214 related articles for article (PubMed ID: 31316120)
1. Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.
Gaillard MC; Broucqsault N; Morere J; Laberthonnière C; Dion C; Badja C; Roche S; Nguyen K; Magdinier F; Robin JD
Sci Rep; 2019 Jul; 9(1):10327. PubMed ID: 31316120
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Broucqsault N; Morere J; Gaillard MC; Dumonceaux J; Torrents J; Salort-Campana E; Maues De Paula A; Bartoli M; Fernandez C; Chesnais AL; Ferreboeuf M; Sarda L; Dufour H; Desnuelle C; Attarian S; Levy N; Nguyen K; Magdinier F; Roche S
Hum Mol Genet; 2013 Oct; 22(20):4206-14. PubMed ID: 23777630
[TBL] [Abstract][Full Text] [Related]
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; 27(23):4024-4035. PubMed ID: 30107443
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.
Ottaviani A; Rival-Gervier S; Boussouar A; Foerster AM; Rondier D; Sacconi S; Desnuelle C; Gilson E; Magdinier F
PLoS Genet; 2009 Feb; 5(2):e1000394. PubMed ID: 19247430
[TBL] [Abstract][Full Text] [Related]
12. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Nguyen K; Puppo F; Roche S; Gaillard MC; Chaix C; Lagarde A; Pierret M; Vovan C; Olschwang S; Salort-Campana E; Attarian S; Bartoli M; Bernard R; Magdinier F; Levy N
Hum Mutat; 2017 Oct; 38(10):1432-1441. PubMed ID: 28744936
[TBL] [Abstract][Full Text] [Related]
13. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.
Jiang G; Yang F; van Overveld PG; Vedanarayanan V; van der Maarel S; Ehrlich M
Hum Mol Genet; 2003 Nov; 12(22):2909-21. PubMed ID: 14506132
[TBL] [Abstract][Full Text] [Related]
14. Facioscapulohumeral Muscular Dystrophy.
DeSimone AM; Pakula A; Lek A; Emerson CP
Compr Physiol; 2017 Sep; 7(4):1229-1279. PubMed ID: 28915324
[TBL] [Abstract][Full Text] [Related]
15. Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
Lee JH; Park HJ; Seong MW; Park SS; Choi YC
Yonsei Med J; 2021 Jan; 62(1):95-98. PubMed ID: 33381940
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy.
Pirozhkova I; Petrov A; Dmitriev P; Laoudj D; Lipinski M; Vassetzky Y
PLoS One; 2008; 3(10):e3389. PubMed ID: 18852887
[TBL] [Abstract][Full Text] [Related]
18. 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]
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; 44(12):1370-4. PubMed ID: 23143600
[TBL] [Abstract][Full Text] [Related]
20. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
Masny PS; Bengtsson U; Chung SA; Martin JH; van Engelen B; van der Maarel SM; Winokur ST
Hum Mol Genet; 2004 Sep; 13(17):1857-71. PubMed ID: 15238509
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]