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Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.
Auer F, Rüschendorf F, Gombert M, Husemann P, Ginzel S, Izraeli S, Harit M, Weintraub M, Weinstein OY, Lerer I, Stepensky P, Borkhardt A, Hauer J. Auer F, et al. Among authors: stepensky p. Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29. Leukemia. 2014. PMID: 24287434 No abstract available.
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
Linka RM, Risse SL, Bienemann K, Werner M, Linka Y, Krux F, Synaeve C, Deenen R, Ginzel S, Dvorsky R, Gombert M, Halenius A, Hartig R, Helminen M, Fischer A, Stepensky P, Vettenranta K, Köhrer K, Ahmadian MR, Laws HJ, Fleckenstein B, Jumaa H, Latour S, Schraven B, Borkhardt A. Linka RM, et al. Among authors: stepensky p. Leukemia. 2012 May;26(5):963-71. doi: 10.1038/leu.2011.371. Epub 2012 Jan 6. Leukemia. 2012. PMID: 22289921
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Stepensky P, Bartram J, Barth TF, Lehmberg K, Walther P, Amann K, Philips AD, Beringer O, Zur Stadt U, Schulz A, Amrolia P, Weintraub M, Debatin KM, Hoenig M, Posovszky C. Stepensky P, et al. Pediatr Blood Cancer. 2013 Jul;60(7):1215-22. doi: 10.1002/pbc.24475. Epub 2013 Feb 4. Pediatr Blood Cancer. 2013. PMID: 23382066
173 results