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Year Number of Results
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1994 2
1995 3
1996 2
1997 6
1998 7
1999 8
2000 7
2001 8
2002 5
2003 4
2004 5
2005 3
2006 4
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2014 3
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PubMed (OMIM) for id: 24

86 results

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Page 1
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB. Runhart EH, et al. Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256. doi: 10.1167/iovs.19-27524. Invest Ophthalmol Vis Sci. 2019. PMID: 31618761
Modification of the PROM1 disease phenotype by a mutation in ABCA4.
Lee W, Paavo M, Zernant J, Stong N, Laurente Z, Bearelly S, Nagasaki T, Tsang SH, Goldstein DB, Allikmets R. Lee W, et al. Ophthalmic Genet. 2019 Aug;40(4):369-375. doi: 10.1080/13816810.2019.1660382. Epub 2019 Sep 6. Ophthalmic Genet. 2019. PMID: 31576780 Free PMC article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT. Fujinami K, et al. Ophthalmology. 2015 Feb;122(2):326-34. doi: 10.1016/j.ophtha.2014.08.012. Epub 2014 Oct 12. Ophthalmology. 2015. PMID: 25312043 Free PMC article.
86 results