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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: tirozzi a. 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.
Association of nutritional glycaemic indices with global DNA methylation patterns: results from the Moli-sani cohort.
Noro F, Santonastaso F, Marotta A, Bonaccio M, Orlandi S, Tirozzi A, Costanzo S, De Curtis A, Gianfagna F, Di Castelnuovo A, Brighenti F, Cerletti C, Donati MB, de Gaetano G, Iacoviello L, Gialluisi A, Izzi B; Moli-sani Study Investigators. Noro F, et al. Among authors: tirozzi a. Clin Epigenetics. 2022 Dec 28;14(1):189. doi: 10.1186/s13148-022-01407-3. Clin Epigenetics. 2022. PMID: 36578055 Free PMC article.
Fine-grained investigation of the relationship between human nutrition and global DNA methylation patterns.
Noro F, Marotta A, Bonaccio M, Costanzo S, Santonastaso F, Orlandi S, Tirozzi A, Parisi R, De Curtis A, Persichillo M, Gianfagna F, Di Castelnuovo A, Donati MB, Cerletti C, de Gaetano G, Iacoviello L, Gialluisi A, Izzi B; Moli-sani Study Investigators. Noro F, et al. Among authors: tirozzi a. Eur J Nutr. 2022 Apr;61(3):1231-1243. doi: 10.1007/s00394-021-02716-8. Epub 2021 Nov 6. Eur J Nutr. 2022. PMID: 34741648
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