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
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.
Hemptinne C et al.
Ophthalmic Genetics, 2023
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
Navinés-Ferrer A et al.
International Journal of Molecular Sciences, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
35260635 (PubMed )
Supplement: 41598_2022_7618_MOESM1_ESM.pdf
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_s001.pdf
Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells.
Gao T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
DNA demethylation is associated with malignant progression of lower-grade gliomas.
Nomura M et al.
Scientific Reports, 2019
30760837 (PubMed )
Supplement: 41598_2019_38510_MOESM2_ESM.xlsx › Supplementary_Table_S6
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
Gao T et al.
Biomed Research International, 2018
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