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114 related items for PubMed ID: 16865191

  • 1. 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]

  • 2. 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; 22(2):107-15. PubMed ID: 11449320
    [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. 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; 29(3):139-44. PubMed ID: 18766995
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  • 5. [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]

  • 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. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
    Marchant D, Gogat K, Boutboul S, Péquignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M.
    Hum Mutat; 2001 Mar; 17(3):235. PubMed ID: 11241846
    [Abstract] [Full Text] [Related]

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

  • 9. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
    Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M.
    Ophthalmic Genet; 2002 Sep; 23(3):167-74. PubMed ID: 12324875
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Novel de novo mutation in a patient with Best macular dystrophy.
    Apushkin MA, Fishman GA, Taylor CM, Stone EM.
    Arch Ophthalmol; 2006 Jun 29; 124(6):887-9. PubMed ID: 16769844
    [Abstract] [Full Text] [Related]

  • 13. 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 29; 8(4):286-92. PubMed ID: 10854112
    [Abstract] [Full Text] [Related]

  • 14. 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 29; 44(3):e70. PubMed ID: 17287362
    [Abstract] [Full Text] [Related]

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  • 16. 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
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  • 19. 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]

  • 20. 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 15; 30(5):820-7. PubMed ID: 20057343
    [Abstract] [Full Text] [Related]

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