Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in theBEST1Gene and Best Vitelliform Macular Dystrophy

Evaluation of Macular Structure and Function by OCT and Electrophysiology in Patients with Vitelliform Macular Dystrophy Due to Mutations in BEST1

(2010) P. Schatz et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

SOX9, through Interaction with Microphthalmia-associated Transcription Factor (MITF) and OTX2, RegulatesBEST1Expression in the Retinal Pigment Epithelium

(2010) Tomohiro Masuda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy

(2009) Elliott H. Sohn   ARCHIVES OF OPHTHALMOLOGY

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

(2009) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH

CLINICAL AND MOLECULAR GENETIC ANALYSIS OF BEST VITELLIFORM MACULAR DYSTROPHY

(2009) CAMIEL J. F. BOON et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

(2008) Rosemary Burgess et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-Definition Optical Coherence Tomography Features in Vitelliform Macular Dystrophy

(2008) Giuseppe Querques et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Bestrophin Cl− channels are highly permeable to HCO3−

(2008) Zhiqiang Qu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

(2008) F Testa et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF

(2008) K. Bharti et al.   DEVELOPMENT

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

BEST1 expression in the retinal pigment epithelium is modulated by OTX family members

(2008) Noriko Esumi et al.   HUMAN MOLECULAR GENETICS

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing

(2008) R Burgess et al.   JOURNAL OF MEDICAL GENETICS