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Journal Abstract Search

433 related items for PubMed ID: 17320181

  • 21. Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.
    Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 1995 Feb; 113(2):195-201. PubMed ID: 7864751
    [Abstract] [Full Text] [Related]

  • 22. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
    Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J.
    Invest Ophthalmol Vis Sci; 2018 Oct 01; 59(12):5225-5236. PubMed ID: 30372751
    [Abstract] [Full Text] [Related]

  • 23. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 01; 118(5):888-94. PubMed ID: 21211845
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  • 24. 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 01; 116(6):1201-9.e1-2. PubMed ID: 19376587
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  • 25. Clinical and molecular characterization of enhanced S-cone syndrome in children.
    Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT.
    JAMA Ophthalmol; 2014 Nov 01; 132(11):1341-9. PubMed ID: 25079116
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  • 29. 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 01; 112(8):1442-7. PubMed ID: 15953638
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  • 30. Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.
    Tzekov RT, Liu Y, Sohocki MM, Zack DJ, Daiger SP, Heckenlively JR, Birch DG.
    Invest Ophthalmol Vis Sci; 2001 May 01; 42(6):1319-27. PubMed ID: 11328746
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  • 31. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Aug 01; 41(9):2735-42. PubMed ID: 10937591
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  • 34. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.
    Ophthalmology; 2007 Jan 01; 114(1):134-41. PubMed ID: 17070587
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  • 36. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr 01; 120(4):809-20. PubMed ID: 23290749
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  • 38. [Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
    Preising MN, Paunescu K, Friedburg C, Lorenz B.
    Ophthalmologe; 2007 Jun 01; 104(6):490-8. PubMed ID: 17525851
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  • 39. 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 01; 51(8):3884-92. PubMed ID: 20220053
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  • 40. A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
    Oh JK, Nuzbrokh Y, Lee W, Lima de Carvalho JR, Wang NK, Sparrow JR, Allikmets R, Tsang SH.
    Eur J Ophthalmol; 2022 Jan 01; 32(1):NP235-NP239. PubMed ID: 32927963
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