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Journal Abstract Search

444 related items for PubMed ID: 23929416

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  • 2. A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
    Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI.
    Ophthalmology; 2012 Sep; 119(9):1899-906. PubMed ID: 22559933
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  • 7. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
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  • 8. Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
    Makiyama Y, Ooto S, Hangai M, Ogino K, Gotoh N, Oishi A, Yoshimura N.
    Am J Ophthalmol; 2014 Mar; 157(3):558-70.e1-4. PubMed ID: 24246574
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  • 9. 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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  • 11. 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 05; 120(6):1239-46. PubMed ID: 23499059
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  • 13. Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
    Burstedt MS, Golovleva I.
    Arch Ophthalmol; 2010 Aug 05; 128(8):989-95. PubMed ID: 20696998
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  • 14. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
    Nakamura M, Lin J, Ito Y, Miyake Y.
    Am J Ophthalmol; 2005 Jun 05; 139(6):1133-5. PubMed ID: 15953459
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  • 15. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
    Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O.
    Arch Ophthalmol; 2001 Feb 05; 119(2):260-7. PubMed ID: 11176989
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  • 16. Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
    Orosz O, Czeglédi M, Kántor I, Balogh I, Vajas A, Takács L, Berta A, Losonczy G.
    Mol Vis; 2015 Feb 05; 21():124-30. PubMed ID: 25684977
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  • 17. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.
    Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234
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  • 18. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
    Reinis A, Golovleva I, Köhn L, Sandgren O.
    Acta Ophthalmol; 2013 May 02; 91(3):259-66. PubMed ID: 22405330
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  • 19. Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens.
    Genead MA, Fishman GA, Lindeman M.
    Ophthalmic Genet; 2010 Jun 02; 31(2):66-72. PubMed ID: 20450307
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  • 20. Effect of disease stage on progression of hydroxychloroquine retinopathy.
    Marmor MF, Hu J.
    JAMA Ophthalmol; 2014 Sep 02; 132(9):1105-12. PubMed ID: 24922444
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