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Journal Abstract Search

124 related items for PubMed ID: 17646752

  • 1. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.
    Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F.
    J Fr Ophtalmol; 2007 Jun; 30(6):616-20. PubMed ID: 17646752
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 108(11):2060-7. PubMed ID: 11713080
    [Abstract] [Full Text] [Related]

  • 4. 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; 125(8):1100-6. PubMed ID: 17698758
    [Abstract] [Full Text] [Related]

  • 5. 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; 44(3):e70. PubMed ID: 17287362
    [Abstract] [Full Text] [Related]

  • 6. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
    Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M.
    Am J Ophthalmol; 2000 Feb; 129(2):260-2. PubMed ID: 10682987
    [Abstract] [Full Text] [Related]

  • 7. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
    Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K.
    Hum Genet; 1999 Jun; 104(6):449-53. PubMed ID: 10453731
    [Abstract] [Full Text] [Related]

  • 8. 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; 35(6):408-10. PubMed ID: 16865191
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 29; 127(7):913-20. PubMed ID: 19597114
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
    Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R.
    Genomics; 1999 May 15; 58(1):98-101. PubMed ID: 10331951
    [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 15; 23(2):129-33. PubMed ID: 12187431
    [Abstract] [Full Text] [Related]

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  • 15. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
    Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH.
    Eur J Hum Genet; 2000 Apr 15; 8(4):286-92. PubMed ID: 10854112
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  • 17. Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization.
    Frennesson CI, Wadelius C, Nilsson SE.
    Acta Ophthalmol; 2014 May 15; 92(3):238-42. PubMed ID: 23617333
    [Abstract] [Full Text] [Related]

  • 18. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
    Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH.
    Hum Mol Genet; 1998 Sep 15; 7(9):1517-25. PubMed ID: 9700209
    [Abstract] [Full Text] [Related]

  • 19. Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.
    Ponjavic V, Eksandh L, Andréasson S, Sjöström K, Bakall B, Ingvast S, Wadelius C, Ehinger B.
    Ophthalmic Genet; 1999 Dec 15; 20(4):251-7. PubMed ID: 10617923
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 29(3):139-44. PubMed ID: 18766995
    [Abstract] [Full Text] [Related]

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