Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR.

od Covone, A E, Caroli, F, Romeo, G
Wydane 1992

Expanding cerebral cysts (lacunae): a treatable cause of progressive midbrain syndrome

od Longatti, P, Fiorindi, A, Carteri, A, Caroli, F, Martinuzzi, A
Wydane 2003

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

od Caorsi, R, Grossi, A, Insalaco, A, Alessio, M, Martino, S, Cortis, E, Morreale, A, Caroli, F, Martini, A, Ceccherini, I, Gattorno, M
Wydane w Pediatr Rheumatol Online J (2015)

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

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

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

od 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
Wydane 2008

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

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

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

od 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
Wydane 2011

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

od Seri, M, Cusano, R, Forabosco, P, Cinti, R, Caroli, F, Picco, P, Bini, R, Morra, V B, De Michele, G, Lerone, M, Silengo, M, Pela, I, Borrone, C, Romeo, G, Devoto, M
Wydane 1999

Preservation of clonal heterogeneity of the Pneumocystis carinii-specific CD4 T cell repertoire in HIV infected, asymptomatic individuals

od LI PIRA, G, FENOGLIO, D, BOTTONE, L, TERRANOVA, P, PONTALI, E, CAROLI, F, SERI, M, CAILLIEZ, J-C, KOOPMAN, G, ACCOLLA, R, DEL GALDO, F, ABBATE, G, DE PALMA, R, MANCA, F
Wydane 2002

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

od 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
Wydane w Pediatr Rheumatol Online J (2015)

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

od 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
Wydane 2011

Impact of MEFV genotype in Caucasian children with periodic fever

od 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
Wydane 2011