相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
Najiha Rahman et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2020)
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Mital Shah et al.
JAMA OPHTHALMOLOGY (2020)
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos et al.
OPHTHALMOLOGY (2020)
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro et al.
NATURE (2020)
Gene therapy for visual loss: Opportunities and concerns
Jia Hui Lee et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2019)
THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES
Maurizio Battaglia Parodi et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2018)
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure
Karina E. Guziewicz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1)
Rupert W. Strauss et al.
OPHTHALMIC RESEARCH (2018)
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization
Ugo Introini et al.
OPHTHALMIC SURGERY LASERS & IMAGING RETINA (2018)
Tomographic Biomarkers Predicting Progression to Fibrosis in Treated Neovascular Age-Related Macular Degeneration: A Multimodal Imaging Study
Giuseppe Casalino et al.
OPHTHALMOLOGY RETINA (2018)
Technique of retinal gene therapy: delivery of viral vector into the subretinal space
K. Xue et al.
EYE (2017)
Bestrophin 1 and retinal disease
Adiv A. Johnson et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2017)
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY
Kamron N. Khan et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2017)
ISCEV Standard for clinical electro-oculography (2017 update)
Paul A. Constable et al.
DOCUMENTA OPHTHALMOLOGICA (2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Keren J. Carss et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Unilateral BEST1-Associated Retinopathy
Rashi Arora et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2016)
Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes
Kamron N. Khan et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2016)
BEST1: the Best Target for Gene and Cell Therapies
Tingting Yang et al.
MOLECULAR THERAPY (2015)
ISCEV Standard for full-field clinical electroretinography (2015 update)
Daphne L. McCulloch et al.
DOCUMENTA OPHTHALMOLOGICA (2015)
Structure and insights into the function of a Ca2+-activated Cl- channel
Veronica Kane Dickson et al.
NATURE (2014)
Proposed Lexicon for Anatomic Landmarks in Normal Posterior Segment Spectral-Domain Optical Coherence Tomography
Giovanni Staurenghi et al.
OPHTHALMOLOGY (2014)
Structure and selectivity in bestrophin ion channels
Tingting Yang et al.
SCIENCE (2014)
ISCEV standard for clinical pattern electroretinography (PERG): 2012 update
Michael Bach et al.
DOCUMENTA OPHTHALMOLOGICA (2013)
Childhood-Onset Autosomal Recessive Bestrophinopathy
Arundhati Dev Borman et al.
ARCHIVES OF OPHTHALMOLOGY (2011)
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel J. F. Boon et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2009)
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Rosemary Burgess et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
High-definition optical coherence tomography features in vitelliform macular dystrophy
Giuseppe Querques et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2008)
Clinical and genetic heterogeneity in multifocal vitelliforin dystrophy
Camiel J. F. Boon et al.
ARCHIVES OF OPHTHALMOLOGY (2007)
Variant phenotype of best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2
Patrik Schatz et al.
OPHTHALMIC GENETICS (2006)
The vitelliform macular dystrophy protein defines a new family of chloride channels
H Sun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
AD Marmorstein et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)