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Journal Abstract Search

197 related items for PubMed ID: 22121874

  • 21. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
    Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM.
    Neuromuscul Disord; 2005 Jul; 15(7):471-5. PubMed ID: 15935668
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  • 22. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
    van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
    Nat Genet; 2003 Dec; 35(4):315-7. PubMed ID: 14634647
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  • 23. 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; 75(6):1124-30. PubMed ID: 15467981
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  • 24. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
    Himeda CL, Jones PL.
    Annu Rev Genomics Hum Genet; 2019 Aug 31; 20():265-291. PubMed ID: 31018108
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  • 25. Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus.
    Morioka MS, Kitazume M, Osaki K, Wood J, Tanaka Y.
    PLoS One; 2016 Aug 31; 11(3):e0151963. PubMed ID: 27002334
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  • 26. Facioscapulohumeral muscular dystrophy.
    Tawil R, Van Der Maarel SM.
    Muscle Nerve; 2006 Jul 31; 34(1):1-15. PubMed ID: 16508966
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  • 27. Molecular basis of facioscapulohumeral muscular dystrophy.
    Tupler R, Gabellini D.
    Cell Mol Life Sci; 2004 Mar 31; 61(5):557-566. PubMed ID: 15004695
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  • 32. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.
    Hum Mutat; 2009 Oct 31; 30(10):1449-59. PubMed ID: 19728363
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  • 33. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
    de Greef JC, Frants RR, van der Maarel SM.
    Mutat Res; 2008 Dec 01; 647(1-2):94-102. PubMed ID: 18723032
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  • 34. 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
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  • 35. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle.
    Gabellini D, Green MR, Tupler R.
    Cell; 2002 Aug 09; 110(3):339-48. PubMed ID: 12176321
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  • 40. 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.
    Ann Neurol; 2005 Oct 09; 58(4):569-76. PubMed ID: 16178028
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