Related references
Note: Only part of the references are listed.Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
Tyler A. Pfister et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Karsten Hufendiek et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies
Kent W. Small et al.
OPHTHALMOLOGY RETINA (2019)
Bestrophinopathy: An RPE-photoreceptor interface disease
Karina E. Guziewicz et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2017)
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
Kent W. Small et al.
OPHTHALMOLOGY (2016)
Terminology of MCDR1 What's in a Name?
Kent W. Small et al.
JAMA OPHTHALMOLOGY (2016)
Prdm13 Regulates Subtype Specification of Retinal Amacrine Interneurons and Modulates Visual Sensitivity
Satoshi Watanabe et al.
JOURNAL OF NEUROSCIENCE (2015)
Bestrophin I - Phenotypes and Functional Aspects in Bestrophinopathies
Caroline Pasquay et al.
OPHTHALMIC GENETICS (2015)
Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking
Adiv A. Johnson et al.
HUMAN MOLECULAR GENETICS (2013)
Clinicopathologic findings in Best vitelliform macular dystrophy
Qing Zhang et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2011)
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
F. Testa et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2008)
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
D. Marchant et al.
JOURNAL OF MEDICAL GENETICS (2007)
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy
B. Wabbels et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2006)
Novel de novo mutation in a patient with best macular dystrophy
Marsha A. Apushkin et al.
ARCHIVES OF OPHTHALMOLOGY (2006)
In vivo micropathology of Best macular dystrophy with optical coherence tomography
MJ Pianta et al.
EXPERIMENTAL EYE RESEARCH (2003)
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy
JM Seddon et al.
OPHTHALMOLOGY (2001)
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
F Krämer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
