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479 results

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Page 1
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: bertherat j. Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374. Epub 2012 Sep 6. Hum Mol Genet. 2012. PMID: 22962301
Genetic testing in pheochromocytoma or functional paraganglioma.
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. Among authors: bertherat j. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Benn DE, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. doi: 10.1210/jc.2005-1862. Epub 2005 Nov 29. J Clin Endocrinol Metab. 2006. PMID: 16317055
Development of novel tools for the diagnosis and prognosis of pheochromocytoma using peptide marker immunoassay and gene expression profiling approaches.
Anouar Y, Yon L, Guillemot J, Thouennon E, Barbier L, Gimenez-Roqueplo AP, Bertherat J, Lefebvre H, Klein M, Muresan M, Grouzmann E, Plouin PF, Vaudry H, Elkahloun AG. Anouar Y, et al. Among authors: bertherat j. Ann N Y Acad Sci. 2006 Aug;1073:533-40. doi: 10.1196/annals.1353.057. Ann N Y Acad Sci. 2006. PMID: 17102122
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: bertherat j. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy.
Thouënnon E, Elkahloun AG, Guillemot J, Gimenez-Roqueplo AP, Bertherat J, Pierre A, Ghzili H, Grumolato L, Muresan M, Klein M, Lefebvre H, Ouafik L, Vaudry H, Plouin PF, Yon L, Anouar Y. Thouënnon E, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2007 Dec;92(12):4865-72. doi: 10.1210/jc.2007-1253. Epub 2007 Sep 18. J Clin Endocrinol Metab. 2007. PMID: 17878247
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: bertherat j. 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
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. Among authors: bertherat j. 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
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
van Nederveen FH, Gaal J, Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, Mannelli M, Bayley JP, Perren A, Niemann S, Verhofstad AA, de Bruïne AP, Maher ER, Tissier F, Méatchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, François J, de Herder WW, Peeters MP, van Linge A, Lenders JW, Gimenez-Roqueplo AP, de Krijger RR, Dinjens WN. van Nederveen FH, et al. Among authors: bertherat j. Lancet Oncol. 2009 Aug;10(8):764-71. doi: 10.1016/S1470-2045(09)70164-0. Epub 2009 Jul 1. Lancet Oncol. 2009. PMID: 19576851 Free PMC article. Clinical Trial.
479 results