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Journal Abstract Search

326 related items for PubMed ID: 9700209

  • 1. 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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  • 2. The mutation spectrum of the bestrophin protein--functional implications.
    Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C.
    Hum Genet; 1999 May; 104(5):383-9. PubMed ID: 10394929
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  • 3. A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.
    Stöhr H, Marquardt A, Rivera A, Cooper PR, Nowak NJ, Shows TB, Gerhard DS, Weber BH.
    Genome Res; 1998 Jan; 8(1):48-56. PubMed ID: 9445487
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  • 4. Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.
    Stöhr H, Marquardt A, Rivera A, Kellner U, Weber BH.
    Eur J Hum Genet; 1998 Jan; 6(4):400-5. PubMed ID: 9781049
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  • 6. 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 Jan; 46(4):211-20. PubMed ID: 8807324
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  • 9. [VMD2 and its role in Best's disease and other retinopathies].
    Stöhr H, Milenkowic V, Weber BH.
    Ophthalmologe; 2005 Feb; 102(2):116-21. PubMed ID: 15627199
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  • 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; 22(2):107-15. PubMed ID: 11449320
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  • 12. 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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  • 13. Identification of the gene responsible for Best macular dystrophy.
    Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C.
    Nat Genet; 1998 Jul; 19(3):241-7. PubMed ID: 9662395
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  • 14. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
    Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC.
    Nat Genet; 1992 Jul; 1(4):246-50. PubMed ID: 1302019
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  • 15. The gene causing the Best's macular dystrophy (BMD) encodes a putative ion exchanger.
    Gómez A, Cedano J, Oliva B, Piñol J, Querol E.
    DNA Seq; 2001 Dec; 12(5-6):431-5. PubMed ID: 11913792
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  • 17. Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
    Mansergh FC, Kenna PF, Rudolph G, Meitinger T, Farrar GJ, Kumar-Singh R, Scorer J, Hally AM, Mynett-Johnson L, Humphries MM.
    J Med Genet; 1995 Nov; 32(11):855-8. PubMed ID: 8592326
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  • 18. Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.
    Graff C, Forsman K, Larsson C, Nordström S, Lind L, Johansson K, Sandgren O, Weissenbach J, Holmgren G, Gustavson KH.
    Genomics; 1994 Dec; 24(3):425-34. PubMed ID: 7713492
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  • 19. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
    White K, Marquardt A, Weber BH.
    Hum Mutat; 2000 Dec; 15(4):301-8. PubMed ID: 10737974
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  • 20. [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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