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Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.
Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM. Krom YD, et al. Among authors: den hamer b. Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007. Epub 2012 Aug 4. Am J Pathol. 2012. PMID: 22871573 Free PMC article.
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC. van der Wal E, et al. Among authors: den hamer b. Stem Cell Res. 2019 Oct;40:101560. doi: 10.1016/j.scr.2019.101560. Epub 2019 Aug 28. Stem Cell Res. 2019. PMID: 31518905 Free article.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, Tapscott SJ, van der Maarel SM. Krom YD, et al. Among authors: den hamer b. PLoS Genet. 2013 Apr;9(4):e1003415. doi: 10.1371/journal.pgen.1003415. Epub 2013 Apr 4. PLoS Genet. 2013. PMID: 23593020 Free PMC article.
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM. de Greef JC, et al. Among authors: den hamer b. Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437. Hum Mol Genet. 2018. PMID: 29281018 Free PMC article.
14 results