245 related articles for article (PubMed ID: 25782668)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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; 23(1):67-71. PubMed ID: 24755953
[TBL] [Abstract][Full Text] [Related]
13. Facioscapulohumeral muscular dystrophy.
Sacconi S; Salviati L; Desnuelle C
Biochim Biophys Acta; 2015 Apr; 1852(4):607-14. PubMed ID: 24882751
[TBL] [Abstract][Full Text] [Related]
14. Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
Hamanaka K; Goto K; Arai M; Nagao K; Obuse C; Noguchi S; Hayashi YK; Mitsuhashi S; Nishino I
Neuromuscul Disord; 2016; 26(4-5):300-8. PubMed ID: 27061275
[TBL] [Abstract][Full Text] [Related]
15. 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; 17(1):66. PubMed ID: 27634379
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. Homozygous nonsense variant in
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; 94(23):e2441-e2447. PubMed ID: 32467133
[TBL] [Abstract][Full Text] [Related]
19. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
Mayes MB; Morgan T; Winston J; Buxton DS; Kamat MA; Smith D; Williams M; Martin RL; Kleinjan DA; Cooper DN; Upadhyaya M; Chuzhanova N
Hum Genomics; 2015 Oct; 9():25. PubMed ID: 26446085
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]