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Journal Abstract Search


216 related items for PubMed ID: 11913893

  • 1. Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
    Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC.
    Eye (Lond); 2002 Jan; 16(1):7-15. PubMed ID: 11913893
    [Abstract] [Full Text] [Related]

  • 2. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
    Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF.
    Nat Genet; 1999 Jun; 22(2):199-202. PubMed ID: 10369267
    [Abstract] [Full Text] [Related]

  • 3. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
    Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA.
    Hum Mol Genet; 2007 Oct 15; 16(20):2411-22. PubMed ID: 17666404
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  • 4. 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 15; 19(1):11-5. PubMed ID: 15218514
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  • 5. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
    Michaelides M, Jenkins SA, Brantley MA, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.
    Invest Ophthalmol Vis Sci; 2006 Jul 15; 47(7):3085-97. PubMed ID: 16799055
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  • 6. [Doyne retinal dystrophy--case report].
    Preda M, Damian C, Mănescu R, Davidescu L, Irimia A, Ciucă CA, Sollosy M.
    Oftalmologia; 2007 Jul 15; 51(2):37-40. PubMed ID: 17937032
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  • 7. Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.
    Guymer RH, McNeil R, Cain M, Tomlin B, Allen PJ, Dip CL, Baird PN.
    Clin Exp Ophthalmol; 2002 Dec 15; 30(6):419-23. PubMed ID: 12427233
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  • 10. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".
    Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW, Mollon JD, Moore AT.
    Br J Ophthalmol; 2005 Mar 15; 89(3):332-9. PubMed ID: 15722315
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  • 14. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.
    Valleix S, Nedelec B, Rigaudiere F, Dighiero P, Pouliquen Y, Renard G, Le Gargasson JF, Delpech M.
    Invest Ophthalmol Vis Sci; 2006 Jan 15; 47(1):48-54. PubMed ID: 16384943
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  • 15. Colour contrast sensitivity in patients with age-related Bruch's membrane changes.
    Holz FG, Gross-Jendroska M, Eckstein A, Hogg CR, Arden GB, Bird AC.
    Ger J Ophthalmol; 1995 Nov 15; 4(6):336-41. PubMed ID: 8751098
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  • 16. 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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  • 17. Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
    Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F.
    Retina; 2014 Dec 15; 34(12):2462-71. PubMed ID: 25111685
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  • 18. Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.
    Jacobson SG, Cideciyan AV, Wright E, Wright AF.
    Invest Ophthalmol Vis Sci; 2001 Jul 15; 42(8):1882-90. PubMed ID: 11431457
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  • 19. Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy.
    Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC.
    Invest Ophthalmol Vis Sci; 1992 Apr 15; 33(5):1633-6. PubMed ID: 1559761
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