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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: iascone m. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
[Clinical pathway on pediatric cardiomyopathies: a genetic testing strategy proposed by the Italian Society of Pediatric Cardiology].
Girolami F, Iascone M, Pezzoli L, Passantino S, Limongelli G, Monda E, Rubino M, Adorisio R, Lombardi M, Ragni L, Olivotto I, Favilli S; a nome della Società Italiana di Cardiologia Pediatrica (SICP). Girolami F, et al. Among authors: iascone m. G Ital Cardiol (Rome). 2022 Jul;23(7):505-515. doi: 10.1714/3831.38168. G Ital Cardiol (Rome). 2022. PMID: 35771016 Italian.
Mutual epithelium-macrophage dependency in liver carcinogenesis mediated by ST18.
Ravà M, D'Andrea A, Doni M, Kress TR, Ostuni R, Bianchi V, Morelli MJ, Collino A, Ghisletti S, Nicoli P, Recordati C, Iascone M, Sonzogni A, D'Antiga L, Shukla R, Faulkner GJ, Natoli G, Campaner S, Amati B. Ravà M, et al. Among authors: iascone m. Hepatology. 2017 May;65(5):1708-1719. doi: 10.1002/hep.28942. Epub 2016 Dec 30. Hepatology. 2017. PMID: 27859418 Free PMC article.
189 results