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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Pansuriya TC, et al. Among authors: nord kh. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004. Nat Genet. 2011. PMID: 22057234 Free PMC article.
Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes.
Jin Y, Möller E, Nord KH, Mandahl N, Von Steyern FV, Domanski HA, Mariño-Enríquez A, Magnusson L, Nilsson J, Sciot R, Fletcher CD, Debiec-Rychter M, Mertens F. Jin Y, et al. Among authors: nord kh. Genes Chromosomes Cancer. 2012 May;51(5):510-20. doi: 10.1002/gcc.21939. Epub 2012 Feb 15. Genes Chromosomes Cancer. 2012. PMID: 22337624 Free article.
Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors.
Gebre-Medhin S, Nord KH, Möller E, Mandahl N, Magnusson L, Nilsson J, Jo VY, Vult von Steyern F, Brosjö O, Larsson O, Domanski HA, Sciot R, Debiec-Rychter M, Fletcher CD, Mertens F. Gebre-Medhin S, et al. Among authors: nord kh. Am J Pathol. 2012 Sep;181(3):1069-77. doi: 10.1016/j.ajpath.2012.05.030. Epub 2012 Jul 13. Am J Pathol. 2012. PMID: 22796436
36 results