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Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: danielian s. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Bruton tyrosine kinase gene mutations in Argentina.
Danielian S, El-Hakeh J, Basílico G, Oleastro M, Rosenzweig S, Feldman G, Berozdnik L, Galicchio M, Gallardo A, Giraudi V, Liberatore D, Rivas EM, Zelazko M. Danielian S, et al. Hum Mutat. 2003 Apr;21(4):451. doi: 10.1002/humu.9131. Hum Mutat. 2003. PMID: 12655572
A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.
Simesen de Bielke MG, Yancoski J, Rocco C, Pérez LE, Cantisano C, Pérez N, Oleastro M, Danielian S. Simesen de Bielke MG, et al. Among authors: danielian s. J Clin Immunol. 2012 Dec;32(6):1197-203. doi: 10.1007/s10875-012-9731-y. Epub 2012 Jul 3. J Clin Immunol. 2012. PMID: 22752343
Noninfectious complications in patients with pediatric-onset common variable immunodeficiency correlated with defects in somatic hypermutation but not in class-switch recombination.
Almejún MB, Campos BC, Patiño V, Galicchio M, Zelazko M, Oleastro M, Oppezzo P, Danielian S. Almejún MB, et al. Among authors: danielian s. J Allergy Clin Immunol. 2017 Mar;139(3):913-922. doi: 10.1016/j.jaci.2016.08.030. Epub 2016 Oct 3. J Allergy Clin Immunol. 2017. PMID: 27713077
75 results