These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
799 related articles for article (PubMed ID: 23143600)
1. 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 [TBL] [Abstract][Full Text] [Related]
2. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. Balog J; Goossens R; Lemmers RJLF; Straasheijm KR; van der Vliet PJ; Heuvel AVD; Cambieri C; Capet N; Feasson L; Manel V; Contet J; Kriek M; Donlin-Smith CM; Ruivenkamp CAL; Heard P; Tapscott SJ; Cody JD; Tawil R; Sacconi S; van der Maarel SM J Med Genet; 2018 Jul; 55(7):469-478. PubMed ID: 29563141 [TBL] [Abstract][Full Text] [Related]
3. Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. Lemmers RJ; van den Boogaard ML; van der Vliet PJ; Donlin-Smith CM; Nations SP; Ruivenkamp CA; Heard P; Bakker B; Tapscott S; Cody JD; Tawil R; van der Maarel SM Hum Mutat; 2015 Jul; 36(7):679-83. PubMed ID: 25820463 [TBL] [Abstract][Full Text] [Related]
4. 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; 93(4):744-51. PubMed ID: 24075187 [TBL] [Abstract][Full Text] [Related]
5. Genetic and epigenetic contributors to FSHD. Daxinger L; Tapscott SJ; van der Maarel SM Curr Opin Genet Dev; 2015 Aug; 33():56-61. PubMed ID: 26356006 [TBL] [Abstract][Full Text] [Related]
6. 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 [TBL] [Abstract][Full Text] [Related]
7. 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; 10(12):1133-42. PubMed ID: 26575099 [TBL] [Abstract][Full Text] [Related]
8. 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; 24(3):659-69. PubMed ID: 25256356 [TBL] [Abstract][Full Text] [Related]
9. 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; 27(4):716-731. PubMed ID: 29281018 [TBL] [Abstract][Full Text] [Related]
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; 35(8):998-1010. PubMed ID: 24838473 [TBL] [Abstract][Full Text] [Related]
11. Intronic Goossens R; van den Boogaard ML; Lemmers RJLF; Balog J; van der Vliet PJ; Willemsen IM; Schouten J; Maggio I; van der Stoep N; Hoeben RC; Tapscott SJ; Geijsen N; Gonçalves MAFV; Sacconi S; Tawil R; van der Maarel SM J Med Genet; 2019 Dec; 56(12):828-837. PubMed ID: 31676591 [TBL] [Abstract][Full Text] [Related]
12. 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; 11(1):47. PubMed ID: 30122154 [TBL] [Abstract][Full Text] [Related]
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; 23(6):808-16. PubMed ID: 25370034 [TBL] [Abstract][Full Text] [Related]
14. 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; 147(2):414-426. PubMed ID: 37703328 [TBL] [Abstract][Full Text] [Related]
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; 7(1):12. PubMed ID: 28587678 [TBL] [Abstract][Full Text] [Related]
19. A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy. Gatica LV; Rosa AL Neuromuscul Disord; 2016 Dec; 26(12):844-852. PubMed ID: 27816329 [TBL] [Abstract][Full Text] [Related]
20. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. Renard D; Taieb G; Garibaldi M; Maues De Paula A; Bernard R; Lagha N; Cristofari G; Vovan C; Chaix C; Lévy N; Khau Van Kien P; Sacconi S Am J Med Genet A; 2018 Aug; 176(8):1760-1763. PubMed ID: 30055030 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]