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TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.
Ribi S, Baumhoer D, Lee K, Edison, Teo AS, Madan B, Zhang K, Kohlmann WK, Yao F, Lee WH, Hoi Q, Cai S, Woo XY, Tan P, Jundt G, Smida J, Nathrath M, Sung WK, Schiffman JD, Virshup DM, Hillmer AM. Ribi S, et al. Among authors: kohlmann wk. Oncotarget. 2015 Apr 10;6(10):7727-40. doi: 10.18632/oncotarget.3115. Oncotarget. 2015. PMID: 25762628 Free PMC article.
Melanoma mimic: a case of multiple pagetoid Spitz nevi.
Harris K, Florell SR, Papenfuss J, Kohlmann W, Jahromi M, Schiffman JD, Quackenbush J, Cassidy P, Leachman S. Harris K, et al. Arch Dermatol. 2012 Mar;148(3):370-4. doi: 10.1001/archdermatol.2011.356. Epub 2011 Nov 21. Arch Dermatol. 2012. PMID: 22105811
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Villani A, Shore A, Wasserman JD, Stephens D, Kim RH, Druker H, Gallinger B, Naumer A, Kohlmann W, Novokmet A, Tabori U, Tijerin M, Greer ML, Finlay JL, Schiffman JD, Malkin D. Villani A, et al. Lancet Oncol. 2016 Sep;17(9):1295-305. doi: 10.1016/S1470-2045(16)30249-2. Epub 2016 Aug 5. Lancet Oncol. 2016. PMID: 27501770
Discussing and managing hematologic germ line variants.
Kohlmann W, Schiffman JD. Kohlmann W, et al. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):309-315. doi: 10.1182/asheducation-2016.1.309. Hematology Am Soc Hematol Educ Program. 2016. PMID: 27913496 Free PMC article. Review.
135 results