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Francesco Caroli
Francesco Caroli
U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini
Verified email at unige.it
Title
Cited by
Cited by
Year
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
4392008
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
2332008
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
1942011
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
1382014
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
1241999
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
1192011
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
772018
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
752012
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
712016
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
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
622013
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
542020
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
471999
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
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
391999
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
382003
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