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Journal Abstract Search

253 related items for PubMed ID: 19597114

  • 1. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
    Sohn EH, Francis PJ, Duncan JL, Weleber RG, Saperstein DA, Farrell DF, Stone EM.
    Arch Ophthalmol; 2009 Jul; 127(7):913-20. PubMed ID: 19597114
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
    Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet JM, Kaplan J, Martinelli D, Delle Noci N, Soubrane G, Souied EH.
    Mol Vis; 2009 Dec 31; 15():2960-72. PubMed ID: 20057903
    [Abstract] [Full Text] [Related]

  • 4. A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.
    Peiretti E, Caminiti G, Forma G, Carboni G, Dhaenens CM, Querques L, Souied E, Querques G.
    Retina; 2016 Sep 31; 36(9):1733-40. PubMed ID: 26807628
    [Abstract] [Full Text] [Related]

  • 5. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
    Low S, Davidson AE, Holder GE, Hogg CR, Bhattacharya SS, Black GC, Foster PJ, Webster AR.
    Mol Vis; 2011 Sep 31; 17():2272-82. PubMed ID: 21921978
    [Abstract] [Full Text] [Related]

  • 6. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
    Schatz P, Bitner H, Sander B, Holfort S, Andreasson S, Larsen M, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep 31; 51(9):4754-65. PubMed ID: 20375334
    [Abstract] [Full Text] [Related]

  • 7. 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 31; 36(8):1586-95. PubMed ID: 26716959
    [Abstract] [Full Text] [Related]

  • 8. 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 31; 30(5):820-7. PubMed ID: 20057343
    [Abstract] [Full Text] [Related]

  • 9. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 31; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 10. Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
    Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB.
    Retina; 2009 Jun 31; 29(6):835-47. PubMed ID: 19357557
    [Abstract] [Full Text] [Related]

  • 11. 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 31; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 12. 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 Jun 31; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
    Glavač D, Jarc-Vidmar M, Vrabec K, Ravnik-Glavač M, Fakin A, Hawlina M.
    Acta Ophthalmol; 2016 Dec 31; 94(8):e786-e794. PubMed ID: 27775230
    [Abstract] [Full Text] [Related]

  • 14. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Dec 31; 20():1594-604. PubMed ID: 25489231
    [Abstract] [Full Text] [Related]

  • 15. The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
    Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Querques L, Rozet JM, Kaplan J, Souied EH.
    Invest Ophthalmol Vis Sci; 2011 Jun 28; 52(7):4678-84. PubMed ID: 21436265
    [Abstract] [Full Text] [Related]

  • 16. 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 28; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 18. Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
    Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M.
    Br J Ophthalmol; 2012 May 28; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 19. 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 28; 39(8):1613-1622. PubMed ID: 29781975
    [Abstract] [Full Text] [Related]

  • 20. Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.
    Qian CX, Charran D, Strong CR, Steffens TJ, Jayasundera T, Heckenlively JR.
    Ophthalmology; 2017 Apr 28; 124(4):456-463. PubMed ID: 28187978
    [Abstract] [Full Text] [Related]

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