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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

295 related items for PubMed ID: 26831754

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  • 2. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
    Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL.
    Clin Epigenetics; 2014; 6(1):23. PubMed ID: 25400706
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  • 5. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
    Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP, Miller JB, Wagner KR, Jones PL.
    Clin Epigenetics; 2015; 7(1):37. PubMed ID: 25904990
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  • 8. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
    van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.
    Eur J Hum Genet; 2016 Jan; 24(1):78-85. PubMed ID: 25782668
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  • 12. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
    Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.
    Epigenetics; 2015 Jan; 10(12):1133-42. PubMed ID: 26575099
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  • 13. 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; 26(1):94-106. PubMed ID: 29162933
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  • 15. 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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  • 19. 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 03; 44(12):1370-4. PubMed ID: 23143600
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