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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J, Magdinier F, Fergelot P, Lacombe D. Van Gils J, et al. Among authors: magdinier f. Genes (Basel). 2021 Jun 24;12(7):968. doi: 10.3390/genes12070968. Genes (Basel). 2021. PMID: 34202860 Free PMC article. Review.
Does DNA Methylation Matter in FSHD?
Salsi V, Magdinier F, Tupler R. Salsi V, et al. Among authors: magdinier f. Genes (Basel). 2020 Feb 28;11(3):258. doi: 10.3390/genes11030258. Genes (Basel). 2020. PMID: 32121044 Free PMC article. Review.
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R. Dard L, et al. Among authors: magdinier f. J Clin Invest. 2022 Apr 15;132(8):e131053. doi: 10.1172/JCI131053. J Clin Invest. 2022. PMID: 35230976 Free PMC article.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R. Nikolic A, et al. Among authors: magdinier f. Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635. Int J Mol Sci. 2020. PMID: 32290091 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: magdinier f. 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
DNA methylation in satellite repeats disorders.
Francastel C, Magdinier F. Francastel C, et al. Among authors: magdinier f. Essays Biochem. 2019 Dec 20;63(6):757-771. doi: 10.1042/EBC20190028. Essays Biochem. 2019. PMID: 31387943 Review.
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, Sacconi S, Echaniz-Laguna A, Kuntzer T, Levy N, Magdinier F, Attarian S. Salort-Campana E, et al. Among authors: magdinier f. Int J Mol Sci. 2020 Mar 23;21(6):2221. doi: 10.3390/ijms21062221. Int J Mol Sci. 2020. PMID: 32210100 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: magdinier f. 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.
84 results