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The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL. Michaelides M, et al. Among authors: holder ge. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14. Invest Ophthalmol Vis Sci. 2010. PMID: 20393116 Free PMC article.
Acquired dyschromatopsia in acute myelocytic leukaemia.
Ziaei M, Holder GE, Elgohary MA, Bremner FD. Ziaei M, et al. Among authors: holder ge. Doc Ophthalmol. 2013 Dec;127(3):249-53. doi: 10.1007/s10633-013-9407-9. Epub 2013 Sep 20. Doc Ophthalmol. 2013. PMID: 24052224
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Sergouniotis PI, et al. Among authors: holder ge. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. Invest Ophthalmol Vis Sci. 2015. PMID: 26720460 Free article.
Macular maldevelopment in ATF6-mediated retinal dysfunction.
Ritter M, Arno G, Ba-Abbad R, Holder GE, Webster AR. Ritter M, et al. Among authors: holder ge. Ophthalmic Genet. 2019 Dec;40(6):564-569. doi: 10.1080/13816810.2019.1706749. Epub 2020 Jan 3. Ophthalmic Genet. 2019. PMID: 31900015
274 results