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Page 1
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.
Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, Fischer E, Tizzani D, Pallauf A, Viola A, Amar L, Williams TA, Strom TM, Graf E, Bandulik S, Penton D, Plouin PF, Warth R, Allolio B, Jeunemaitre X, Veglio F, Reincke M. Mulatero P, et al. Among authors: strom tm. Hypertension. 2012 Feb;59(2):235-40. doi: 10.1161/HYPERTENSIONAHA.111.183996. Epub 2011 Dec 27. Hypertension. 2012. PMID: 22203740
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.
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
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
Daniil G, Fernandes-Rosa FL, Chemin J, Blesneac I, Beltrand J, Polak M, Jeunemaitre X, Boulkroun S, Amar L, Strom TM, Lory P, Zennaro MC. Daniil G, et al. Among authors: strom tm. EBioMedicine. 2016 Nov;13:225-236. doi: 10.1016/j.ebiom.2016.10.002. Epub 2016 Oct 4. EBioMedicine. 2016. PMID: 27729216 Free PMC article.
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: strom tm. Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403012 Free article.
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
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
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
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.
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
367 results