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Journal Abstract Search

118 related items for PubMed ID: 12324875

  • 1. 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
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  • 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
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  • 3. 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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  • 4. 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; 7(9):1517-25. PubMed ID: 9700209
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  • 5. 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
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  • 8. 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
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  • 9. 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
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  • 10. Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.
    Hou YC, Richards JE, Bingham EL, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA.
    Hum Hered; 1996 Mar; 46(4):211-20. PubMed ID: 8807324
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  • 11. 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
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  • 12. 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
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  • 14. [Best's disease with normal EOG. Case report of familial macular dystrophy].
    Pollack K, Kreuz FR, Pillunat LE.
    Ophthalmologe; 2005 Sep; 102(9):891-4. PubMed ID: 15657694
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  • 17. 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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  • 18. A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region.
    Stöhr H, Weber BH.
    Hum Genet; 1995 Feb; 95(2):219-22. PubMed ID: 7860071
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