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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

328 related items for PubMed ID: 26356006

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  • 2. Facioscapulohumeral muscular dystrophy.
    Sacconi S, Salviati L, Desnuelle C.
    Biochim Biophys Acta; 2015 Apr; 1852(4):607-14. PubMed ID: 24882751
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  • 3. 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; 44(12):1370-4. PubMed ID: 23143600
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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. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.
    Hum Mol Genet; 2015 Feb 01; 24(3):659-69. PubMed ID: 25256356
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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 01; 24(1):78-85. PubMed ID: 25782668
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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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  • 14. 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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