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The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Bachetti T, Rosamilia F, Bartolucci M, Santamaria G, Mosconi M, Sartori S, De Filippo MR, Di Duca M, Obino V, Avanzini S, Mavilio D, Candiani S, Petretto A, Pini Prato A, Ceccherini I, Lantieri F. Bachetti T, et al. Among authors: santamaria g. Int J Mol Sci. 2021 Apr 7;22(8):3831. doi: 10.3390/ijms22083831. Int J Mol Sci. 2021. PMID: 33917126 Free PMC article.
The physical map of the human RET proto-oncogene.
Pasini B, Hofstra RM, Yin L, Bocciardi R, Santamaria G, Grootscholten PM, Ceccherini I, Patrone G, Priolo M, Buys CH, et al. Pasini B, et al. Among authors: santamaria g. Oncogene. 1995 Nov 2;11(9):1737-43. Oncogene. 1995. PMID: 7478601
Hirschsprung associated GDNF mutations do not prevent RET activation.
Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: santamaria g. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622
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: santamaria g. Arthritis Rheum. 2006 Mar;54(3):998-1008. doi: 10.1002/art.21657. Arthritis Rheum. 2006. PMID: 16508982 Free article.
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: santamaria g. Eur J Hum Genet. 2007 Aug;15(8):848-55. doi: 10.1038/sj.ejhg.5201852. Epub 2007 May 16. Eur J Hum Genet. 2007. PMID: 17505528
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasigliè D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M. Borghini S, et al. Among authors: santamaria g. Arthritis Rheum. 2011 Mar;63(3):830-9. doi: 10.1002/art.30170. Arthritis Rheum. 2011. PMID: 21360512 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: santamaria g. J Rheumatol. 2011 Jul;38(7):1378-84. doi: 10.3899/jrheum.101260. Epub 2011 Apr 1. J Rheumatol. 2011. PMID: 21459945
223 results