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
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J et al.
Investigative Ophthalmology & Visual Science, 2023
37747403 (PubMed )
Supplement: iovs-64-12-37_s008.xlsx › Sheet1
Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.
Lin Y et al.
Experimental and Therapeutic Medicine, 2021
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
32111077 (PubMed )
Supplement: ijms-21-01597-s001.pdf
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
Katagiri S et al.
The British Journal of Ophthalmology, 2015
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
Huang X et al.
International Journal of Molecular Medicine, 2015
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
Lin Y et al.
Molecular Medicine Reports, 2015
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
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