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286 related items for PubMed ID: 16799055

  • 1. 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; 47(7):3085-97. PubMed ID: 16799055
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Fundus autofluorescence in Pseudoxanthoma elasticum.
    Finger RP, Charbel Issa P, Ladewig M, Götting C, Holz FG, Scholl HP.
    Retina; 2009 Jan 15; 29(10):1496-505. PubMed ID: 19823106
    [Abstract] [Full Text] [Related]

  • 5. Risk factors for choroidal neovascularization and geographic atrophy in the complications of age-related macular degeneration prevention trial.
    Complications of Age-related Macular Degeneration Prevention Trial (CAPT) Research GroupCAPT Coordinating Center, University of Pennsylvania, Philadelphia, PA 19104-3309, USA..
    Ophthalmology; 2008 Sep 15; 115(9):1474-9, 1479.e1-6. PubMed ID: 18502512
    [Abstract] [Full Text] [Related]

  • 6. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.
    Ophthalmology; 2005 Aug 15; 112(8):1442-7. PubMed ID: 15953638
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun 15; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

  • 9. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov 15; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

  • 10. Retinal structure, function, and molecular pathologic features in gyrate atrophy.
    Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR.
    Ophthalmology; 2012 Mar 15; 119(3):596-605. PubMed ID: 22182799
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 15; 22(2):199-202. PubMed ID: 10369267
    [Abstract] [Full Text] [Related]

  • 13. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
    Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.
    Br J Ophthalmol; 2005 Feb 15; 89(2):198-206. PubMed ID: 15665353
    [Abstract] [Full Text] [Related]

  • 14. Fundus autofluorescence in age-related macular disease imaged with a laser scanning ophthalmoscope.
    von Rückmann A, Fitzke FW, Bird AC.
    Invest Ophthalmol Vis Sci; 1997 Feb 15; 38(2):478-86. PubMed ID: 9040481
    [Abstract] [Full Text] [Related]

  • 15. A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
    Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H.
    Invest Ophthalmol Vis Sci; 2010 Mar 15; 51(3):1643-50. PubMed ID: 19850834
    [Abstract] [Full Text] [Related]

  • 16. [Macular drusen. Changes in the retinal pigment epithelium and angiographic characteristics as prognostic markers].
    Holz FG, Wolfensberger TJ, Piguet B, Minassian D, Bird AC.
    Ophthalmologe; 1994 Dec 15; 91(6):735-40. PubMed ID: 7849424
    [Abstract] [Full Text] [Related]

  • 17. Clinicopathologic correlation of drusen and retinal pigment epithelial abnormalities in age-related macular degeneration.
    Bressler NM, Silva JC, Bressler SB, Fine SL, Green WR.
    Retina; 1994 Dec 15; 14(2):130-42. PubMed ID: 8036323
    [Abstract] [Full Text] [Related]

  • 18. Fundus autofluorescence in patients with pseudoxanthoma elasticum.
    Sawa M, Ober MD, Freund KB, Spaide RF.
    Ophthalmology; 2006 May 15; 113(5):814-20.e2. PubMed ID: 16650677
    [Abstract] [Full Text] [Related]

  • 19. [Familial drusen of the macula].
    Käsmann B, Völcker HE.
    Fortschr Ophthalmol; 1990 May 15; 87(6):567-70. PubMed ID: 2086395
    [Abstract] [Full Text] [Related]

  • 20. Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.
    Michaelides M, Jenkins SA, Bamiou DE, Sweeney MG, Davis MB, Luxon L, Bird AC, Rath PP.
    Arch Ophthalmol; 2008 Mar 15; 126(3):320-8. PubMed ID: 18332310
    [Abstract] [Full Text] [Related]

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