Associated Papers
Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
Rodriguez-Martinez AC et al.
Ophthalmology Science, 2026
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
36099972 (PubMed )
Supplement: mmc4.pdf
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.
Oh DJ et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.
Alsulaiman HM et al.
Retinal Cases & Brief Reports, 2020
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X et al.
Molecular Medicine Reports, 2019
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
Yang L et al.
Molecular Vision, 2014
Retinal optogenetic therapies: clinical criteria for candidacy.
Jacobson SG et al.
Clinical Genetics, 2013
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
Aleman TS et al.
Investigative Ophthalmology & Visual Science, 2011
Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.
Talib M et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration.
Park EA et al.
Journal of Vitreoretinal Diseases, 0
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0
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