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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
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.
Bricaire L, Odou MF, Cardot-Bauters C, Delemer B, North MO, Salenave S, Vezzosi D, Kuhn JM, Murat A, Caron P, Sadoul JL, Silve C, Chanson P, Barlier A, Clauser E, Porchet N, Groussin L; GTE Group. Bricaire L, et al. J Clin Endocrinol Metab. 2013 Feb;98(2):E403-8. doi: 10.1210/jc.2012-2789. Epub 2013 Jan 4. J Clin Endocrinol Metab. 2013. PMID: 23293331
[Genetic diagnosis of phaeochromocytomas and paragangliomas].
Cardot-Bauters C, Ainaouï M, Coppin L, Pigny P. Cardot-Bauters C, et al. Presse Med. 2014 Apr;43(4 Pt 1):460-7. doi: 10.1016/j.lpm.2013.07.032. Epub 2014 Mar 4. Presse Med. 2014. PMID: 24612707 Review. French.
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?
Nozières C, Zhang CX, Buffet A, Dupasquier S, Vargas-Poussou R, Guillaud-Bataille M, Cordier-Bussat M, Ruszniewski P, Christin-Maitre S, Murat A, Groussin L, Vezzosi D, Cardot-Bauters C, Hervieu V, Joly MO, Giraud S, Odou MF, Gimenez-Roqueplo AP, Goudet P, Borson-Chazot F, Calender A; Groupe français des tumeurs endocrines (GTE). Nozières C, et al. Ann Endocrinol (Paris). 2014 Jul;75(3):133-40. doi: 10.1016/j.ando.2014.05.003. Epub 2014 Jul 2. Ann Endocrinol (Paris). 2014. PMID: 24997771
58 results