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Page 1
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Calcagni G, Limongelli G, D'Ambrosio A, Gesualdo F, Digilio MC, Baban A, Albanese SB, Versacci P, De Luca E, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Russo MG, Pacileo G, Milanesi O, Messina D, Marasini M, Cairello F, Formigari R, Brighenti M, Dallapiccola B, Tartaglia M, Marino B. Calcagni G, et al. Among authors: marino b. Int J Cardiol. 2017 Oct 15;245:92-98. doi: 10.1016/j.ijcard.2017.07.068. Epub 2017 Jul 21. Int J Cardiol. 2017. PMID: 28768581
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G. Lioncino M, et al. Among authors: marino b. Heart Fail Clin. 2022 Jan;18(1):19-29. doi: 10.1016/j.hfc.2021.07.004. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776080 Free PMC article. Review.
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Birth Defects Res A Clin Mol Teratol. 2004 Feb;70(2):95-8. doi: 10.1002/bdra.10148. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 14991917
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: marino b. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483
Atrioventricular canal defect in patients with RASopathies.
Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.
935 results