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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: van regemorter n, van maldergem l. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T. Murray LS, et al. Among authors: van regemorter n. Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2. Hum Mol Genet. 2014. PMID: 24001601 Free PMC article.
85 results