Associated Papers
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 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
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
Best vitelliform macular dystrophy in a large Brazilian family.
de Souza CPR et al.
International Journal of Retina and Vitreous, 2019
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
Lin Y et al.
Molecular Medicine Reports, 2017
Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
Glavač D et al.
Acta Ophthalmologica, 2016
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
Doumanov JA et al.
International Journal of Molecular Sciences, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
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
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
Krämer F et al.
Human Mutation, 2003
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
White K et al.
Human Mutation, 2000
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