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Journal Abstract Search

226 related items for PubMed ID: 31676591

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  • 4. A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
    Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.
    Hum Mol Genet; 2018 Dec 01; 27(23):4024-4035. PubMed ID: 30107443
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  • 7. 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 01; 44(12):1370-4. PubMed ID: 23143600
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  • 8. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
    Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM.
    Brain; 2024 Feb 01; 147(2):414-426. PubMed ID: 37703328
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  • 9. Genetic and epigenetic contributors to FSHD.
    Daxinger L, Tapscott SJ, van der Maarel SM.
    Curr Opin Genet Dev; 2015 Aug 01; 33():56-61. PubMed ID: 26356006
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  • 10. 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 01; 35(8):998-1010. PubMed ID: 24838473
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  • 11. 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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  • 12. 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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  • 13. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
    Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR.
    Eur J Hum Genet; 2015 Jun 15; 23(6):808-16. PubMed ID: 25370034
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  • 15. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
    Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.
    Skelet Muscle; 2017 Jun 06; 7(1):12. PubMed ID: 28587678
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  • 17. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
    Winston J, Duerden L, Mort M, Frayling IM, Rogers MT, Upadhyaya M.
    Eur J Hum Genet; 2015 Jan 06; 23(1):67-71. PubMed ID: 24755953
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  • 18. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
    Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM.
    Neurology; 2020 Jun 09; 94(23):e2441-e2447. PubMed ID: 32467133
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  • 19. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
    J Transl Med; 2022 Nov 08; 20(1):517. PubMed ID: 36348371
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  • 20. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
    Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, Magdinier F, Bartoli M.
    BMC Med Genet; 2016 Sep 15; 17(1):66. PubMed ID: 27634379
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