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888 related items for PubMed ID: 16935340

  • 1. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.
    Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 2. 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; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

  • 3. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing.
    Vajaranant TS, Fishman GA, Szlyk JP, Grant-Jordan P, Lindeman M, Seiple W.
    Ophthalmology; 2008 Apr; 115(4):723-9. PubMed ID: 18201765
    [Abstract] [Full Text] [Related]

  • 4. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555
    [Abstract] [Full Text] [Related]

  • 5. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
    Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U.
    Arch Ophthalmol; 2009 Jul; 127(7):907-12. PubMed ID: 19597113
    [Abstract] [Full Text] [Related]

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

  • 7. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 8. Cone dystrophies: clinical and electrophysiological findings.
    Kellner U, Kleine-Hartlage P, Foerster MH.
    Ger J Ophthalmol; 1992 Nov; 1(2):105-9. PubMed ID: 1477624
    [Abstract] [Full Text] [Related]

  • 9. Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
    Tyni T, Kivelä T, Lappi M, Summanen P, Nikoskelainen E, Pihko H.
    Ophthalmology; 1998 May; 105(5):810-24. PubMed ID: 9593380
    [Abstract] [Full Text] [Related]

  • 10. 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; 112(8):1442-7. PubMed ID: 15953638
    [Abstract] [Full Text] [Related]

  • 11. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.
    Ophthalmology; 1999 Jun; 106(6):1101-8. PubMed ID: 10366077
    [Abstract] [Full Text] [Related]

  • 12. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 13. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
    Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):3884-92. PubMed ID: 20220053
    [Abstract] [Full Text] [Related]

  • 14. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [Abstract] [Full Text] [Related]

  • 15. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
    Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE.
    Retina; 2010 Jan; 30(1):51-62. PubMed ID: 19952985
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.
    Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B.
    Ophthalmic Genet; 2003 Dec; 24(4):203-14. PubMed ID: 14566650
    [Abstract] [Full Text] [Related]

  • 17. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
    Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW.
    Br J Ophthalmol; 2008 Jan; 92(1):95-102. PubMed ID: 17962389
    [Abstract] [Full Text] [Related]

  • 18. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
    [Abstract] [Full Text] [Related]

  • 19. 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 29; 89(3):332-9. PubMed ID: 15722315
    [Abstract] [Full Text] [Related]

  • 20. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
    Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep 29; 49(9):4096-104. PubMed ID: 18487380
    [Abstract] [Full Text] [Related]


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