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268 results

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Page 1
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.
Paolucci M, Vincenzi C, Romoli M, Amico G, Ceccherini I, Lattanzi S, Bersano A, Longoni M, Sacco S, Vernieri F, Pascarella R, Valzania F, Zedde M. Paolucci M, et al. Among authors: ceccherini i. Genes (Basel). 2021 Dec 6;12(12):1953. doi: 10.3390/genes12121953. Genes (Basel). 2021. PMID: 34946902 Free PMC article.
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: ceccherini i. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
Bertamino M, Signa S, Veneruso M, Prato G, Caorsi R, Losurdo G, Teutonico F, Esposito S, Formica F, Tovaglieri N, Nagel MA, Amico G, Zanetti A, Tortora D, Rossi A, Moretti P, Gattorno M, Ravelli A, Severino M; in behalf of Gaslini Stroke Study Group. Bertamino M, et al. J Neurol. 2021 Dec;268(12):4846-4865. doi: 10.1007/s00415-021-10606-6. Epub 2021 May 27. J Neurol. 2021. PMID: 34046727
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A, Miano M, Lanciotti M, Fioredda F, Guardo D, Palmisani E, Terranova P, Santamaria G, Caroli F, Caorsi R, Volpi S, Gattorno M, Dufour C, Ceccherini I. Grossi A, et al. Among authors: ceccherini i. Genes (Basel). 2021 Aug 24;12(9):1299. doi: 10.3390/genes12091299. Genes (Basel). 2021. PMID: 34573280 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: ceccherini i. J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15. J Rheumatol. 2017. PMID: 28916543 Free article.
Recent advances in the developmental origin of neuroblastoma: an overview.
Ponzoni M, Bachetti T, Corrias MV, Brignole C, Pastorino F, Calarco E, Bensa V, Giusto E, Ceccherini I, Perri P. Ponzoni M, et al. Among authors: ceccherini i. J Exp Clin Cancer Res. 2022 Mar 11;41(1):92. doi: 10.1186/s13046-022-02281-w. J Exp Clin Cancer Res. 2022. PMID: 35277192 Free PMC article. Review.
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M, Grossi A, Dell'Orso G, Lanciotti M, Fioredda F, Palmisani E, Lanza T, Guardo D, Beccaria A, Ravera S, Cossu V, Terranova P, Giona F, Santopietro M, Cappelli E, Ceccherini I, Dufour C. Miano M, et al. Among authors: ceccherini i. Am J Hematol. 2021 Sep 1;96(9):1077-1086. doi: 10.1002/ajh.26242. Epub 2021 Jun 2. Am J Hematol. 2021. PMID: 34000087 Free article.
268 results