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
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.
Cideciyan AV et al.
Investigative Ophthalmology & Visual Science, 2022
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
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.
Deák GG et al.
Retina (philadelphia, Pa.), 2019
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
Schatz P et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
Bitner H et al.
American Journal of Ophthalmology, 2012
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
Querques G et al.
Investigative Ophthalmology & Visual Science, 2011
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
Schatz P et al.
Investigative Ophthalmology & Visual Science, 2010
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration.
Qu Z et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
Marchant D et al.
Human Mutation, 2001