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328 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: baldi m. 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
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: baldi m. 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: baldi m. 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: baldi m. 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
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: baldi m. Arthritis Rheum. 2006 Mar;54(3):998-1008. doi: 10.1002/art.21657. Arthritis Rheum. 2006. PMID: 16508982 Free article.
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Ferretti M, Gattorno M, Chiocchetti A, Mesturini R, Orilieri E, Bensi T, Sormani MP, Cappellano G, Cerutti E, Nicola S, Biava A, Bardelli C, Federici S, Ceccherini I, Baldi M, Santoro C, Dianzani I, Martini A, Dianzani U. Ferretti M, et al. Among authors: baldi m. Arthritis Rheum. 2009 Nov;60(11):3476-84. doi: 10.1002/art.24905. Arthritis Rheum. 2009. PMID: 19877056 Free article.
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G. De Marco P, et al. Among authors: baldi m. Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25. Eur J Med Genet. 2011. PMID: 21708297
328 results