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249 results

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Page 1
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population.
Federici S, Calcagno G, Finetti M, Gallizzi R, Meini A, Vitale A, Caroli F, Cattalini M, Caorsi R, Zulian F, Tommasini A, Insalaco A, Sormani MP, Baldi M, Ceccherini I, Martini A, Gattorno M. Federici S, et al. Among authors: tommasini a. Ann Rheum Dis. 2012 Dec;71(12):1961-5. doi: 10.1136/annrheumdis-2011-200977. Epub 2012 May 12. Ann Rheum Dis. 2012. PMID: 22580583
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I. D'Osualdo A, et al. Among authors: tommasini a. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479
Clinical and genetic characterization of Italian patients affected by CINCA syndrome.
Caroli F, Pontillo A, D'Osualdo A, Travan L, Ceccherini I, Crovella S, Alessio M, Stabile A, Gattorno M, Tommasini A, Martini A, Lepore L. Caroli F, et al. Among authors: tommasini a. Rheumatology (Oxford). 2007 Mar;46(3):473-8. doi: 10.1093/rheumatology/kel269. Epub 2006 Aug 18. Rheumatology (Oxford). 2007. PMID: 16920754
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, Martini A. Gattorno M, et al. Among authors: tommasini a. Arthritis Rheum. 2008 Jun;58(6):1823-32. doi: 10.1002/art.23474. Arthritis Rheum. 2008. PMID: 18512793 Free article.
Differentiating PFAPA syndrome from monogenic periodic fevers.
Gattorno M, Caorsi R, Meini A, Cattalini M, Federici S, Zulian F, Cortis E, Calcagno G, Tommasini A, Consolini R, Simonini G, Pelagatti MA, Baldi M, Ceccherini I, Plebani A, Frenkel J, Sormani MP, Martini A. Gattorno M, et al. Among authors: tommasini a. Pediatrics. 2009 Oct;124(4):e721-8. doi: 10.1542/peds.2009-0088. Epub 2009 Sep 28. Pediatrics. 2009. PMID: 19786432
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Rusmini M, et al. Among authors: tommasini a. Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17. Ann Rheum Dis. 2016. PMID: 26386126
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizzi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Naselli A, et al. Among authors: tommasini a. J Rheumatol. 2016 Jun;43(6):1093-100. doi: 10.3899/jrheum.150962. Epub 2016 Apr 1. J Rheumatol. 2016. PMID: 27036377
249 results