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Journal Abstract Search

236 related items for PubMed ID: 22405330

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  • 2. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
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  • 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; 112(8):1442-7. PubMed ID: 15953638
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  • 8. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
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  • 9. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
    Van Ghelue M, Eriksen HL, Ponjavic V, Fagerheim T, Andréasson S, Forsman-Semb K, Sandgren O, Holmgren G, Tranebjaerg L.
    Ophthalmic Genet; 2000 Dec; 21(4):197-209. PubMed ID: 11135490
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  • 12. An unusual retinal phenotype associated with a novel mutation in RHO.
    Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C.
    Arch Ophthalmol; 2010 Aug; 128(8):1036-45. PubMed ID: 20697005
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  • 13. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
    Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.
    JAMA Ophthalmol; 2013 Oct; 131(10):1314-23. PubMed ID: 23929416
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  • 15. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):70-9. PubMed ID: 20702822
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  • 18. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep 05; 38(10):1983-97. PubMed ID: 9331262
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  • 19. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
    van Huet RA, Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ.
    Acta Ophthalmol; 2015 Feb 05; 93(1):83-94. PubMed ID: 25385675
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  • 20. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan 05; 51(1):89-95. PubMed ID: 19797231
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