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Journal Abstract Search
172 related items for PubMed ID: 38691604
21. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele. Haynes P, Bomsztyk K, Miller DG. Epigenetics Chromatin; 2018 Aug 20; 11(1):47. PubMed ID: 30122154 [Abstract] [Full Text] [Related]
22. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG. PLoS Genet; 2010 Oct 28; 6(10):e1001181. PubMed ID: 21060811 [Abstract] [Full Text] [Related]
24. Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. Mitsuhashi S, Nakagawa S, Takahashi Ueda M, Imanishi T, Frith MC, Mitsuhashi H. Sci Rep; 2017 Nov 01; 7(1):14789. PubMed ID: 29093467 [Abstract] [Full Text] [Related]
25. [Facioscapulohumeral muscular dystrophy type 2]. Sacconi S, Desnuelle C. Rev Neurol (Paris); 2013 Nov 01; 169(8-9):564-72. PubMed ID: 23969240 [Abstract] [Full Text] [Related]
26. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population. Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY. Eur J Hum Genet; 2011 Jan 01; 19(1):64-9. PubMed ID: 20736973 [Abstract] [Full Text] [Related]
27. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. Hum Mol Genet; 2000 Nov 22; 9(19):2879-84. PubMed ID: 11092764 [Abstract] [Full Text] [Related]
28. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. Genomics; 2002 Feb 22; 79(2):210-7. PubMed ID: 11829491 [Abstract] [Full Text] [Related]
29. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Statland JM, Tawil R. Curr Opin Neurol; 2011 Oct 22; 24(5):423-8. PubMed ID: 21734574 [Abstract] [Full Text] [Related]
31. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Brain; 2013 Nov 22; 136(Pt 11):3408-17. PubMed ID: 24030947 [Abstract] [Full Text] [Related]
38. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy. Greco A, Goossens R, van Engelen B, van der Maarel SM. Clin Genet; 2020 Jun 22; 97(6):799-814. PubMed ID: 32086799 [Abstract] [Full Text] [Related]
39. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Am J Hum Genet; 2004 Dec 22; 75(6):1124-30. PubMed ID: 15467981 [Abstract] [Full Text] [Related]