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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ. Ravell JC, et al. Among authors: angelus p. J Clin Invest. 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116. J Clin Invest. 2020. PMID: 31714901 Free PMC article.
A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.
Desjardins M, Arjunaraja S, Stinson JR, Dorjbal B, Sundaresan J, Niemela J, Raffeld M, Matthews HF, Wang A, Angelus P, Su HC, Mazer BD, Snow AL. Desjardins M, et al. Among authors: angelus p. Front Immunol. 2018 Dec 12;9:2944. doi: 10.3389/fimmu.2018.02944. eCollection 2018. Front Immunol. 2018. PMID: 30619304 Free PMC article.
Communication plays a critical role in web-based monitoring.
Levine BA, Turner JW, Robinson JD, Angelus P, Hu TM. Levine BA, et al. Among authors: angelus p. J Diabetes Sci Technol. 2009 May 1;3(3):461-7. doi: 10.1177/193229680900300309. J Diabetes Sci Technol. 2009. PMID: 20144283 Free PMC article.
21 results