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Journal Abstract Search

232 related items for PubMed ID: 24859690

  • 1. 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
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 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
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  • 11. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Apr; 20():1594-604. PubMed ID: 25489231
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  • 12. 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
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  • 13. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.
    Wittström E, Ponjavic V, Bondeson ML, Andréasson S.
    Ophthalmic Genet; 2011 Nov 01; 32(4):217-27. PubMed ID: 21473666
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  • 14. 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
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  • 15. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
    Luo J, Lin M, Guo X, Xiao X, Li J, Hu H, Xiao H, Xu X, Zhong Y, Long S, Luo G, Mi L, Chen X, Fang L, Wei W, Zhang Q, Liu X.
    Acta Ophthalmol; 2019 May 03; 97(3):247-259. PubMed ID: 30593719
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  • 16. Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
    Soto-Sierra M, Morillo-Sánchez MJ, Martín-Sánchez M, Ramos-Jiménez M, López-Domínguez M, Ponte-Zuñiga B, Antiñolo G, Rodríguez-de-la-Rúa E.
    Eur J Ophthalmol; 2022 Sep 03; 32(5):NP77-NP81. PubMed ID: 33866859
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  • 17. 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 03; 157(3):697-709.e1-2. PubMed ID: 24345323
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  • 18. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
    Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP, Ahmad T.
    BMC Ophthalmol; 2022 Dec 16; 22(1):493. PubMed ID: 36527004
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  • 19. [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 16; 229(10):1009-17. PubMed ID: 23096145
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  • 20. 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 16; 47(6):104097. PubMed ID: 38518704
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