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
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
Chibani Z et al.
Clinical & Experimental Ophthalmology, 2019
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.
Uggenti C et al.
Disease Models & Mechanisms, 2016
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
Wivestad Jansson R et al.
Ophthalmic Genetics, 2016
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
Bitner H et al.
Investigative Ophthalmology & Visual Science, 2011
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
Guziewicz KE et al.
Investigative Ophthalmology & Visual Science, 2011
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
Wittström E et al.
Ophthalmic Genetics, 2011
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
Lacassagne E et al.
Molecular Vision, 2011
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.
Guerriero S et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 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 spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R et al.
American Journal of Human Genetics, 2008
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).
Bakall B et al.
Experimental Eye Research, 2007
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
Schatz P et al.
Ophthalmic Genetics, 2006
A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.
Albuainain A et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0