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Journal Abstract Search

213 related items for PubMed ID: 30498755

  • 21. Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
    Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF.
    Int J Mol Sci; 2020 Feb 26; 21(5):. PubMed ID: 32111077
    [Abstract] [Full Text] [Related]

  • 22. 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 26; 39(8):1613-1622. PubMed ID: 29781975
    [Abstract] [Full Text] [Related]

  • 23. 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 26; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 24. 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 26; 97(3):247-259. PubMed ID: 30593719
    [Abstract] [Full Text] [Related]

  • 25. Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
    Hufendiek K, Hufendiek K, Jägle H, Stöhr H, Book M, Spital G, Rustambayova G, Framme C, Weber BHF, Renner AB, Kellner U.
    Int J Mol Sci; 2020 Dec 08; 21(24):. PubMed ID: 33302512
    [Abstract] [Full Text] [Related]

  • 26. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.
    Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S.
    Ophthalmic Genet; 2017 Dec 08; 38(6):570-574. PubMed ID: 28481155
    [Abstract] [Full Text] [Related]

  • 27. Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
    Miyagi M, Takeuchi J, Koyanagi Y, Mizobuchi K, Hayashi T, Ito Y, Terasaki H, Nishiguchi KM, Ueno S.
    Graefes Arch Clin Exp Ophthalmol; 2022 Apr 08; 260(4):1125-1137. PubMed ID: 34661736
    [Abstract] [Full Text] [Related]

  • 28. Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.
    Ye P, Xu J, Luo Y, Su Z, Yao K.
    BMC Med Genet; 2020 Jan 22; 21(1):16. PubMed ID: 31969119
    [Abstract] [Full Text] [Related]

  • 29. 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 22; 129(1):57-63. PubMed ID: 24859690
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
    Wivestad Jansson R, Berland S, Bredrup C, Austeng D, Andréasson S, Wittström E.
    Ophthalmic Genet; 2016 Jun 29; 37(2):183-93. PubMed ID: 26333019
    [Abstract] [Full Text] [Related]

  • 32. 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 Jun 29; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 33. 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 29; 17(1):225-233. PubMed ID: 29115605
    [Abstract] [Full Text] [Related]

  • 34. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
    Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, Matri KE, Matri LE, Schorderet DF.
    Genes (Basel); 2019 Nov 21; 10(12):. PubMed ID: 31766397
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells.
    Gao T, Tian C, Xu H, Tang X, Huang L, Zhao M.
    Graefes Arch Clin Exp Ophthalmol; 2020 Oct 22; 258(10):2251-2261. PubMed ID: 32507900
    [Abstract] [Full Text] [Related]

  • 37. Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy.
    Wong RL, Hou P, Choy KW, Chiang SW, Tam PO, Li H, Chan WM, Lam DS, Pang CP, Lai TY.
    Retina; 2010 May 22; 30(5):820-7. PubMed ID: 20057343
    [Abstract] [Full Text] [Related]

  • 38. Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
    Laich Y, Georgiou M, Fujinami K, Daich Varela M, Fujinami-Yokokawa Y, Hashem SA, Cabral de Guimaraes TA, Mahroo OA, Webster AR, Michaelides M.
    Ophthalmology; 2024 Jul 22; 131(7):845-854. PubMed ID: 38278445
    [Abstract] [Full Text] [Related]

  • 39. 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 22; 56(13):8141-50. PubMed ID: 26720466
    [Abstract] [Full Text] [Related]

  • 40. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
    Kinnick TR, Mullins RF, Dev S, Leys M, Mackey DA, Kay CN, Lam BL, Fishman GA, Traboulsi E, Iezzi R, Stone EM.
    Retina; 2011 Mar 22; 31(3):581-95. PubMed ID: 21273940
    [Abstract] [Full Text] [Related]

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