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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: mcclements m. 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.
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, Redmond E, Clarke L, Ellins E, Mohamed S, Pavord I, Klein N, Hunt DM, Moore AT, Halcox J, Sisodiya SM. Arrigoni FI, et al. Among authors: mcclements me. Eur J Hum Genet. 2011 Feb;19(2):131-7. doi: 10.1038/ejhg.2010.147. Epub 2010 Sep 22. Eur J Hum Genet. 2011. PMID: 20859302 Free PMC article.
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B. Cipriani V, et al. Among authors: mcclements me. Ophthalmic Genet. 2017 Dec;38(6):511-519. doi: 10.1080/13816810.2017.1289544. Epub 2017 Mar 2. Ophthalmic Genet. 2017. PMID: 28635424 Free article.
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: mcclements me. JAMA Netw Open. 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. JAMA Netw Open. 2019. PMID: 31199449 Free PMC article.
67 results