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Page 1
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA. Georgitsi M, et al. Among authors: saeger w. Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):4101-5. doi: 10.1073/pnas.0700004104. Epub 2007 Feb 28. Proc Natl Acad Sci U S A. 2007. PMID: 17360484 Free PMC article.
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M. Reincke M, et al. Among authors: saeger w. Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8. Nat Genet. 2015. PMID: 25485838
Pituitary neuroendocrine tumors: a model for neuroendocrine tumor classification.
Asa SL, Mete O, Cusimano MD, McCutcheon IE, Perry A, Yamada S, Nishioka H, Casar-Borota O, Uccella S, La Rosa S, Grossman AB, Ezzat S; Attendees of the 15th Meeting of the International Pituitary Pathology Club, Istanbul October 2019. Asa SL, et al. Mod Pathol. 2021 Sep;34(9):1634-1650. doi: 10.1038/s41379-021-00820-y. Epub 2021 May 21. Mod Pathol. 2021. PMID: 34017065 Free article. Review.
From pituitary adenoma to pituitary neuroendocrine tumor (PitNET): an International Pituitary Pathology Club proposal.
Asa SL, Casar-Borota O, Chanson P, Delgrange E, Earls P, Ezzat S, Grossman A, Ikeda H, Inoshita N, Karavitaki N, Korbonits M, Laws ER Jr, Lopes MB, Maartens N, McCutcheon IE, Mete O, Nishioka H, Raverot G, Roncaroli F, Saeger W, Syro LV, Vasiljevic A, Villa C, Wierinckx A, Trouillas J; attendees of 14th Meeting of the International Pituitary Pathology Club, Annecy, France, November 2016. Asa SL, et al. Among authors: saeger w. Endocr Relat Cancer. 2017 Apr;24(4):C5-C8. doi: 10.1530/ERC-17-0004. Endocr Relat Cancer. 2017. PMID: 28264912
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
Åkerström T, Crona J, Delgado Verdugo A, Starker LF, Cupisti K, Willenberg HS, Knoefel WT, Saeger W, Feller A, Ip J, Soon P, Anlauf M, Alesina PF, Schmid KW, Decaussin M, Levillain P, Wängberg B, Peix JL, Robinson B, Zedenius J, Bäckdahl M, Caramuta S, Iwen KA, Botling J, Stålberg P, Kraimps JL, Dralle H, Hellman P, Sidhu S, Westin G, Lehnert H, Walz MK, Åkerström G, Carling T, Choi M, Lifton RP, Björklund P. Åkerström T, et al. Among authors: saeger w. PLoS One. 2012;7(7):e41926. doi: 10.1371/journal.pone.0041926. Epub 2012 Jul 27. PLoS One. 2012. PMID: 22848660 Free PMC article.
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
Pérez-Rivas LG, Theodoropoulou M, Puar TH, Fazel J, Stieg MR, Ferraù F, Assié G, Gadelha MR, Deutschbein T, Fragoso MC, Kusters B, Saeger W, Honegger J, Buchfelder M, Korbonits M, Bertherat J, Stalla GK, Hermus AR, Beuschlein F, Reincke M. Pérez-Rivas LG, et al. Among authors: saeger w. Eur J Endocrinol. 2018 Jan;178(1):57-63. doi: 10.1530/EJE-17-0634. Epub 2017 Oct 5. Eur J Endocrinol. 2018. PMID: 28982703
Impact of USP8 Gene Mutations on Protein Deregulation in Cushing Disease.
Weigand I, Knobloch L, Flitsch J, Saeger W, Monoranu CM, Höfner K, Herterich S, Rotermund R, Ronchi CL, Buchfelder M, Glatzel M, Hagel C, Fassnacht M, Deutschbein T, Sbiera S. Weigand I, et al. Among authors: saeger w. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2535-2546. doi: 10.1210/jc.2018-02564. J Clin Endocrinol Metab. 2019. PMID: 30844069
Driver mutations in USP8 wild-type Cushing's disease.
Sbiera S, Perez-Rivas LG, Taranets L, Weigand I, Flitsch J, Graf E, Monoranu CM, Saeger W, Hagel C, Honegger J, Assie G, Hermus AR, Stalla GK, Herterich S, Ronchi CL, Deutschbein T, Reincke M, Strom TM, Popov N, Theodoropoulou M, Fassnacht M. Sbiera S, et al. Among authors: saeger w. Neuro Oncol. 2019 Oct 9;21(10):1273-1283. doi: 10.1093/neuonc/noz109. Neuro Oncol. 2019. PMID: 31222332 Free PMC article.
TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome.
Perez-Rivas LG, Simon J, Albani A, Tang S, Roeber S, Assié G, Deutschbein T, Fassnacht M, Gadelha MR, Hermus AR, Stalla GK, Tichomirowa MA, Rotermund R, Flitsch J, Buchfelder M, Nasi-Kordhishti I, Honegger J, Thorsteinsdottir J, Saeger W, Herms J, Reincke M, Theodoropoulou M. Perez-Rivas LG, et al. Among authors: saeger w. Acta Neuropathol Commun. 2022 Sep 19;10(1):139. doi: 10.1186/s40478-022-01437-1. Acta Neuropathol Commun. 2022. PMID: 36123588 Free PMC article.
346 results