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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Amico G, Hemphill WO, Severino M, Moratti C, Pascarella R, Bertamino M, Napoli F, Volpi S, Rosamilia F, Signa S, Perrino F, Zedde M, Ceccherini I, On Behalf Of The Gaslini Stroke Study Group. Amico G, et al. Among authors: severino m. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
Lasigliè D, Mensa-Vilaro A, Ferrera D, Caorsi R, Penco F, Santamaria G, Di Duca M, Amico G, Nakagawa K, Antonini F, Tommasini A, Consolini R, Insalaco A, Cattalini M, Obici L, Gallizzi R, Santarelli F, Del Zotto G, Severino M, Rubartelli A, Ravazzolo R, Martini A, Ceccherini I, Nishikomori R, Gattorno M, Arostegui JI, Borghini S. Lasigliè D, et al. Among authors: severino m. J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15. J Rheumatol. 2017. PMID: 28916543
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. Bertamino M, et al. Among authors: severino m. Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709427
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.
Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S, Napoli F, Confalonieri L, Schiavone M, Thiabat HF, Casalini E, Morana G, Rossi A, Ramenghi LA, Maghnie M, Di Iorgi N. Patti G, et al. Among authors: severino m. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz151. doi: 10.1210/clinem/dgz151. J Clin Endocrinol Metab. 2020. PMID: 31665337
382 results