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Journal Abstract Search

207 related items for PubMed ID: 14611946

  • 1. Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
    Sitorus RS, Lorenz B, Preising MN.
    Vision Res; 2003 Dec; 43(28):3087-93. PubMed ID: 14611946
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  • 5. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
    Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I.
    Ophthalmic Genet; 2004 Sep; 25(3):205-17. PubMed ID: 15512997
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  • 7. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
    Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier JL, Munnich A, Kaplan J.
    Am J Hum Genet; 1999 Apr; 64(4):1225-8. PubMed ID: 10090910
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  • 8. Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
    Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM.
    Arch Ophthalmol; 2000 Apr; 118(4):538-43. PubMed ID: 10766140
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  • 9. Mutation survey of known LCA genes and loci in the Saudi Arabian population.
    Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R.
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1336-43. PubMed ID: 18936139
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  • 10. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
    Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S.
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4284-90. PubMed ID: 17724218
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  • 11. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
    Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1167-76. PubMed ID: 16505055
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  • 12. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
    Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M.
    Invest Ophthalmol Vis Sci; 2010 May; 51(5):2608-14. PubMed ID: 19959640
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  • 15. Mutational analysis and clinical correlation in Leber congenital amaurosis.
    Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH.
    Ophthalmic Genet; 2000 Sep; 21(3):135-50. PubMed ID: 11035546
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  • 18. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
    Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM.
    Ophthalmology; 2010 Jun; 117(6):1190-8. PubMed ID: 20079931
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