标题
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma
作者
关键词
<em class=EmphasisTypeItalic >BEST1</em> gene, Autosomal recessive bestrophinopathy, Best vitelliform macular dystrophy, Angle-closure glaucoma, Electroretinography, Electro-oculography, Intraocular pressure
出版物
DOCUMENTA OPHTHALMOLOGICA
Volume 129, Issue 1, Pages 57-63
出版商
Springer Nature
发表日期
2014-05-23
DOI
10.1007/s10633-014-9444-z
参考文献
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。- Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene
- (2013) Dror Sharon et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Autosomal Recessive Bestrophinopathy
- (2013) Camiel J.F. Boon et al. OPHTHALMOLOGY
- Autosomal-rezessive Bestrophinopathie (ARB): klinische und molekulare Beschreibung zweier Patienten im Kindesalter
- (2012) M. Preising et al. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
- Unilateral Vitelliform Phenotype in Autosomal Recessive Bestrophinopathy
- (2012) Maria Lucia Cascavilla et al. OPHTHALMIC RESEARCH
- Role of bestrophin-1 in store-operated calcium entry in retinal pigment epithelium
- (2012) Néstor Más Gómez et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Autosomal Recessive Best Vitelliform Macular Dystrophy
- (2011) Alessandro Iannaccone ARCHIVES OF OPHTHALMOLOGY
- Childhood-Onset Autosomal Recessive Bestrophinopathy
- (2011) Arundhati Dev Borman ARCHIVES OF OPHTHALMOLOGY
- Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in theBEST1Gene and Best Vitelliform Macular Dystrophy
- (2011) Elisabeth Wittström et al. OPHTHALMIC GENETICS
- AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS
- (2011) Tyson R Kinnick et al. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
- Bestrophins and retinopathies
- (2010) Qinghuan Xiao et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
- (2009) Alice E. Davidson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
- (2008) Rosemary Burgess et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Treatment of Adult-Onset Acute Macular Retinoschisis in Enhanced S-cone Syndrome With Oral Acetazolamide
- (2008) Alessandro Iannaccone 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
- Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB)
- (2008) Christina Gerth et al. DOCUMENTA OPHTHALMOLOGICA
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