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223 related items for PubMed ID: 17698758

  • 1. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
    Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Aug; 125(8):1100-6. PubMed ID: 17698758
    [Abstract] [Full Text] [Related]

  • 2. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
    Meunier I, Sénéchal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, Manes G, Chazalette D, Mazoir E, Bocquet B, Hamel CP.
    Ophthalmology; 2011 Jun; 118(6):1130-6. PubMed ID: 21269699
    [Abstract] [Full Text] [Related]

  • 3. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.
    Zhuk SA, Edwards AO.
    Mol Vis; 2006 Jul 24; 12():811-5. PubMed ID: 16885924
    [Abstract] [Full Text] [Related]

  • 4. Morphology and functional characteristics in adult vitelliform macular dystrophy.
    Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH.
    Retina; 2004 Dec 24; 24(6):929-39. PubMed ID: 15579992
    [Abstract] [Full Text] [Related]

  • 5. Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
    Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M.
    Br J Ophthalmol; 2012 May 24; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 6. Central areolar choroidal dystrophy.
    Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB.
    Ophthalmology; 2009 Apr 24; 116(4):771-82, 782.e1. PubMed ID: 19243827
    [Abstract] [Full Text] [Related]

  • 7. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
    Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ.
    Br J Ophthalmol; 2007 Nov 24; 91(11):1504-11. PubMed ID: 17504850
    [Abstract] [Full Text] [Related]

  • 8. Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.
    Sears JE, Aaberg TA, Daiger SP, Moshfeghi DM.
    Am J Ophthalmol; 2001 Nov 24; 132(5):693-9. PubMed ID: 11704030
    [Abstract] [Full Text] [Related]

  • 9. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.
    Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R.
    Ophthalmology; 2001 Nov 24; 108(11):2060-7. PubMed ID: 11713080
    [Abstract] [Full Text] [Related]

  • 10. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
    Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.
    Ophthalmology; 2005 Sep 24; 112(9):1592-8. PubMed ID: 16019073
    [Abstract] [Full Text] [Related]

  • 11. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
    Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.
    Invest Ophthalmol Vis Sci; 2011 Mar 01; 52(3):1557-66. PubMed ID: 21071739
    [Abstract] [Full Text] [Related]

  • 12. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 01; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
    Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.
    Am J Ophthalmol; 2009 Mar 01; 147(3):518-530.e1. PubMed ID: 19038374
    [Abstract] [Full Text] [Related]

  • 14. Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism.
    Jaouni T, Averbukh E, Burstyn-Cohen T, Grunin M, Banin E, Sharon D, Chowers I.
    Arch Ophthalmol; 2012 Aug 01; 130(8):987-91. PubMed ID: 22893068
    [Abstract] [Full Text] [Related]

  • 15. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2002 Jun 01; 109(6):1110-7. PubMed ID: 12045052
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
    Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S, Abitbol M.
    Mol Vis; 2011 Jan 29; 17():309-22. PubMed ID: 21293734
    [Abstract] [Full Text] [Related]

  • 17. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
    van Lith-Verhoeven JJ, Cremers FP, van den Helm B, Hoyng CB, Deutman AF.
    Mol Vis; 2003 Apr 24; 9():138-43. PubMed ID: 12724643
    [Abstract] [Full Text] [Related]

  • 18. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
    Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.
    Ophthalmology; 1995 Feb 24; 102(2):246-55. PubMed ID: 7862413
    [Abstract] [Full Text] [Related]

  • 19. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.
    Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M.
    Retina; 1996 Feb 24; 16(5):405-10. PubMed ID: 8912967
    [Abstract] [Full Text] [Related]

  • 20. 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 24; 22(2):107-15. PubMed ID: 11449320
    [Abstract] [Full Text] [Related]

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