Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
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
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2024
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Polymorphism in ion channel genes of Dirofilaria immitis: Relevant knowledge for future anthelmintic drug design.
Mani T et al.
International Journal for Parasitology. Drugs and Drug Resistance, 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
Multimodal analysis of the progression of Best vitelliform macular dystrophy.
Querques G et al.
Molecular Vision, 2014
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
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
Querques G et al.
Molecular Vision, 2009
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.
Ponjavic V et al.
Ophthalmic Genetics, 1999
The mutation spectrum of the bestrophin protein--functional implications.
Bakall B et al.
Human Genetics, 1999
Identification of the gene responsible for Best macular dystrophy.
Petrukhin K et al.
Nature Genetics, 1998