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Journal Abstract Search

213 related items for PubMed ID: 23096145

  • 1. [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].
    Preising MN, Pasquay C, Friedburg C, Bowl W, Jäger M, Andrassi-Darida M, Lorenz B.
    Klin Monbl Augenheilkd; 2012 Oct; 229(10):1009-17. PubMed ID: 23096145
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

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  • 4. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
    Lee CS, Jun I, Choi SI, Lee JH, Lee MG, Lee SC, Kim EK.
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8141-50. PubMed ID: 26720466
    [Abstract] [Full Text] [Related]

  • 5. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
    Kubota D, Gocho K, Akeo K, Kikuchi S, Sugahara M, Matsumoto CS, Shinoda K, Mizota A, Yamaki K, Takahashi H, Kameya S.
    Doc Ophthalmol; 2016 Jun; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 6. New best1 mutations in autosomal recessive bestrophinopathy.
    Fung AT, Yzer S, Goldberg N, Wang H, Nissen M, Giovannini A, Merriam JE, Bukanova EN, Cai C, Yannuzzi LA, Tsang SH, Allikmets R.
    Retina; 2015 Apr; 35(4):773-82. PubMed ID: 25545482
    [Abstract] [Full Text] [Related]

  • 7. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
    Toto L, Boon CJ, Di Antonio L, Battaglia Parodi M, Mastropasqua R, Antonucci I, Stuppia L, Mastropasqua L.
    Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
    [Abstract] [Full Text] [Related]

  • 8. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
    Crowley C, Paterson R, Lamey T, McLaren T, De Roach J, Chelva E, Khan J.
    Doc Ophthalmol; 2014 Aug; 129(1):57-63. PubMed ID: 24859690
    [Abstract] [Full Text] [Related]

  • 9. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
    Sharon D, Al-Hamdani S, Engelsberg K, Mizrahi-Meissonnier L, Obolensky A, Banin E, Sander B, Jensen H, Larsen M, Schatz P.
    Am J Ophthalmol; 2014 Mar; 157(3):697-709.e1-2. PubMed ID: 24345323
    [Abstract] [Full Text] [Related]

  • 10. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
    Pfister TA, Zein WM, Cukras CA, Sen HN, Maldonado RS, Huryn LA, Hufnagel RB.
    Invest Ophthalmol Vis Sci; 2021 May 03; 62(6):22. PubMed ID: 34015078
    [Abstract] [Full Text] [Related]

  • 11. Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
    Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH.
    Ophthalmic Genet; 2016 Jun 03; 37(2):201-8. PubMed ID: 26771239
    [Abstract] [Full Text] [Related]

  • 12. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Jun 03; 20():1594-604. PubMed ID: 25489231
    [Abstract] [Full Text] [Related]

  • 13. Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.
    Bianco L, Arrigo A, Antropoli A, Saladino A, Aragona E, Bandello F, Parodi MB.
    Ophthalmic Genet; 2024 Feb 03; 45(1):44-50. PubMed ID: 37041716
    [Abstract] [Full Text] [Related]

  • 14. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).
    Gerth C, Zawadzki RJ, Werner JS, Héon E.
    Doc Ophthalmol; 2009 Jun 03; 118(3):239-46. PubMed ID: 18985398
    [Abstract] [Full Text] [Related]

  • 15. Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
    Tian L, Sun T, Xu K, Zhang X, Peng X, Li Y.
    Invest Ophthalmol Vis Sci; 2017 Jul 01; 58(9):3366-3375. PubMed ID: 28687848
    [Abstract] [Full Text] [Related]

  • 16. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
    Schatz P, Bitner H, Sander B, Holfort S, Andreasson S, Larsen M, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep 01; 51(9):4754-65. PubMed ID: 20375334
    [Abstract] [Full Text] [Related]

  • 17. Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
    Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M.
    Ophthalmology; 2021 May 01; 128(5):706-718. PubMed ID: 33039401
    [Abstract] [Full Text] [Related]

  • 18. Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.
    Tekin K, Dulger SC, Horozoglu Ceran T, Inanc M, Ozdal PC, Teke MY.
    J Fr Ophtalmol; 2024 Jun 01; 47(6):104097. PubMed ID: 38518704
    [Abstract] [Full Text] [Related]

  • 19. Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
    Shah M, Broadgate S, Shanks M, Clouston P, Yu J, MacLaren RE, Németh AH, Halford S, Downes SM.
    JAMA Ophthalmol; 2020 May 01; 138(5):544-551. PubMed ID: 32239196
    [Abstract] [Full Text] [Related]

  • 20. The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
    Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Querques L, Rozet JM, Kaplan J, Souied EH.
    Invest Ophthalmol Vis Sci; 2011 Jun 28; 52(7):4678-84. PubMed ID: 21436265
    [Abstract] [Full Text] [Related]

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