Paul R.¹,Sergeev Yuri V.²,MacDonald Ian M.¹

Affiliation:

1. Department of Ophthalmology and Visual Sciences University of Alberta Edmonton Alberta Canada

2. Ophthalmic Genetics and Visual Function Branch National Eye Institute National Institutes of Health Bethesda Maryland

Funder

Canadian Institutes of Health Research

Foundation Fighting Blindness

Alberta Innovates - Health Solutions

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.208

Reference39 articles.

1. ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition)

2. No missense mutation in choroideremia patients analyzed to date

3. Accurate whole human genome sequencing using reversible terminator chemistry

4. Natural Course of Retinitis Pigmentosa Over a Three-Year Interval

5. Test-Retest, Within-Visit Variability of Goldmann Visual Fields in Retinitis Pigmentosa

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1. A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study;American Journal of Ophthalmology;2024-07

2. Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics;Ophthalmology Retina;2024-06

3. Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial;Nature Medicine;2023-10

4. Female carriers of X-linked inherited retinal diseases – Genetics, diagnosis, and potential therapies;Progress in Retinal and Eye Research;2023-09

5. Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation;American Journal of Ophthalmology Case Reports;2022-12

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