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Journal Abstract Search

216 related items for PubMed ID: 10798642

  • 1. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
    Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 May; 41(6):1291-6. PubMed ID: 10798642
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  • 2. 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; 8(4):286-92. PubMed ID: 10854112
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  • 3. 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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  • 4. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
    White K, Marquardt A, Weber BH.
    Hum Mutat; 2000 Sep; 15(4):301-8. PubMed ID: 10737974
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  • 6. 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
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  • 7. Analysis of the EFEMP1 gene in individuals and families with early onset drusen.
    Narendran N, Guymer RH, Cain M, Baird PN.
    Eye (Lond); 2005 Jan; 19(1):11-5. PubMed ID: 15218514
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  • 8. 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
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  • 9. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
    Schatz P, Klar J, Andréasson S, Ponjavic V, Dahl N.
    Ophthalmic Genet; 2006 Jun 15; 27(2):51-6. PubMed ID: 16754206
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  • 12. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis.
    Morcuende JA, Minhas R, Dolan L, Stevens J, Beck J, Wang K, Weinstein SL, Sheffield V.
    Spine (Phila Pa 1976); 2003 Sep 01; 28(17):2025-8; discussion 2029. PubMed ID: 12973153
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  • 14. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
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  • 17. Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration.
    Baird PN, Islam FM, Richardson AJ, Cain M, Hunt N, Guymer R.
    Invest Ophthalmol Vis Sci; 2006 Oct 01; 47(10):4194-8. PubMed ID: 17003406
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  • 20. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
    Seitsonen S, Lemmelä S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Järvelä I.
    Mol Vis; 2006 Jul 20; 12():796-801. PubMed ID: 16885922
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