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106 related items for PubMed ID: 10682987

  • 1. 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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  • 2. 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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  • 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; 35(6):408-10. PubMed ID: 16865191
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  • 7. 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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  • 8. 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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  • 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
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  • 12. 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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  • 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; 8(4):286-92. PubMed ID: 10854112
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  • 14. 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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  • 15. 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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  • 16. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
    White K, Marquardt A, Weber BH.
    Hum Mutat; 2000 May 15; 15(4):301-8. PubMed ID: 10737974
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  • 18. 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 15; 104(6):449-53. PubMed ID: 10453731
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  • 19. Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
    Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH, Kellner U.
    Ophthalmology; 2005 Apr 15; 112(4):586-92. PubMed ID: 15808248
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  • 20. [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 15; 44(4):321-6. PubMed ID: 18844018
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