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Page 1
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: broucqsault n. 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
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: broucqsault n. Neurology. 2014 Aug 19;83(8):733-42. doi: 10.1212/WNL.0000000000000708. Epub 2014 Jul 16. Neurology. 2014. PMID: 25031281
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, Magdinier F. Roche S, et al. Among authors: broucqsault n. Neurol Genet. 2019 Nov 14;5(6):e372. doi: 10.1212/NXG.0000000000000372. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872053 Free PMC article.
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. 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
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: broucqsault n. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Laberthonnière C, Novoa-Del-Toro EM, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K, Streichenberger N, Manel V, Bernard R, Salort Campana E, Attarian S, Nguyen K, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. Among authors: broucqsault n. J Cachexia Sarcopenia Muscle. 2022 Feb;13(1):621-635. doi: 10.1002/jcsm.12835. Epub 2021 Dec 3. J Cachexia Sarcopenia Muscle. 2022. PMID: 34859613 Free PMC article.
Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.
Mazaleyrat K, Badja C, Broucqsault N, Chevalier R, Laberthonnière C, Dion C, Baldasseroni L, El-Yazidi C, Thomas M, Bachelier R, Altié A, Nguyen K, Lévy N, Robin JD, Magdinier F. Mazaleyrat K, et al. Among authors: broucqsault n. Cells. 2020 Jun 23;9(6):1531. doi: 10.3390/cells9061531. Cells. 2020. PMID: 32585982 Free PMC article.
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome.
Laberthonnière C, Novoa-Del-Toro EM, Chevalier R, Broucqsault N, Rao VV, Trani JP, Nguyen K, Xue S, Reversade B, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. Among authors: broucqsault n. Biomedicines. 2021 Jun 29;9(7):751. doi: 10.3390/biomedicines9070751. Biomedicines. 2021. PMID: 34209568 Free PMC article.
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