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Page 1
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ. Azizan EA, et al. Among authors: tops b. Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913004
Adrenal nodularity and somatic mutations in primary aldosteronism: one node is the culprit?
Dekkers T, ter Meer M, Lenders JW, Hermus AR, Schultze Kool L, Langenhuijsen JF, Nishimoto K, Ogishima T, Mukai K, Azizan EA, Tops B, Deinum J, Küsters B. Dekkers T, et al. Among authors: tops b. J Clin Endocrinol Metab. 2014 Jul;99(7):E1341-51. doi: 10.1210/jc.2013-4255. Epub 2014 Apr 23. J Clin Endocrinol Metab. 2014. PMID: 24758183
Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characterization of a case and literature review.
Cordier F, Wesseling P, Tops BBJ, Kester L, French PJ, van den Bent M, Hinz F, Aronica E, Slot KM, Abbink F, van der Knaap MS, Kranendonk MEG. Cordier F, et al. Among authors: tops bbj. Free Neuropathol. 2024 May 3;5:5-11. doi: 10.17879/freeneuropathology-2024-5377. eCollection 2024 Jan. Free Neuropathol. 2024. PMID: 38716347 Free PMC article.
Ultra-fast deep-learned CNS tumour classification during surgery.
Vermeulen C, Pagès-Gallego M, Kester L, Kranendonk MEG, Wesseling P, Verburg N, de Witt Hamer P, Kooi EJ, Dankmeijer L, van der Lugt J, van Baarsen K, Hoving EW, Tops BBJ, de Ridder J. Vermeulen C, et al. Among authors: tops bbj. Nature. 2023 Oct;622(7984):842-849. doi: 10.1038/s41586-023-06615-2. Epub 2023 Oct 11. Nature. 2023. PMID: 37821699 Free PMC article.
Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.
van Belzen IAEM, Cai C, van Tuil M, Badloe S, Strengman E, Janse A, Verwiel ETP, van der Leest DFM, Kester L, Molenaar JJ, Meijerink J, Drost J, Peng WC, Kerstens HHD, Tops BBJ, Holstege FCP, Kemmeren P, Hehir-Kwa JY. van Belzen IAEM, et al. Among authors: tops bbj. BMC Cancer. 2023 Jul 3;23(1):618. doi: 10.1186/s12885-023-11054-3. BMC Cancer. 2023. PMID: 37400763 Free PMC article.
Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline.
Sahm F, Brandner S, Bertero L, Capper D, French PJ, Figarella-Branger D, Giangaspero F, Haberler C, Hegi ME, Kristensen BW, Kurian KM, Preusser M, Tops BBJ, van den Bent M, Wick W, Reifenberger G, Wesseling P. Sahm F, et al. Among authors: tops bbj. Neuro Oncol. 2023 Oct 3;25(10):1731-1749. doi: 10.1093/neuonc/noad100. Neuro Oncol. 2023. PMID: 37279174 Free PMC article.
Correction to: Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
Keck MK, Sill M, Wittmann A, Joshi P, Stichel D, Beck P, Okonechnikow K, Sievers P, Wefers AK, Roncaroli F, Avula S, McCabe MG, Hayden JT, Wesseling P, Øra I, Nistér M, Kranendonk MEG, Tops BBJ, Zapotocky M, Zamecnik J, Vasiljevic A, Fenouil T, Meyronet D, von Hoff K, Schüller U, Loiseau H, Figarella-Branger D, Kramm CM, Sturm D, Scheie D, Rauramaa T, Pesola J, Gojo J, Haberler C, Brandner S, Jacques T, Sexton Oates A, Saffery R, Koscielniak E, Baker SJ, Yip S, Snuderl M, Ud Din N, Samuel D, Schramm K, Blattner-Johnson M, Selt F, Ecker J, Milde T, von Deimling A, Korshunov A, Perry A, Pfister SM, Sahm F, Solomon DA, Jones DTW. Keck MK, et al. Among authors: tops bbj. Acta Neuropathol. 2023 Apr;145(4):511-514. doi: 10.1007/s00401-023-02538-4. Acta Neuropathol. 2023. PMID: 36786841 Free PMC article. No abstract available.
76 results