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
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s002.pdf
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.
Battaglia Parodi M et al.
American Journal of Ophthalmology, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
Sodi A et al.
Molecular Vision, 2012
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
Booij JC et al.
Ophthalmology, 2010
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
Renner AB et al.
Ophthalmology, 2005
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
Krämer F et al.
Human Mutation, 2003
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