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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I. Shinar Y, et al. Among authors: gattorno m. Clin Chem. 2020 Apr 1;66(4):525-536. doi: 10.1093/clinchem/hvaa024. Clin Chem. 2020. PMID: 32176780
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: gattorno m. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.
D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M. D'Osualdo A, et al. Among authors: gattorno m. Arthritis Rheum. 2006 Mar;54(3):998-1008. doi: 10.1002/art.21657. Arthritis Rheum. 2006. PMID: 16508982 Free article.
Diagnosis and management of autoinflammatory diseases in childhood.
Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A. Gattorno M, et al. J Clin Immunol. 2008 May;28 Suppl 1:S73-83. doi: 10.1007/s10875-008-9178-3. Epub 2008 Mar 27. J Clin Immunol. 2008. PMID: 18368292 Review.
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. 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. Pediatrics. 2009 Oct;124(4):e721-8. doi: 10.1542/peds.2009-0088. Epub 2009 Sep 28. Pediatrics. 2009. PMID: 19786432
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Piram M, Frenkel J, Gattorno M, Ozen S, Lachmann HJ, Goldbach-Mansky R, Hentgen V, Neven B, Stojanovic KS, Simon A, Kuemmerle-Deschner J, Hoffman H, Stojanov S, Duquesne A, Pillet P, Martini A, Pouchot J, Koné-Paut I; EUROFEVER and EUROTRAPS networks. Piram M, et al. Among authors: gattorno m. Ann Rheum Dis. 2011 Feb;70(2):309-14. doi: 10.1136/ard.2010.132613. Epub 2010 Nov 15. Ann Rheum Dis. 2011. PMID: 21081528 Free PMC article.
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.
Borghini S, Fiore M, Di Duca M, Caroli F, Finetti M, Santamaria G, Ferlito F, Bua F, Picco P, Obici L, Martini A, Gattorno M, Ceccherini I. Borghini S, et al. Among authors: gattorno m. J Rheumatol. 2011 Jul;38(7):1378-84. doi: 10.3899/jrheum.101260. Epub 2011 Apr 1. J Rheumatol. 2011. PMID: 21459945
384 results