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Kinase Inhibitors in Genetic Diseases.
D'Antona L, Amato R, Brescia C, Rocca V, Colao E, Iuliano R, Blazer-Yost BL, Perrotti N. D'Antona L, et al. Among authors: perrotti n. Int J Mol Sci. 2023 Mar 9;24(6):5276. doi: 10.3390/ijms24065276. Int J Mol Sci. 2023. PMID: 36982349 Free PMC article. Review.
RANBP1, a member of the nuclear-cytoplasmic trafficking-regulator complex, is the terminal-striking point of the SGK1-dependent Th17+ pathological differentiation.
Brescia C, Dattilo V, D'Antona L, Chiarella E, Tallerico R, Audia S, Rocca V, Iuliano R, Trapasso F, Perrotti N, Amato R. Brescia C, et al. Among authors: perrotti n. Front Immunol. 2023 Jun 27;14:1213805. doi: 10.3389/fimmu.2023.1213805. eCollection 2023. Front Immunol. 2023. PMID: 37441077 Free PMC article.
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
Politi C, Grillone K, Nocera D, Colao E, Bellisario ML, Loddo S, Catino G, Novelli A, Perrotti N, Rodolfo I, Malatesta P. Politi C, et al. Among authors: perrotti n. Genes (Basel). 2024 Jan 16;15(1):103. doi: 10.3390/genes15010103. Genes (Basel). 2024. PMID: 38254992 Free PMC article.
Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).
De Angelis S, Medda E, Rotondi D, Masocco M, Minardi V, Contoli B, Possenti V, Sorbo A, D'Amato M, Turco AC, Pastorelli AA, Stacchini P, Cas RD, Bagnasco M, Bonofiglio D, Gasperi M, Meringolo D, Mian C, Moleti M, Vermiglio F, Puxeddu E, Taccaliti A, Tonacchera M, Ulisse S, Dimida A, Rago T, Nazzari E, Schiavo M, Bossert I, Sturniolo G, Corbetta C, Cereda C, Cappelletti L, Camilot M, Teofoli F, Ciatti R, Tarsi E, Perrotti N, Marasco O, Scozzafava G, Righetti F, Andò S, Catalano S, Cristofaro M, Sorrenti G, Censi S, Morelli S, Baldini E, Plutino G, Copparoni R, Alonzo E, Giacomozzi C, Silano M, Olivieri A. De Angelis S, et al. Among authors: perrotti n. J Clin Endocrinol Metab. 2024 Jan 18;109(2):e495-e507. doi: 10.1210/clinem/dgad593. J Clin Endocrinol Metab. 2024. PMID: 37820735 Free PMC article.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
106 results