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Page 1
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.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: van der maarel sm, van tol mj, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 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.
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
van den Boogaard ML, Thijssen PE, Aytekin C, Licciardi F, Kıykım AA, Spossito L, Dalm VASH, Driessen GJ, Kersseboom R, de Vries F, van Ostaijen-Ten Dam MM, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol MJD, Weemaes C, van der Maarel SM. van den Boogaard ML, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm. Clin Genet. 2017 Oct;92(4):380-387. doi: 10.1111/cge.12979. Epub 2017 Mar 7. Clin Genet. 2017. PMID: 28128455
260 results