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Page 1
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. van Overveld PG, et al. Among authors: van der maarel sm. Ann Neurol. 2005 Oct;58(4):569-76. doi: 10.1002/ana.20625. Ann Neurol. 2005. PMID: 16178028
Facioscapulohumeral muscular dystrophy.
van der Maarel SM, Frants RR, Padberg GW. van der Maarel SM, et al. Biochim Biophys Acta. 2007 Feb;1772(2):186-94. doi: 10.1016/j.bbadis.2006.05.009. Epub 2006 Jun 6. Biochim Biophys Acta. 2007. PMID: 16837171 Free article. Review.
No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW. van der Kooi EL, et al. Among authors: van der maarel sm, van asseldonk rj, van engelen bg. Neuromuscul Disord. 2006 Nov;16(11):766-9. doi: 10.1016/j.nmd.2006.08.005. Epub 2006 Sep 26. Neuromuscul Disord. 2006. PMID: 17005397 Free article.
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM. de Greef JC, et al. Among authors: van der maarel sm. Neurology. 2007 Sep 4;69(10):1018-26. doi: 10.1212/01.wnl.0000271391.44352.fe. Neurology. 2007. PMID: 17785671
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM. Hagleitner MM, et al. Among authors: van dijken pj, van der maarel sm, van deuren m. J Med Genet. 2008 Feb;45(2):93-9. doi: 10.1136/jmg.2007.053397. Epub 2007 Sep 24. J Med Genet. 2008. PMID: 17893117
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
de Greef JC, Frants RR, van der Maarel SM. de Greef JC, et al. Among authors: van der maarel sm. Mutat Res. 2008 Dec 1;647(1-2):94-102. doi: 10.1016/j.mrfmmm.2008.07.011. Epub 2008 Aug 3. Mutat Res. 2008. PMID: 18723032 Free PMC article. Review.
264 results