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Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Lecoquierre F, Brehin AC, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, De Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, van Ravenswaaij-Arts C, Frebourg T, Saugier-Veber P, Gruchy N, Nicolas G, Gerard M. Lecoquierre F, et al. Among authors: mangione r. Hum Mutat. 2020 May;41(5):926-933. doi: 10.1002/humu.23998. Epub 2020 Mar 1. Hum Mutat. 2020. PMID: 32058622
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C. Lefebvre M, et al. Among authors: mangione r. Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30. Prenat Diagn. 2015. PMID: 25754886
Targeted Metabolomics Highlights Dramatic Antioxidant Depletion, Increased Oxidative/Nitrosative Stress and Altered Purine and Pyrimidine Concentrations in Serum of Primary Myelofibrosis Patients.
Mangione R, Giallongo C, Duminuco A, La Spina E, Longhitano L, Giallongo S, Tibullo D, Lazzarino G, Saab MW, Sbriglione A, Palumbo GA, Graziani A, Alanazi AM, Di Pietro V, Tavazzi B, Amorini AM, Lazzarino G. Mangione R, et al. Antioxidants (Basel). 2024 Apr 19;13(4):490. doi: 10.3390/antiox13040490. Antioxidants (Basel). 2024. PMID: 38671937 Free PMC article.
Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation.
Rombaut D, Lefèvre C, Rached T, Bondu S, Letessier A, Mangione RM, Farhat B, Lesieur-Pasquier A, Castillo-Guzman D, Boussaid I, Friedrich C, Tourville A, De Carvalho M, Levavasseur F, Leduc M, Le Gall M, Battault S, Temple M, Houy A, Bouscary D, Willems L, Park S, Raynaud S, Cluzeau T, Clappier E, Fenaux P, Adès L, Margueron R, Wassef M, Alsafadi S, Chapuis N, Kosmider O, Solary E, Constantinou A, Stern MH, Droin N, Palancade B, Miotto B, Chédin F, Fontenay M. Rombaut D, et al. Among authors: mangione rm. Nat Commun. 2024 Apr 8;15(1):3016. doi: 10.1038/s41467-024-46547-7. Nat Commun. 2024. PMID: 38589367 Free PMC article.
Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction.
Wohlwend M, Laurila PP, Goeminne LJE, Lima T, Daskalaki I, Li X, von Alvensleben G, Crisol B, Mangione R, Gallart-Ayala H, Burri O, Butler S, Morris J, Turner N, Ivanisevic J, Auwerx J. Wohlwend M, et al. Among authors: mangione r. Elife. 2024 Mar 20;12:RP90522. doi: 10.7554/eLife.90522. Elife. 2024. PMID: 38506902 Free PMC article.
Applicability of J-CTO channel score to predict microcatheter tracking during retrograde percutaneous coronary intervention of chronic total occlusions: Insights from the SURFING MICRO registry.
Piedimonte G, Azzalini L, Ferrarotto L, Mangione R, Cerrato E, Franzè A, Tomassini F, Rolfo C, Pavani M, Zanda G, Tamburino C, Varbella F, La Manna A. Piedimonte G, et al. Among authors: mangione r. Catheter Cardiovasc Interv. 2024 Jan;103(1):1-11. doi: 10.1002/ccd.30928. Epub 2023 Dec 4. Catheter Cardiovasc Interv. 2024. PMID: 38050646
88 results