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Targeted re-sequencing in pediatric and perinatal stroke.
Grossi A, Severino M, Rusmini M, Tortora D, Ramenghi LA, Cama A, Rossi A, Di Rocco M, Ceccherini I, Bertamino M; Gaslini Stroke Study Group. Grossi A, et al. Among authors: ceccherini i. Eur J Med Genet. 2020 Nov;63(11):104030. doi: 10.1016/j.ejmg.2020.104030. Epub 2020 Aug 18. Eur J Med Genet. 2020. PMID: 32818659
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Among authors: ceccherini i. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839
Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
Marzano AV, Ceccherini I, Gattorno M, Fanoni D, Caroli F, Rusmini M, Grossi A, De Simone C, Borghi OM, Meroni PL, Crosti C, Cugno M. Marzano AV, et al. Among authors: ceccherini i. Medicine (Baltimore). 2014 Dec;93(27):e187. doi: 10.1097/MD.0000000000000187. Medicine (Baltimore). 2014. PMID: 25501066 Free PMC article.
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: ceccherini i. 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
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Matera I, et al. Among authors: ceccherini i. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813947 Free PMC article.
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizzi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: ceccherini i. Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi: 10.1136/annrheumdis-2016-210802. Epub 2017 May 18. Ann Rheum Dis. 2017. PMID: 28522451 Free article.
265 results