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Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: maclaren re. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629. Invest Ophthalmol Vis Sci. 2012. PMID: 22427576
Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.
Lipinski DM, Yusuf M, Barnard AR, Damant C, Charbel Issa P, Singh MS, Lee E, Davies WL, Volpi EV, MacLaren RE. Lipinski DM, et al. Among authors: maclaren re. Invest Ophthalmol Vis Sci. 2011 Aug 22;52(9):6617-23. doi: 10.1167/iovs.11-7932. Invest Ophthalmol Vis Sci. 2011. PMID: 21705682 Free PMC article.
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT. Tan MH, et al. Among authors: maclaren re. PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6. PLoS One. 2012. PMID: 22412862 Free PMC article.
The p53 codon 72 polymorphism (rs1042522) is associated with proliferative vitreoretinopathy: the Retina 4 Project.
Pastor-Idoate S, Rodriguez-Hernández I, Rojas J, Fernández I, García-Gutierrez MT, Ruiz-Moreno JM, Rocha-Sousa A, Ramkissoon Y, Harsum S, MacLaren RE, Charteris D, van Meurs J, González-Sarmiento R, Pastor JC; Genetics on PVR Study Group*. Pastor-Idoate S, et al. Among authors: maclaren re. Ophthalmology. 2013 Mar;120(3):623-628. doi: 10.1016/j.ophtha.2012.08.019. Epub 2012 Dec 1. Ophthalmology. 2013. PMID: 23207172
358 results