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198 related items for PubMed ID: 28791410

  • 1. Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
    Lin Y, Li T, Gao H, Lian Y, Chen C, Zhu Y, Li Y, Liu B, Zhou W, Jiang H, Liu X, Zhao X, Liang X, Jin C, Huang X, Lu L.
    Mol Med Rep; 2017 Oct; 16(4):4751-4755. PubMed ID: 28791410
    [Abstract] [Full Text] [Related]

  • 2. Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.
    Lin Y, Li T, Ma C, Gao H, Chen C, Zhu Y, Liu B, Lian Y, Huang Y, Li H, Wu Q, Liang X, Jin C, Huang X, Ye J, Lu L.
    Mol Med Rep; 2018 Jan; 17(1):225-233. PubMed ID: 29115605
    [Abstract] [Full Text] [Related]

  • 3. Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
    Lin Y, Gao H, Liu Y, Liang X, Liu X, Wang Z, Zhang W, Chen J, Lin Z, Huang X, Liu Y.
    Mol Med Rep; 2015 Aug; 12(2):2584-8. PubMed ID: 25936525
    [Abstract] [Full Text] [Related]

  • 4. 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; 216():69-79. PubMed ID: 32278767
    [Abstract] [Full Text] [Related]

  • 5. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
    Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S, Abitbol M.
    Mol Vis; 2011 Jan 29; 17():309-22. PubMed ID: 21293734
    [Abstract] [Full Text] [Related]

  • 6. 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 29; 47(8):1063-1073. PubMed ID: 31254423
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
    Guo J, Gao F, Tang W, Qi Y, Xuan Y, Liu W, Li L, Ye X, Xu G, Wu J, Zhang Y.
    Retina; 2019 Aug 01; 39(8):1613-1622. PubMed ID: 29781975
    [Abstract] [Full Text] [Related]

  • 9. Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
    Liu J, Zhang Y, Xuan Y, Liu W, Wang M.
    Ophthalmic Res; 2016 Aug 01; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 10. "Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".
    Garza-Garza LA, León-Cachón RBR, Aguirre-Garza M, Garza-Leon M.
    Ophthalmic Genet; 2020 Apr 01; 41(2):183-188. PubMed ID: 32207364
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. A novel mutation of BEST1 gene in Best disease.
    Campa C, Parmeggiani F, Spena R, Ognibene D, Passerini I, Gualandi F.
    Eur J Ophthalmol; 2021 May 01; 31(3):NP93-NP95. PubMed ID: 32321300
    [Abstract] [Full Text] [Related]

  • 13. Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.
    Jun I, Lee JS, Lee JH, Lee CS, Choi SI, Gee HY, Lee MG, Kim EK.
    Sci Rep; 2017 Aug 22; 7(1):9146. PubMed ID: 28831140
    [Abstract] [Full Text] [Related]

  • 14. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb 22; 45(1):38-43. PubMed ID: 36908234
    [Abstract] [Full Text] [Related]

  • 15. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 22; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 16. Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.
    Lin Y, Li T, Liu B, Lyu C, Lian Y, Li J, Huang Y, Li H, Wu Q, Jin C, Lu L.
    Exp Ther Med; 2021 Sep 22; 22(3):1034. PubMed ID: 34373720
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
    Katagiri S, Hayashi T, Ohkuma Y, Sekiryu T, Takeuchi T, Gekka T, Kondo M, Iwata T, Tsuneoka H.
    Br J Ophthalmol; 2015 Nov 18; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 20. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
    Piñeiro-Gallego T, Álvarez M, Pereiro I, Campos S, Sharon D, Schatz P, Valverde D.
    Mol Vis; 2011 Nov 18; 17():1607-17. PubMed ID: 21738390
    [Abstract] [Full Text] [Related]

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