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Identical twins carry a persistent epigenetic signature of early genome programming.
van Dongen J, Gordon SD, McRae AF, Odintsova VV, Mbarek H, Breeze CE, Sugden K, Lundgren S, Castillo-Fernandez JE, Hannon E, Moffitt TE, Hagenbeek FA, van Beijsterveldt CEM, Jan Hottenga J, Tsai PC; BIOS Consortium; Genetics of DNA Methylation Consortium; Min JL, Hemani G, Ehli EA, Paul F, Stern CD, Heijmans BT, Slagboom PE, Daxinger L, van der Maarel SM, de Geus EJC, Willemsen G, Montgomery GW, Reversade B, Ollikainen M, Kaprio J, Spector TD, Bell JT, Mill J, Caspi A, Martin NG, Boomsma DI. van Dongen J, et al. Among authors: van der maarel sm, van beijsterveldt cem. Nat Commun. 2021 Sep 28;12(1):5618. doi: 10.1038/s41467-021-25583-7. Nat Commun. 2021. PMID: 34584077 Free PMC article.
Epigenetic mechanisms in health and disease.
van der Maarel SM. van der Maarel SM. Ann Rheum Dis. 2008 Dec;67 Suppl 3:iii97-100. doi: 10.1136/ard.2008.098392. Ann Rheum Dis. 2008. PMID: 19022824 Review.
Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes.
Thijssen PE, Tobi EW, Balog J, Schouten SG, Kremer D, El Bouazzaoui F, Henneman P, Putter H, Eline Slagboom P, Heijmans BT, van der Maarel SM. Thijssen PE, et al. Among authors: van der maarel sm. Epigenetics. 2013 May;8(5):512-21. doi: 10.4161/epi.24450. Epub 2013 Apr 17. Epigenetics. 2013. PMID: 23644601 Free PMC article.
Genetic and epigenetic contributors to FSHD.
Daxinger L, Tapscott SJ, van der Maarel SM. Daxinger L, et al. Among authors: van der maarel sm. Curr Opin Genet Dev. 2015 Aug;33:56-61. doi: 10.1016/j.gde.2015.08.007. Epub 2015 Sep 7. Curr Opin Genet Dev. 2015. PMID: 26356006 Free PMC article. Review.
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation.
Luijk R, Wu H, Ward-Caviness CK, Hannon E, Carnero-Montoro E, Min JL, Mandaviya P, Müller-Nurasyid M, Mei H, van der Maarel SM; BIOS Consortium; Relton C, Mill J, Waldenberger M, Bell JT, Jansen R, Zhernakova A, Franke L, 't Hoen PAC, Boomsma DI, van Duijn CM, van Greevenbroek MMJ, Veldink JH, Wijmenga C, van Meurs J, Daxinger L, Slagboom PE, van Zwet EW, Heijmans BT. Luijk R, et al. Among authors: van zwet ew, van duijn cm, van der maarel sm, van greevenbroek mmj, van meurs j. Nat Commun. 2018 Sep 14;9(1):3738. doi: 10.1038/s41467-018-05714-3. Nat Commun. 2018. PMID: 30218040 Free PMC article.
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Tapia Del Fierro A, den Hamer B, Benetti N, Jansz N, Chen K, Beck T, Vanyai H, Gurzau AD, Daxinger L, Xue S, Ly TTN, Wanigasuriya I, Iminitoff M, Breslin K, Oey H, Krom YD, van der Hoorn D, Bouwman LF, Johanson TM, Ritchie ME, Gouil QA, Reversade B, Prin F, Mohun T, van der Maarel SM, McGlinn E, Murphy JM, Keniry A, de Greef JC, Blewitt ME. Tapia Del Fierro A, et al. Among authors: van der maarel sm. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van engelen bg, van der vliet pj. Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143600 Free PMC article.
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: van der maarel sm, van tol mj, van ostaijen ten dam mm. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Nat Commun. 2015. PMID: 26216346 Free PMC article.
258 results