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119 related items for PubMed ID: 18844018

  • 1. [Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].
    Ouyang YL, Zhang YJ, Xu GZ, Jiang R, Chen Q, Wang L.
    Zhonghua Yan Ke Za Zhi; 2008 Apr; 44(4):321-6. PubMed ID: 18844018
    [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. A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.
    Li Y, Wang G, Dong B, Sun X, Turner MJ, Kamaya S, Zhang K.
    Ann Acad Med Singap; 2006 Jun 29; 35(6):408-10. PubMed ID: 16865191
    [Abstract] [Full Text] [Related]

  • 4. 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 29; 30(5):820-7. PubMed ID: 20057343
    [Abstract] [Full Text] [Related]

  • 5. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.
    Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S.
    Ophthalmic Genet; 2001 Jun 29; 22(2):107-15. PubMed ID: 11449320
    [Abstract] [Full Text] [Related]

  • 6. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.
    Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R.
    Ophthalmology; 2001 Nov 29; 108(11):2060-7. PubMed ID: 11713080
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 8. 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 29; 29(6):835-47. PubMed ID: 19357557
    [Abstract] [Full Text] [Related]

  • 9. Phenotype and genotype correlations in two best families.
    Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA.
    Ophthalmology; 2003 Sep 29; 110(9):1724-31. PubMed ID: 13129869
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 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. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
    Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.
    J Med Genet; 2007 Mar 01; 44(3):e70. PubMed ID: 17287362
    [Abstract] [Full Text] [Related]

  • 13. Identification of a novel VMD2 mutation in Japanese patients with Best disease.
    Yanagi Y, Sekine H, Mori M.
    Ophthalmic Genet; 2002 Jun 01; 23(2):129-33. PubMed ID: 12187431
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 17(1):225-233. PubMed ID: 29115605
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 12(2):2584-8. PubMed ID: 25936525
    [Abstract] [Full Text] [Related]

  • 16. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
    Meunier I, Sénéchal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, Manes G, Chazalette D, Mazoir E, Bocquet B, Hamel CP.
    Ophthalmology; 2011 Jun 01; 118(6):1130-6. PubMed ID: 21269699
    [Abstract] [Full Text] [Related]

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

  • 18. Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
    Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.
    Ophthalmic Genet; 2008 Sep 01; 29(3):139-44. PubMed ID: 18766995
    [Abstract] [Full Text] [Related]

  • 19. 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 Sep 01; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
    Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Aug 01; 125(8):1100-6. PubMed ID: 17698758
    [Abstract] [Full Text] [Related]

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