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Page 1
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B. Richter S, et al. Among authors: beuschlein f. Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27. Genet Med. 2019. PMID: 30050099 Free PMC article.
Pheochromocytoma in rats with multiple endocrine neoplasia (MENX) shares gene expression patterns with human pheochromocytoma.
Molatore S, Liyanarachchi S, Irmler M, Perren A, Mannelli M, Ercolino T, Beuschlein F, Jarzab B, Wloch J, Ziaja J, Zoubaa S, Neff F, Beckers J, Höfler H, Atkinson MJ, Pellegata NS. Molatore S, et al. Among authors: beuschlein f. Proc Natl Acad Sci U S A. 2010 Oct 26;107(43):18493-8. doi: 10.1073/pnas.1003956107. Epub 2010 Oct 11. Proc Natl Acad Sci U S A. 2010. PMID: 20937862 Free PMC article.
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Among authors: beuschlein f. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
Simultaneous liquid chromatography tandem mass spectrometric determination of urinary free metanephrines and catecholamines, with comparisons of free and deconjugated metabolites.
Peitzsch M, Pelzel D, Glöckner S, Prejbisz A, Fassnacht M, Beuschlein F, Januszewicz A, Siegert G, Eisenhofer G. Peitzsch M, et al. Among authors: beuschlein f. Clin Chim Acta. 2013 Mar 15;418:50-8. doi: 10.1016/j.cca.2012.12.031. Epub 2013 Jan 9. Clin Chim Acta. 2013. PMID: 23313054
Analysis of plasma 3-methoxytyramine, normetanephrine and metanephrine by ultraperformance liquid chromatography-tandem mass spectrometry: utility for diagnosis of dopamine-producing metastatic phaeochromocytoma.
Peitzsch M, Prejbisz A, Kroiß M, Beuschlein F, Arlt W, Januszewicz A, Siegert G, Eisenhofer G. Peitzsch M, et al. Among authors: beuschlein f. Ann Clin Biochem. 2013 Mar;50(Pt 2):147-55. doi: 10.1258/acb.2012.012112. Ann Clin Biochem. 2013. PMID: 23512172
Levodopa therapy in Parkinson's disease: influence on liquid chromatographic tandem mass spectrometric-based measurements of plasma and urinary normetanephrine, metanephrine and methoxytyramine.
Eisenhofer G, Brown S, Peitzsch M, Pelzel D, Lattke P, Glöckner S, Stell A, Prejbisz A, Fassnacht M, Beuschlein F, Januszewicz A, Siegert G, Reichmann H. Eisenhofer G, et al. Among authors: beuschlein f. Ann Clin Biochem. 2014 Jan;51(Pt 1):38-46. doi: 10.1177/0004563213487894. Epub 2013 Jul 19. Ann Clin Biochem. 2014. PMID: 23873873
Biochemical diagnosis of phaeochromocytoma using plasma-free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions.
Därr R, Pamporaki C, Peitzsch M, Miehle K, Prejbisz A, Peczkowska M, Weismann D, Beuschlein F, Sinnott R, Bornstein SR, Neumann HP, Januszewicz A, Lenders J, Eisenhofer G. Därr R, et al. Among authors: beuschlein f. Clin Endocrinol (Oxf). 2014 Apr;80(4):478-86. doi: 10.1111/cen.12327. Epub 2013 Oct 17. Clin Endocrinol (Oxf). 2014. PMID: 24102244 Clinical Trial.
H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series.
Oudijk L, de Krijger RR, Rapa I, Beuschlein F, de Cubas AA, Dei Tos AP, Dinjens WN, Korpershoek E, Mancikova V, Mannelli M, Papotti M, Vatrano S, Robledo M, Volante M. Oudijk L, et al. Among authors: beuschlein f. J Clin Endocrinol Metab. 2014 Jul;99(7):E1376-80. doi: 10.1210/jc.2013-3879. Epub 2014 Mar 31. J Clin Endocrinol Metab. 2014. PMID: 24684458 Free article.
Integrated genomic characterization of adrenocortical carcinoma.
Assié G, Letouzé E, Fassnacht M, Jouinot A, Luscap W, Barreau O, Omeiri H, Rodriguez S, Perlemoine K, René-Corail F, Elarouci N, Sbiera S, Kroiss M, Allolio B, Waldmann J, Quinkler M, Mannelli M, Mantero F, Papathomas T, De Krijger R, Tabarin A, Kerlan V, Baudin E, Tissier F, Dousset B, Groussin L, Amar L, Clauser E, Bertagna X, Ragazzon B, Beuschlein F, Libé R, de Reyniès A, Bertherat J. Assié G, et al. Among authors: beuschlein f. Nat Genet. 2014 Jun;46(6):607-12. doi: 10.1038/ng.2953. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747642
Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.
Richter S, Peitzsch M, Rapizzi E, Lenders JW, Qin N, de Cubas AA, Schiavi F, Rao JU, Beuschlein F, Quinkler M, Timmers HJ, Opocher G, Mannelli M, Pacak K, Robledo M, Eisenhofer G. Richter S, et al. Among authors: beuschlein f. J Clin Endocrinol Metab. 2014 Oct;99(10):3903-11. doi: 10.1210/jc.2014-2151. Epub 2014 Jul 11. J Clin Endocrinol Metab. 2014. PMID: 25014000 Free PMC article.
515 results