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Page 1
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. Gaillard MC, et al. Among authors: roche s. BMC Med Genet. 2016 Sep 15;17(1):66. doi: 10.1186/s12881-016-0328-9. BMC Med Genet. 2016. PMID: 27634379 Free PMC article.
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, Nguyen K, Magdinier F. Gaillard MC, et al. Among authors: roche s. Neurology. 2014 Aug 19;83(8):733-42. doi: 10.1212/WNL.0000000000000708. Epub 2014 Jul 16. Neurology. 2014. PMID: 25031281
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. Nguyen K, et al. Among authors: roche s. Hum Mutat. 2017 Oct;38(10):1432-1441. doi: 10.1002/humu.23304. Epub 2017 Aug 6. Hum Mutat. 2017. PMID: 28744936 Free article.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F. Dion C, et al. Among authors: roche s. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F. Nguyen K, et al. Among authors: roche s. J Med Genet. 2019 Sep;56(9):590-601. doi: 10.1136/jmedgenet-2018-105949. Epub 2019 Apr 22. J Med Genet. 2019. PMID: 31010831
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. Broucqsault N, et al. Among authors: roche s. Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777630
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.
Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F. Caruso N, et al. Among authors: roche s. PLoS Genet. 2013 Jun;9(6):e1003550. doi: 10.1371/journal.pgen.1003550. Epub 2013 Jun 13. PLoS Genet. 2013. PMID: 23785297 Free PMC article.
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J. Ferreboeuf M, et al. Among authors: roche s. Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20. Hum Mol Genet. 2014. PMID: 23966205 Free article.
miRNA expression in control and FSHD fetal human muscle biopsies.
Portilho DM, Alves MR, Kratassiouk G, Roche S, Magdinier F, de Santana EC, Polesskaya A, Harel-Bellan A, Mouly V, Savino W, Butler-Browne G, Dumonceaux J. Portilho DM, et al. Among authors: roche s. PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853. eCollection 2015. PLoS One. 2015. PMID: 25692472 Free PMC article.
849 results