Associated Papers
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
Chibani Z et al.
Clinical & Experimental Ophthalmology, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
[Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients].
Xue Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2014
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2007
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.
Seddon JM et al.
Ophthalmology, 2001
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
White K et al.
Human Mutation, 2000
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
Allikmets R et al.
Human Genetics, 1999