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Page 1
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Castro-Vega LJ, Kiando SR, Burnichon N, Buffet A, Amar L, Simian C, Berdelou A, Galan P, Schlumberger M, Bouatia-Naji N, Favier J, Bressac-de Paillerets B, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Among authors: burnichon n. J Clin Endocrinol Metab. 2016 Dec;101(12):4764-4768. doi: 10.1210/jc.2016-2103. Epub 2016 Sep 28. J Clin Endocrinol Metab. 2016. PMID: 27680874
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Cazabat L, et al. Among authors: burnichon n. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.
Timmers HJ, Pacak K, Bertherat J, Lenders JW, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Tran BH, Burnichon N, Gimenez-Roqueplo AP. Timmers HJ, et al. Among authors: burnichon n. Clin Endocrinol (Oxf). 2008 Apr;68(4):561-6. doi: 10.1111/j.1365-2265.2007.03086.x. Epub 2007 Oct 31. Clin Endocrinol (Oxf). 2008. PMID: 17973943
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: burnichon n. 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: burnichon n. 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.
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP; PGL.NET network. Burnichon N, et al. J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. doi: 10.1210/jc.2008-2504. Epub 2009 May 19. J Clin Endocrinol Metab. 2009. PMID: 19454582
The Warburg effect is genetically determined in inherited pheochromocytomas.
Favier J, Brière JJ, Burnichon N, Rivière J, Vescovo L, Benit P, Giscos-Douriez I, De Reyniès A, Bertherat J, Badoual C, Tissier F, Amar L, Libé R, Plouin PF, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP. Favier J, et al. Among authors: burnichon n. PLoS One. 2009 Sep 18;4(9):e7094. doi: 10.1371/journal.pone.0007094. PLoS One. 2009. PMID: 19763184 Free PMC article.
78 results