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Imaging findings of COPA Syndrome.
Nguyen HN, Salman R, Vogel TP, Silva-Carmona M, DeGuzman M, Guillerman RP. Nguyen HN, et al. Among authors: deguzman m. Pediatr Radiol. 2023 May;53(5):844-853. doi: 10.1007/s00247-023-05600-1. Epub 2023 Feb 7. Pediatr Radiol. 2023. PMID: 36746811
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.
Vece TJ, Watkin LB, Nicholas S, Canter D, Braun MC, Guillerman RP, Eldin KW, Bertolet G, McKinley S, de Guzman M, Forbes L, Chinn I, Orange JS. Vece TJ, et al. J Clin Immunol. 2016 May;36(4):377-387. doi: 10.1007/s10875-016-0271-8. Epub 2016 Apr 5. J Clin Immunol. 2016. PMID: 27048656 Free PMC article. Review.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members; Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS. Poli MC, et al. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805043 Free PMC article.
Juvenile eosinophilic fasciitis: a single center case series.
Stubbs LA, Ogunbona O, Beil E, Szafron V, Adesina A, Anvari S, Lai J, Ramirez A, Ditzler MG, DeGuzman M. Stubbs LA, et al. Among authors: deguzman m. Pediatr Rheumatol Online J. 2024 Feb 24;22(1):29. doi: 10.1186/s12969-024-00960-w. Pediatr Rheumatol Online J. 2024. PMID: 38395889 Free PMC article.
96 results