Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever

by Federici, S, Caroli, F, Sormani, MP, Meini, A, Caorsi, R, Martini, G, Simonini, G, Consolini, R, Plebani, S, Baldi, M, Ceccherini, I, Martini, A, Gattorno, M
Published 2008

PReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study

by Naselli, A, Cantarini, L, Insalaco, A, Alessio, M, Tommasini, A, Gallizzi, R, Signa, S, Lucherini, OM, Caroli, F, Ceccherini, I, Martini, A, Gattorno, M
Published 2013

P02-024 - Clinical impact of V198M mutation in NLRP3 gene

by Caorsi, R, Insalaco, A, Obici, L, Cantarini, L, Meini, A, Alessio, M, Lepore, L, Zulian, F, Caroli, F, Ceccherini, I, Martini, A, Gattorno, M
Published 2013

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke

by Caorsi, R, Grossi, A, Insalaco, A, Alessio, M, Martino, S, Cortis, E, Morreale, A, Caroli, F, Martini, A, Ceccherini, I, Gattorno, M
Published 2015

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation

by Borghini, S, Tassi, S, Chiesa, S, Caroli, F, Carta, S, Caorsi, R, Fiore, M, Delfino, L, Lasigliè, D, Ferraris, C, Traggiai, E, Di Duca, M, Santamaria, G, D'Osualdo, A, Tosca, M, Martini, A, Ceccherini, I, Rubartelli, A, Gattorno, M
Published 2011

Impact of MEFV genotype in Caucasian children with periodic fever

by Federici, Silvia, Calcagno, G, Finetti, Martina, Gallizzi, Romina, Meini, Antonella, Vitale, A, Caroli, F, Cattalini, M, Caorsi, Roberta, Zulian, Francesco, Tomasini, Alberto, Insalaco, A, Frenkel, J, Sormani, Mariapia, Baldi, M, Ceccherini, Isabella, Martini, Alberto, Gattorno, Marco
Published 2011

Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene

by Pelagatti, M A, Meini, A, Caorsi, R, Cattalini, M, Federici, S, Zulian, F, Calcagno, G, Tommasini, A, Bossi, G, Sormani, M P, Caroli, F, Plebani, A, Ceccherini, I, Martini, A, Gattorno, M
Published 2011

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex...

by Rusmini, M, Federici, S, Caroli, F, Grossi, A, Baldi, M, Obici, L, Insalaco, A, Tommasini, A, Caorsi, R, Gallo, E, Olivieri, AN, Marzano, AV, Coviello, D, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I
Published 2015