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367 results

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Page 1
Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.
Ronchi CL, Di Dalmazi G, Faillot S, Sbiera S, Assié G, Weigand I, Calebiro D, Schwarzmayr T, Appenzeller S, Rubin B, Waldmann J, Scaroni C, Bartsch DK, Mantero F, Mannelli M, Kastelan D, Chiodini I, Bertherat J, Reincke M, Strom TM, Fassnacht M, Beuschlein F; European Network for the Study of Adrenocortical Tumors (ENSAT). Ronchi CL, et al. Among authors: strom tm. J Clin Endocrinol Metab. 2016 Sep;101(9):3526-38. doi: 10.1210/jc.2016-1586. Epub 2016 Jul 7. J Clin Endocrinol Metab. 2016. PMID: 27389594
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas.
Lichtenauer UD, Di Dalmazi G, Slater EP, Wieland T, Kuebart A, Schmittfull A, Schwarzmayr T, Diener S, Wiese D, Thasler WE, Reincke M, Meitinger T, Schott M, Fassnacht M, Bartsch DK, Strom TM, Beuschlein F. Lichtenauer UD, et al. Among authors: strom tm. J Clin Endocrinol Metab. 2015 May;100(5):E776-82. doi: 10.1210/jc.2015-1100. Epub 2015 Mar 12. J Clin Endocrinol Metab. 2015. PMID: 25763608
Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.
Ronchi CL, Peverelli E, Herterich S, Weigand I, Mantovani G, Schwarzmayr T, Sbiera S, Allolio B, Honegger J, Appenzeller S, Lania AG, Reincke M, Calebiro D, Spada A, Buchfelder M, Flitsch J, Strom TM, Fassnacht M. Ronchi CL, et al. Among authors: strom tm. Eur J Endocrinol. 2016 Mar;174(3):363-72. doi: 10.1530/EJE-15-1064. Epub 2015 Dec 23. Eur J Endocrinol. 2016. PMID: 26701869 Free 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. Among authors: strom tm. 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
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M. Beuschlein F, et al. Among authors: strom tm. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. Nat Genet. 2013. PMID: 23416519
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: strom tm. Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8. Nat Genet. 2015. PMID: 25485838
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. Among authors: strom tm. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
Fernandes-Rosa FL, Williams TA, Riester A, Steichen O, Beuschlein F, Boulkroun S, Strom TM, Monticone S, Amar L, Meatchi T, Mantero F, Cicala MV, Quinkler M, Fallo F, Allolio B, Bernini G, Maccario M, Giacchetti G, Jeunemaitre X, Mulatero P, Reincke M, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: strom tm. Hypertension. 2014 Aug;64(2):354-61. doi: 10.1161/HYPERTENSIONAHA.114.03419. Epub 2014 May 27. Hypertension. 2014. PMID: 24866132 Free article.
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: strom tm. Neuro Oncol. 2019 Oct 9;21(10):1273-1283. doi: 10.1093/neuonc/noz109. Neuro Oncol. 2019. PMID: 31222332 Free PMC article.
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.
Calebiro D, Grassi ES, Eszlinger M, Ronchi CL, Godbole A, Bathon K, Guizzardi F, de Filippis T, Krohn K, Jaeschke H, Schwarzmayr T, Bircan R, Gozu HI, Sancak S, Niedziela M, Strom TM, Fassnacht M, Persani L, Paschke R. Calebiro D, et al. Among authors: strom tm. J Clin Invest. 2016 Sep 1;126(9):3383-8. doi: 10.1172/JCI84894. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500488 Free PMC article.
367 results