Center-Authored Papers

Filters: Author is van Engelen, Baziel G M  [Clear All Filters]
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Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BGM, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM.  2012.  Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.. Epigenetics : official journal of the DNA Methylation Society. 7(6):579-584. Abstract
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M et al..  2016.  Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.. American journal of human genetics. 98(5):1020-9. Abstract
van den Boogaard ML, Jfl Lemmers R, Camaño P, van der Vliet PJ, Voermans N, van Engelen BGM, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R et al..  2015.  Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.. European journal of human genetics : EJHG. Abstract
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Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ et al..  2012.  Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD.. The American journal of pathology. Abstract
Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS et al..  2013.  Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.. PLoS genetics. 9(4):e1003415. Abstract
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Lemmers RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR et al..  2012.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.. Nature genetics. 44(12):1370-4. Abstract