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Journal Abstract Search

112 related items for PubMed ID: 14517959

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  • 2. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
    White K, Marquardt A, Weber BH.
    Hum Mutat; 2000; 15(4):301-8. PubMed ID: 10737974
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  • 4. 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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  • 7. 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; 112(4):586-92. PubMed ID: 15808248
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  • 14. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
    Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R.
    Invest Ophthalmol Vis Sci; 2001 Dec; 42(13):3331-6. PubMed ID: 11726641
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  • 15. Novel de novo mutation in a patient with Best macular dystrophy.
    Apushkin MA, Fishman GA, Taylor CM, Stone EM.
    Arch Ophthalmol; 2006 Jun; 124(6):887-9. PubMed ID: 16769844
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  • 16. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
    Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K.
    Am J Ophthalmol; 2004 Mar; 137(3):465-73. PubMed ID: 15013869
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  • 18. 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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  • 20. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.
    Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R.
    Genomics; 2004 Apr; 83(4):615-25. PubMed ID: 15028284
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