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6. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene. Hahn LC; Georgiou M; Almushattat H; van Schooneveld MJ; de Carvalho ER; Wesseling NL; Ten Brink JB; Florijn RJ; Lissenberg-Witte BI; Strubbe I; van Cauwenbergh C; de Zaeytijd J; Walraedt S; de Baere E; Mukherjee R; McKibbin M; Meester-Smoor MA; Thiadens AAHJ; Al-Khuzaei S; Akyol E; Lotery AJ; van Genderen MM; Ossewaarde-van Norel J; van den Born LI; Hoyng CB; Klaver CCW; Downes SM; Bergen AA; Leroy BP; Michaelides M; Boon CJF Ophthalmol Retina; 2022 Aug; 6(8):711-722. PubMed ID: 35314386 [TBL] [Abstract][Full Text] [Related]
7. Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence. Sumaroka A; Garafalo AV; Semenov EP; Sheplock R; Krishnan AK; Roman AJ; Jacobson SG; Cideciyan AV Invest Ophthalmol Vis Sci; 2019 Jun; 60(7):2551-2562. PubMed ID: 31212307 [TBL] [Abstract][Full Text] [Related]
8. Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. Jacobson SG; Cideciyan AV; Sumaroka A; Roman AJ; Charng J; Lu M; Choi W; Sheplock R; Swider M; Kosyk MS; Schwartz SB; Stone EM; Fishman GA Invest Ophthalmol Vis Sci; 2017 May; 58(5):2609-2622. PubMed ID: 28510626 [TBL] [Abstract][Full Text] [Related]
9. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. Jacobson SG; Cideciyan AV; Sumaroka A; Roman AJ; Charng J; Lu M; Choudhury S; Schwartz SB; Heon E; Fishman GA; Boye SE Am J Ophthalmol; 2017 May; 177():44-57. PubMed ID: 28212877 [TBL] [Abstract][Full Text] [Related]
10. Leber Congenital Amaurosis Due to Jacobson SG; Cideciyan AV; Sumaroka A; Roman AJ; Wu V; Swider M; Sheplock R; Krishnan AK; Garafalo AV Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33670772 [TBL] [Abstract][Full Text] [Related]
11. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Cideciyan AV; Rachel RA; Aleman TS; Swider M; Schwartz SB; Sumaroka A; Roman AJ; Stone EM; Jacobson SG; Swaroop A Hum Mol Genet; 2011 Apr; 20(7):1411-23. PubMed ID: 21245082 [TBL] [Abstract][Full Text] [Related]
12. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy. Boye SE; Huang WC; Roman AJ; Sumaroka A; Boye SL; Ryals RC; Olivares MB; Ruan Q; Tucker BA; Stone EM; Swaroop A; Cideciyan AV; Hauswirth WW; Jacobson SG PLoS One; 2014; 9(3):e92928. PubMed ID: 24671090 [TBL] [Abstract][Full Text] [Related]
13. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Jacobson SG; Aleman TS; Cideciyan AV; Roman AJ; Sumaroka A; Windsor EA; Schwartz SB; Heon E; Stone EM Invest Ophthalmol Vis Sci; 2009 May; 50(5):2368-75. PubMed ID: 19117922 [TBL] [Abstract][Full Text] [Related]
15. 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 [TBL] [Abstract][Full Text] [Related]
16. Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis. Li S; Samardzija M; Yang Z; Grimm C; Jin M J Neurosci; 2016 May; 36(21):5808-19. PubMed ID: 27225770 [TBL] [Abstract][Full Text] [Related]
17. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. Koenekoop RK; Fishman GA; Iannaccone A; Ezzeldin H; Ciccarelli ML; Baldi A; Sunness JS; Lotery AJ; Jablonski MM; Pittler SJ; Maumenee I Arch Ophthalmol; 2002 Oct; 120(10):1325-30. PubMed ID: 12365911 [TBL] [Abstract][Full Text] [Related]
18. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Stunkel ML; Brodie SE; Cideciyan AV; Pfeifer WL; Kennedy EL; Stone EM; Jacobson SG; Drack AV Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409 [TBL] [Abstract][Full Text] [Related]
19. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136 [TBL] [Abstract][Full Text] [Related]
20. Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease. Roman AJ; Cideciyan AV; Wu V; Garafalo AV; Jacobson SG Prog Retin Eye Res; 2022 Mar; 87():101000. PubMed ID: 34464742 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]