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190 related items for PubMed ID: 15218514

  • 1. 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; 19(1):11-5. PubMed ID: 15218514
    [Abstract] [Full Text] [Related]

  • 2. 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; 30(6):419-23. PubMed ID: 12427233
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
    Marmorstein L.
    Ophthalmic Genet; 2004 Sep 15; 25(3):219-26. PubMed ID: 15512998
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
    Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 May 15; 41(6):1291-6. PubMed ID: 10798642
    [Abstract] [Full Text] [Related]

  • 8. EFEMP1 is not associated with sporadic early onset drusen.
    Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH.
    Ophthalmic Genet; 2001 Mar 15; 22(1):27-34. PubMed ID: 11262647
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 16(1):7-15. PubMed ID: 11913893
    [Abstract] [Full Text] [Related]

  • 10. Dominant radial drusen and Arg345Trp EFEMP1 mutation.
    Matsumoto M, Traboulsi EI.
    Am J Ophthalmol; 2001 Jun 15; 131(6):810-2. PubMed ID: 11384588
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Fifteen-year cumulative incidence of age-related macular degeneration: the Beaver Dam Eye Study.
    Klein R, Klein BE, Knudtson MD, Meuer SM, Swift M, Gangnon RE.
    Ophthalmology; 2007 Feb 15; 114(2):253-62. PubMed ID: 17270675
    [Abstract] [Full Text] [Related]

  • 13. Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis).
    Umeda S, Suzuki MT, Okamoto H, Ono F, Mizota A, Terao K, Yoshikawa Y, Tanaka Y, Iwata T.
    FASEB J; 2005 Oct 15; 19(12):1683-5. PubMed ID: 16099945
    [Abstract] [Full Text] [Related]

  • 14. Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.
    Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T.
    Invest Ophthalmol Vis Sci; 2005 Feb 15; 46(2):683-91. PubMed ID: 15671300
    [Abstract] [Full Text] [Related]

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  • 17. 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 15; 29(3):139-44. PubMed ID: 18766995
    [Abstract] [Full Text] [Related]

  • 18. A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.
    McKay GJ, Clarke S, Hughes A, McConnell V, Schultz DW, Klein ML, Silvestri G, Simpson DA.
    Mol Vis; 2004 Sep 24; 10():682-7. PubMed ID: 15467524
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  • 20. Characteristics of progression of early age-related macular degeneration: the cardiovascular health and age-related maculopathy study.
    Tikellis G, Robman LD, Dimitrov P, Nicolas C, McCarty CA, Guymer RH.
    Eye (Lond); 2007 Feb 24; 21(2):169-76. PubMed ID: 16732219
    [Abstract] [Full Text] [Related]

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