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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

634 related items for PubMed ID: 27816329

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  • 3. 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
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  • 4. Facioscapulohumeral Muscular Dystrophy.
    DeSimone AM, Pakula A, Lek A, Emerson CP.
    Compr Physiol; 2017 Sep 12; 7(4):1229-1279. PubMed ID: 28915324
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  • 5. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
    Hum Mol Genet; 2018 Oct 15; 27(20):3488-3497. PubMed ID: 30281091
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  • 7. Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
    Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.
    Hum Mutat; 2014 Aug 15; 35(8):998-1010. PubMed ID: 24838473
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  • 8. Facioscapulohumeral muscular dystrophy.
    Sacconi S, Salviati L, Desnuelle C.
    Biochim Biophys Acta; 2015 Apr 15; 1852(4):607-14. PubMed ID: 24882751
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  • 10. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
    de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.
    Hum Mol Genet; 2018 Feb 15; 27(4):716-731. PubMed ID: 29281018
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  • 13. 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.
    Nat Genet; 2012 Dec 15; 44(12):1370-4. PubMed ID: 23143600
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  • 14. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.
    Statland JM, Tawil R.
    Curr Opin Neurol; 2011 Oct 15; 24(5):423-8. PubMed ID: 21734574
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  • 15. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
    Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.
    Eur J Hum Genet; 2018 Jan 15; 26(1):94-106. PubMed ID: 29162933
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  • 17. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
    Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.
    Am J Hum Genet; 2013 Oct 03; 93(4):744-51. PubMed ID: 24075187
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  • 18. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
    Greco A, Goossens R, van Engelen B, van der Maarel SM.
    Clin Genet; 2020 Jun 03; 97(6):799-814. PubMed ID: 32086799
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