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- [1] Autosomal Recessive Bestrophinopathy Differential Diagnosis and Treatment Options[J]. OPHTHALMOLOGY, 2013, 120 (04) : 809 - 820Boon, Camiel J. F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Univ Oxford, John Radcliffe Hosp, Oxford Eye Hosp, Oxford OX3 9DU, England Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlandsvan den Born, L. Ingeborgh论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, NetherlandsVisser, Linda论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, NetherlandsKeunen, Jan E. E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, NetherlandsBergen, Arthur A. B.论文数: 0 引用数: 0 h-index: 0机构: Royal Netherlands Acad Arts & Sci, Netherlands Inst Neurosci, Dept Clin & Mol Ophthalmogenet, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Ophthalmol, NL-1105 AZ Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, NetherlandsBooij, Judith C.论文数: 0 引用数: 0 h-index: 0机构: Royal Netherlands Acad Arts & Sci, Netherlands Inst Neurosci, Dept Clin & Mol Ophthalmogenet, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, NetherlandsRiemslag, Frans C.论文数: 0 引用数: 0 h-index: 0机构: Bartimeus Inst Visually Impaired, Zeist, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, NetherlandsFlorijn, Ralph J.论文数: 0 引用数: 0 h-index: 0机构: Royal Netherlands Acad Arts & Sci, Netherlands Inst Neurosci, Dept Clin & Mol Ophthalmogenet, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlandsvan Schooneveld, Mary J.论文数: 0 引用数: 0 h-index: 0机构: Royal Netherlands Acad Arts & Sci, Netherlands Inst Neurosci, Dept Clin & Mol Ophthalmogenet, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Ophthalmol, NL-1105 AZ Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands
- [2] Childhood-Onset Autosomal Recessive Bestrophinopathy[J]. ARCHIVES OF OPHTHALMOLOGY, 2011, 129 (08) : 1088 - 1093Borman, Arundhati Dev论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, England UCL, Inst Ophthalmol, London EC1V 2PD, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandDavidson, Alice E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 2PD, England Univ Manchester, Sch Biomed, Manchester, Lancs, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandO'Sullivan, James论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Natl Genet Reference Lab, Manchester M13 0JH, Lancs, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandThompson, Dorothy A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London EC1V 2PD, England Great Ormond St Hosp Sick Children, Clin & Acad Dept Ophthalmol, London WC1N 3JH, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandRobson, Anthony G.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandDe Baere, Elfride论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandBlack, Graeme C. M.论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, St Marys Hosp, Manchester, Lancs, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 2PD, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandLeroy, Bart P.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium Univ Ghent, Dept Ophthalmol, B-9000 Ghent, Belgium Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandManson, Forbes D. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Sch Biomed, Manchester, Lancs, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 2PD, England Great Ormond St Hosp Sick Children, Clin & Acad Dept Ophthalmol, London WC1N 3JH, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, England
- [3] Biallelic mutation of BEST1 causes a distinct retinopathy in humans[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) : 19 - 31Burgess, Rosemary论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England Univ Manchester, Ctr Mol Med, Manchester M13 9PT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandMillar, Ian D.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Core Technol Facil, Manchester M13 9NT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandLeroy, Bart P.论文数: 0 引用数: 0 h-index: 0机构: State Univ Ghent Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium State Univ Ghent Hosp, Ctr Med Genet, B-9000 Ghent, Belgium St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandUrquhart, Jill E.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England Univ Manchester, Ctr Mol Med, Manchester M13 9PT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandFearon, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Core Technol Facil, Manchester M13 9NT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandDe Baere, Elfrida论文数: 0 引用数: 0 h-index: 0机构: State Univ Ghent Hosp, Ctr Med Genet, B-9000 Ghent, Belgium St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandBrown, Peter D.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Core Technol Facil, Manchester M13 9NT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandRobson, Anthony G.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England UCL, UCL Inst Ophthalmol, London EC1V 9EL, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandWright, Genevieve A.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandKestelyn, Philippe论文数: 0 引用数: 0 h-index: 0机构: State Univ Ghent Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England UCL, UCL Inst Ophthalmol, London EC1V 9EL, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England UCL, UCL Inst Ophthalmol, London EC1V 9EL, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandManson, Forbes D. C.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England Manchester Royal Eye Hosp, Acad Dept Ophthalmol, Manchester M13 9WH, Lancs, England Univ Manchester, Ctr Mol Med, Manchester M13 9PT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandBlack, Graeme C. M.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England Manchester Royal Eye Hosp, Acad Dept Ophthalmol, Manchester M13 9WH, Lancs, England Univ Manchester, Ctr Mol Med, Manchester M13 9PT, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
- [4] Autosomal recessive bestrophinopathy associated with angle-closure glaucoma[J]. DOCUMENTA OPHTHALMOLOGICA, 2014, 129 (01) : 57 - 63Crowley, C.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, AustraliaPaterson, R.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, AustraliaLamey, T.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, AustraliaMcLaren, T.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, AustraliaDe Roach, J.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, AustraliaChelva, E.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, AustraliaKhan, J.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA 6009, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Nedlands, WA 6009, Australia
- [5] Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB)[J]. DOCUMENTA OPHTHALMOLOGICA, 2009, 118 (03) : 239 - 246Gerth, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Dept Ophthalmol, D-18055 Rostock, Germany Univ Toronto, Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Rostock, Dept Ophthalmol, D-18055 Rostock, GermanyZawadzki, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Ophthalmol & Vis Sci, Vis Sci & Adv Retinal Imaging Lab, Davis, CA 95616 USA Univ Rostock, Dept Ophthalmol, D-18055 Rostock, GermanyWerner, John S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Ophthalmol & Vis Sci, Vis Sci & Adv Retinal Imaging Lab, Davis, CA 95616 USA Univ Rostock, Dept Ophthalmol, D-18055 Rostock, GermanyHeon, Elise论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Rostock, Dept Ophthalmol, D-18055 Rostock, Germany
- [6] AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS[J]. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2011, 31 (03): : 581 - 595Kinnick, Tyson R.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USAMullins, Robert F.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USADev, Sundeep论文数: 0 引用数: 0 h-index: 0机构: Vitreoretinal Surg, Minneapolis, MN USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USALeys, Monique论文数: 0 引用数: 0 h-index: 0机构: W Virginia Univ, Dept Ophthalmol, Morgantown, WV 26506 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USAMackey, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Lions Eye Inst, Ctr Ophthalmol & Visual Sci, Perth, WA 6009, Australia Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USAKay, Christine N.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USALam, Byron L.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Sch Med, Bascom Palmer Eye Inst, Miami, FL USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USAFishman, Gerald A.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Illinois Eye & Ear Infirm, Dept Ophthalmol & Visual Sci, Chicago, IL USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USATraboulsi, Elias论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Cole Eye Inst, Cleveland, OH 44106 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USAIezzi, Raymond论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USAStone, Edwin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Carver Family Ctr Macular Degenerat,Howard Hughes, Iowa City, IA 52242 USA
- [7] Bestrophins and retinopathies[J]. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2010, 460 (02): : 559 - 569Xiao, Qinghuan论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Neurodegenerat Dis, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USAHartzell, H. Criss论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Neurodegenerat Dis, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USAYu, Kuai论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Neurodegenerat Dis, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA