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213 related items for PubMed ID: 30498755

  • 1. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
    Gao T, Tian C, Hu Q, Liu Z, Zou J, Huang L, Zhao M.
    Biomed Res Int; 2018; 2018():4582816. PubMed ID: 30498755
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
    Gao FJ, Qi YH, Hu FY, Wang DD, Xu P, Guo JL, Li JK, Zhang YJ, Li W, Chen F, Xu GZ, Liu W, Chang Q, Wu JH.
    Br J Ophthalmol; 2020 Jun 01; 104(6):846-851. PubMed ID: 31519547
    [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 01; 216():69-79. PubMed ID: 32278767
    [Abstract] [Full Text] [Related]

  • 5. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Aug 01; 20():1594-604. PubMed ID: 25489231
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
    Nguyen TT, Poornachandra B, Verma A, Mehta RA, Phalke S, Battu R, Ramprasad VL, Peterson AS, Ghosh A, Seshagiri S.
    Sci Rep; 2018 Jul 05; 8(1):10176. PubMed ID: 29976937
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 47(8):1063-1073. PubMed ID: 31254423
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
    Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E.
    Acta Ophthalmol; 2022 May 01; 100(3):e847-e858. PubMed ID: 34327816
    [Abstract] [Full Text] [Related]

  • 12. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb 01; 45(1):38-43. PubMed ID: 36908234
    [Abstract] [Full Text] [Related]

  • 13. The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
    Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Mauro L, Pina A, Bandello F, Battaglia Parodi M.
    Ophthalmol Retina; 2024 Mar 01; 8(3):288-297. PubMed ID: 37717827
    [Abstract] [Full Text] [Related]

  • 14. Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
    Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q.
    Exp Eye Res; 2022 Oct 01; 223():109217. PubMed ID: 35973442
    [Abstract] [Full Text] [Related]

  • 15. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W.
    Mol Genet Genomic Med; 2023 Jan 01; 11(1):e2095. PubMed ID: 36378562
    [Abstract] [Full Text] [Related]

  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, MacDonald IM, Lee T, Lawrence J.
    ; 1993 Jan 01. PubMed ID: 20301346
    [Abstract] [Full Text] [Related]

  • 17. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
    Sodi A, Menchini F, Manitto MP, Passerini I, Murro V, Torricelli F, Menchini U.
    Mol Vis; 2011 Jan 01; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
    Johnson AA, Lee YS, Chadburn AJ, Tammaro P, Manson FD, Marmorstein LY, Marmorstein AD.
    Exp Eye Res; 2014 Apr 24; 121():74-85. PubMed ID: 24560797
    [Abstract] [Full Text] [Related]

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