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366 results

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Page 1
Metabolic impact of pheochromocytoma/paraganglioma: targeted metabolomics in patients before and after tumor removal.
Erlic Z, Kurlbaum M, Deutschbein T, Nölting S, Prejbisz A, Timmers H, Richter S, Prehn C, Weismann D, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Robledo M, Eisenhofer G, Beuschlein F, Kroiss M. Erlic Z, et al. Among authors: robledo m. Eur J Endocrinol. 2019 Dec;181(6):647-657. doi: 10.1530/EJE-19-0589. Eur J Endocrinol. 2019. PMID: 31614337
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group. Bausch B, et al. Among authors: robledo m. J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. doi: 10.1210/jc.2006-2833. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426081
Genetics of pheochromocytoma and paraganglioma in Spanish patients.
Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M. Cascón A, et al. Among authors: robledo m. J Clin Endocrinol Metab. 2009 May;94(5):1701-5. doi: 10.1210/jc.2008-2756. Epub 2009 Mar 3. J Clin Endocrinol Metab. 2009. PMID: 19258401
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo AP, Cascon A, Robledo M, de Campos JM, van Nederveen FH, de Krijger RR, Burnichon N, Gaal J, Walter MA, Reschke K, Wiech T, Weber J, Rückauer K, Plouin PF, Darrouzet V, Giraud S, Eng C, Neumann HP. Boedeker CC, et al. Among authors: robledo m. J Clin Endocrinol Metab. 2009 Jun;94(6):1938-44. doi: 10.1210/jc.2009-0354. Epub 2009 Mar 31. J Clin Endocrinol Metab. 2009. PMID: 19336503 Free PMC article. Review.
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stöver T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kühnemund M, Koscielny S, Schwerdtfeger P, Välimäki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C. Neumann HP, et al. Among authors: robledo m. Cancer Res. 2009 Apr 15;69(8):3650-6. doi: 10.1158/0008-5472.CAN-08-4057. Epub 2009 Apr 7. Cancer Res. 2009. PMID: 19351833
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP. Erlic Z, et al. Among authors: robledo m. J Clin Endocrinol Metab. 2010 Jan;95(1):308-13. doi: 10.1210/jc.2009-1728. Epub 2009 Nov 11. J Clin Endocrinol Metab. 2010. PMID: 19906784 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: robledo m. 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
Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.
Qin N, de Cubas AA, Garcia-Martin R, Richter S, Peitzsch M, Menschikowski M, Lenders JW, Timmers HJ, Mannelli M, Opocher G, Economopoulou M, Siegert G, Chavakis T, Pacak K, Robledo M, Eisenhofer G. Qin N, et al. Among authors: robledo m. Int J Cancer. 2014 Nov 1;135(9):2054-64. doi: 10.1002/ijc.28868. Epub 2014 Apr 7. Int J Cancer. 2014. PMID: 24676840 Free article.
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: robledo m. 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.
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: robledo m. 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.
366 results