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499 results

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Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH. Lee EJ, et al. Among authors: moore at. JCI Insight. 2020 Apr 9;5(7):e136041. doi: 10.1172/jci.insight.136041. JCI Insight. 2020. PMID: 32271167 Free PMC article. Clinical Trial.
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Mastey RR, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047. Invest Ophthalmol Vis Sci. 2019. PMID: 31237654 Free PMC article.
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: moore at. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Cideciyan AV, et al. Among authors: moore at. Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30. Hum Gene Ther. 2013. PMID: 24067079 Free PMC article.
A prospective longitudinal study of retinal structure and function in achromatopsia.
Aboshiha J, Dubis AM, Cowing J, Fahy RT, Sundaram V, Bainbridge JW, Ali RR, Dubra A, Nardini M, Webster AR, Moore AT, Rubin G, Carroll J, Michaelides M. Aboshiha J, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2014 Aug 7;55(9):5733-43. doi: 10.1167/iovs.14-14937. Invest Ophthalmol Vis Sci. 2014. PMID: 25103266 Free PMC article.
Autofluorescence imaging in rubella retinopathy.
Goldberg N, Chou J, Moore A, Tsang S. Goldberg N, et al. Ocul Immunol Inflamm. 2009 Nov-Dec;17(6):400-2. doi: 10.3109/09273940903118634. Ocul Immunol Inflamm. 2009. PMID: 20001260 Free PMC article.
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M. Sundaram V, et al. Among authors: moore at. Ophthalmology. 2014 Jan;121(1):234-245. doi: 10.1016/j.ophtha.2013.08.017. Epub 2013 Oct 20. Ophthalmology. 2014. PMID: 24148654 Free PMC article.
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.
Dubis AM, Cooper RF, Aboshiha J, Langlo CS, Sundaram V, Liu B, Collison F, Fishman GA, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M. Dubis AM, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2014 Oct 2;55(11):7303-11. doi: 10.1167/iovs.14-14225. Invest Ophthalmol Vis Sci. 2014. PMID: 25277229 Free PMC article.
499 results