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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. Cohen AS, et al. Among authors: senger c. Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5. Am J Med Genet A. 2014. PMID: 24903541 Free article.
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, Del Bel KL, Tarailo-Graovac M, van Karnebeek C, Terry J, Senger C, McKinnon ML, Seear M, Prendiville JS, Tucker LB, Houghton K, Cabral DA, Guzman J, Petty RE, Brown KL, Tekano J, Wu J, Morishita KA, Turvey SE. Ragotte RJ, et al. Among authors: senger c. Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31. Clin Immunol. 2017. PMID: 28043923
Combined immunodeficiency associated with homozygous MALT1 mutations.
McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, Marr N, Martin SD, Marwaha AK, Priatel JJ, Tan R, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Sly LM, Holt RA, Patel MS, Friedman JM, Turvey SE. McKinnon ML, et al. Among authors: senger c. J Allergy Clin Immunol. 2014 May;133(5):1458-62, 1462.e1-7. doi: 10.1016/j.jaci.2013.10.045. Epub 2013 Dec 12. J Allergy Clin Immunol. 2014. PMID: 24332264 Clinical Trial. No abstract available.
193 results