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Francesco Caroli
Francesco Caroli
U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini
Adresse e-mail validée de unige.it
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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
4462008
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
2372008
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
2002011
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
1462014
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
1251999
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
1182011
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
952005
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
832007
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
822018
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
822012
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
782016
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
692002
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
652020
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
652013
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
481999
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
461992
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
421999
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
402016
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
402003
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
401999
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