Associated Papers
Gene Therapy Strategies for the Treatment of Bestrophinopathies.
Haldrup SB et al.
International Journal of Molecular Sciences, 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
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.
Kolesnikova M et al.
Jci Insight, 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
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Nowomiejska K et al.
Acta Ophthalmologica, 2022
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.
Deák GG et al.
Retina (philadelphia, Pa.), 2019
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
Tian L et al.
Investigative Ophthalmology & Visual Science, 2017
Unilateral BEST1-Associated Retinopathy.
Arora R et al.
American Journal of Ophthalmology, 2016
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
Sodi A et al.
Molecular Vision, 2012
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Cohn AC et al.
Eye (london, England), 2011
Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
Low S et al.
Molecular Vision, 2011
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.
Testa F et al.
The British Journal of Ophthalmology, 2008
[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].
Ouyang YL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2008
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
Wabbels B et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2006
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F et al.
European Journal of Human Genetics : Ejhg, 2000