| The pattern of response to anti–interleukin‐1 treatment distinguishes two subsets of patients with systemic‐onset juvenile idiopathic arthritis M Gattorno, A Piccini, D Lasigliè, S Tassi, G Brisca, S Carta, L Delfino, ... Arthritis & Rheumatism 58 (5), 1505-1515, 2008 | 442 | 2008 |
| A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children M Gattorno, MP Sormani, A d'Osualdo, MA Pelagatti, F Caroli, S Federici, ... Arthritis & Rheumatism: Official Journal of the American College of …, 2008 | 235 | 2008 |
| Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation S Borghini, S Tassi, S Chiesa, F Caroli, S Carta, R Caorsi, M Fiore, ... Arthritis & Rheumatism 63 (3), 830-839, 2011 | 198 | 2011 |
| Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases AV Marzano, I Ceccherini, M Gattorno, D Fanoni, F Caroli, M Rusmini, ... Medicine 93 (27), e187, 2014 | 141 | 2014 |
| 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 M Seri, R Cusano, P Forabosco, R Cinti, F Caroli, P Picco, R Bini, ... The American Journal of Human Genetics 64 (2), 586-593, 1999 | 124 | 1999 |
| Long‐term clinical profile of children with the low‐penetrance R92Q mutation of the TNFRSF1A gene MA Pelagatti, A Meini, R Caorsi, M Cattalini, S Federici, F Zulian, ... Arthritis & Rheumatism 63 (4), 1141-1150, 2011 | 118 | 2011 |
| MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever A D'Osualdo, P Picco, F Caroli, M Gattorno, R Giacchino, P Fortini, ... European journal of human genetics 13 (3), 314-320, 2005 | 95 | 2005 |
| Clinical and genetic characterization of Italian patients affected by CINCA syndrome F Caroli, A Pontillo, A D’Osualdo, L Travan, I Ceccherini, S Crovella, ... Rheumatology 46 (3), 473-478, 2007 | 82 | 2007 |
| Seawater warming at the northern reach for southern species: Gulf of Genoa, NW Mediterranean CN Bianchi, F Caroli, P Guidetti, C Morri Journal of the Marine Biological Association of the United Kingdom 98 (1), 1-12, 2018 | 80 | 2018 |
| Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population S Federici, G Calcagno, M Finetti, R Gallizzi, A Meini, A Vitale, F Caroli, ... Annals of the rheumatic diseases 71 (12), 1961-1965, 2012 | 79 | 2012 |
| Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases M Rusmini, S Federici, F Caroli, A Grossi, M Baldi, L Obici, A Insalaco, ... Annals of the rheumatic diseases 75 (8), 1550-1557, 2016 | 77 | 2016 |
| Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology R Santacroce, A Ratti, F Caroli, B Foglieni, A Ferraris, L Cremonesi, ... Clinical Chemistry 48 (12), 2124-2130, 2002 | 69 | 2002 |
| Pyoderma gangrenosum, acne and suppurative hidradenitis syndrome following bowel bypass surgery AV Marzano, RS Ishak, A Colombo, F Caroli, C Crosti Dermatology 225 (3), 215-219, 2013 | 63 | 2013 |
| Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers R Papa, M Rusmini, S Volpi, R Caorsi, P Picco, A Grossi, F Caroli, F Bovis, ... Rheumatology 59 (2), 344-360, 2020 | 60 | 2020 |
| An Asn> Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic … S Regis, M Filocamo, F Corsolini, F Caroli, JLM Keulemans, ... European Journal of Human Genetics 7 (2), 125-130, 1999 | 47 | 1999 |
| Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR. AE Covone, F Caroli, G Romeo American journal of human genetics 51 (3), 675, 1992 | 46 | 1992 |
| Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome. M Seri, S Melchionda, S Dreyer, M Marini, M Carella, R Cusano, ... International journal of molecular medicine 4 (3), 285-375, 1999 | 42 | 1999 |
| Clinical characteristics of patients carrying the Q703K variant of the NLRP3 gene: a 10-year multicentric national study A Naselli, F Penco, L Cantarini, A Insalaco, M Alessio, A Tommasini, ... The Journal of rheumatology 43 (6), 1093-1100, 2016 | 40 | 2016 |
| Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability M Marini, R Cusano, P De Biasio, F Caroli, M Lerone, M Silengo, ... American Journal of Medical Genetics Part A 117 (2), 112-115, 2003 | 39 | 2003 |
| Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E … F Vitelli, M Piccini, F Caroli, B Franco, A Malandrini, B Pober, J Jonsson, ... Genomics 55 (3), 335-340, 1999 | 39 | 1999 |
Isabella CeccheriniIstituto Giannina Gaslini, Genova, Italy在 unige.it 的电子邮件经过验证
