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Genetics of Cushing's disease: an update.
Perez-Rivas LG, Reincke M. Perez-Rivas LG, et al. J Endocrinol Invest. 2016 Jan;39(1):29-35. doi: 10.1007/s40618-015-0353-0. Epub 2015 Jul 25. J Endocrinol Invest. 2016. PMID: 26208471 Review.
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.
Perez-Rivas LG, Theodoropoulou M, Ferraù F, Nusser C, Kawaguchi K, Stratakis CA, Faucz FR, Wildemberg LE, Assié G, Beschorner R, Dimopoulou C, Buchfelder M, Popovic V, Berr CM, Tóth M, Ardisasmita AI, Honegger J, Bertherat J, Gadelha MR, Beuschlein F, Stalla G, Komada M, Korbonits M, Reincke M. Perez-Rivas LG, et al. J Clin Endocrinol Metab. 2015 Jul;100(7):E997-1004. doi: 10.1210/jc.2015-1453. Epub 2015 May 5. J Clin Endocrinol Metab. 2015. PMID: 25942478 Free PMC article.
PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas.
Rhayem Y, Perez-Rivas LG, Dietz A, Bathon K, Gebhard C, Riester A, Mauracher B, Gomez-Sanchez C, Eisenhofer G, Schwarzmayr T, Calebiro D, Strom TM, Reincke M, Beuschlein F. Rhayem Y, et al. J Clin Endocrinol Metab. 2016 Aug;101(8):3010-7. doi: 10.1210/jc.2016-1700. Epub 2016 Jun 7. J Clin Endocrinol Metab. 2016. PMID: 27270477
Genetic characterization of a mouse line with primary aldosteronism.
Perez-Rivas LG, Rhayem Y, Sabrautzki S, Hantel C, Rathkolb B, Hrabě de Angelis M, Reincke M, Beuschlein F, Spyroglou A. Perez-Rivas LG, et al. J Mol Endocrinol. 2017 Feb;58(2):67-78. doi: 10.1530/JME-16-0200. Epub 2016 Dec 13. J Mol Endocrinol. 2017. PMID: 27965370 Free 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. 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
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: perez rivas lg. Neuro Oncol. 2019 Oct 9;21(10):1273-1283. doi: 10.1093/neuonc/noz109. Neuro Oncol. 2019. PMID: 31222332 Free PMC article.
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