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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. Among authors: imberti l. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.
Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R. Gulino AV, et al. Among authors: imberti l. Blood. 2004 Jul 15;104(2):444-52. doi: 10.1182/blood-2003-10-3532. Epub 2004 Mar 16. Blood. 2004. PMID: 15026312 Free article.
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.
Marcovecchio GE, Bortolomai I, Ferrua F, Fontana E, Imberti L, Conforti E, Amodio D, Bergante S, Macchiarulo G, D'Oria V, Conti F, Di Cesare S, Fousteri G, Carotti A, Giamberti A, Poliani PL, Notarangelo LD, Cancrini C, Villa A, Bosticardo M. Marcovecchio GE, et al. Among authors: imberti l. Front Immunol. 2019 Mar 15;10:447. doi: 10.3389/fimmu.2019.00447. eCollection 2019. Front Immunol. 2019. PMID: 30949166 Free PMC article. Clinical Trial.
Flow Cytometry Identifies Risk Factors and Dynamic Changes in Patients with COVID-19.
Moratto D, Chiarini M, Giustini V, Serana F, Magro P, Roccaro AM, Imberti L, Castelli F, Notarangelo LD, Quiros-Roldan E. Moratto D, et al. Among authors: imberti l. J Clin Immunol. 2020 Oct;40(7):970-973. doi: 10.1007/s10875-020-00806-6. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594342 Free PMC article. No abstract available.
199 results