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New cellular markers at diagnosis are associated with isolated central nervous system relapse in paediatric B-cell precursor acute lymphoblastic leukaemia.
van der Velden VH, de Launaij D, de Vries JF, de Haas V, Sonneveld E, Voerman JS, de Bie M, Revesz T, Avigad S, Yeoh AE, Swagemakers SM, Eckert C, Pieters R, van Dongen JJ. van der Velden VH, et al. Among authors: swagemakers sm. Br J Haematol. 2016 Mar;172(5):769-81. doi: 10.1111/bjh.13887. Epub 2015 Dec 21. Br J Haematol. 2016. PMID: 26898195 Free article.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: swagemakers sma. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Thyrotropin acts as a T-cell developmental factor in mice and humans.
van der Weerd K, van Hagen PM, Schrijver B, Heuvelmans SJ, Hofland LJ, Swagemakers SM, Bogers AJ, Dik WA, Visser TJ, van Dongen JJ, van der Lelij AJ, Staal FJ. van der Weerd K, et al. Among authors: swagemakers sm. Thyroid. 2014 Jun;24(6):1051-61. doi: 10.1089/thy.2013.0396. Epub 2014 May 15. Thyroid. 2014. PMID: 24635198
ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus.
Breton A, Theodorou A, Aktuna S, Sonzogni L, Darling D, Chan L, Menzel S, van der Spek PJ, Swagemakers SM, Grosveld F, Philipsen S, Thein SL. Breton A, et al. Among authors: swagemakers sm. Br J Haematol. 2016 Nov;175(3):525-530. doi: 10.1111/bjh.14256. Epub 2016 Jul 19. Br J Haematol. 2016. PMID: 27434206 Free article.
A patient-based murine model recapitulates human STAT3 gain-of-function syndrome.
Meesilpavikkai K, Zhou Z, Kaikaew K, Phakham S, van der Spek PJ, Swagemakers S, Venter DJ, de Bie M, Schrijver B, Schliehe C, Kaiser F, Dalm VASH, van Hagen PM, Hirankarn N, IJspeert H, Dik WA. Meesilpavikkai K, et al. Clin Immunol. 2024 Sep;266:110312. doi: 10.1016/j.clim.2024.110312. Epub 2024 Jul 15. Clin Immunol. 2024. PMID: 39019339 Free article.
80 results