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150 related items for PubMed ID: 39048936

  • 1. Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
    Zhao D, Gu VY, Wang Y, Peng J, Lyu J, Fei P, Xu Y, Zhang X, Zhao P.
    BMC Ophthalmol; 2024 Jul 24; 24(1):308. PubMed ID: 39048936
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  • 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 24; 120(4):809-20. PubMed ID: 23290749
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  • 3. 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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  • 9. 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 03; 47(6):104097. PubMed ID: 38518704
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  • 11. 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 03; 132(3):233-43. PubMed ID: 27071392
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  • 12. The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.
    Xuan Y, Zhang Y, Zong Y, Wang M, Li L, Ye X, Liu W, Chen J, Sun X, Zhang Y, Chen Y.
    Am J Ophthalmol; 2020 Aug 03; 216():69-79. PubMed ID: 32278767
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  • 13. Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
    Jaffal L, Joumaa WH, Assi A, Helou C, Condroyer C, El Dor M, Cherfan G, Zeitz C, Audo I, Zibara K, El Shamieh S.
    Genes (Basel); 2019 Feb 18; 10(2):. PubMed ID: 30781664
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  • 19. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Feb 18; 20():1594-604. PubMed ID: 25489231
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  • 20. Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
    Chibani Z, Abid IZ, Molbaek A, Söderkvist P, Feki J, Hmani-Aifa M.
    Clin Exp Ophthalmol; 2019 Nov 18; 47(8):1063-1073. PubMed ID: 31254423
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