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Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Kobow K, Jabari S, Pieper T, Kudernatsch M, Polster T, Woermann FG, Kalbhenn T, Hamer H, Rössler K, Mühlebner A, Spliet WGM, Feucht M, Hou Y, Stichel D, Korshunov A, Sahm F, Coras R, Blümcke I, von Deimling A. Kobow K, et al. Among authors: sahm f. Acta Neuropathol. 2020 Dec;140(6):881-891. doi: 10.1007/s00401-020-02228-5. Epub 2020 Sep 26. Acta Neuropathol. 2020. PMID: 32979071 Free PMC article.
Mutation specific antibodies: tool or dinosaur?
von Deimling A, Sahm F, Capper D. von Deimling A, et al. Among authors: sahm f. Oncotarget. 2012 Sep;3(9):907-8. doi: 10.18632/oncotarget.633. Oncotarget. 2012. PMID: 23006938 Free PMC article.
Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations.
Reuss DE, Piro RM, Jones DT, Simon M, Ketter R, Kool M, Becker A, Sahm F, Pusch S, Meyer J, Hagenlocher C, Schweizer L, Capper D, Kickingereder P, Mucha J, Koelsche C, Jäger N, Santarius T, Tarpey PS, Stephens PJ, Andrew Futreal P, Wellenreuther R, Kraus J, Lenartz D, Herold-Mende C, Hartmann C, Mawrin C, Giese N, Eils R, Collins VP, König R, Wiestler OD, Pfister SM, von Deimling A. Reuss DE, et al. Among authors: sahm f. Acta Neuropathol. 2013 Mar;125(3):351-8. doi: 10.1007/s00401-013-1093-x. Epub 2013 Feb 12. Acta Neuropathol. 2013. PMID: 23404370
405 results