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Page 1
Pheochromocytomas and secreting paragangliomas.
Plouin PF, Gimenez-Roqueplo AP. Plouin PF, et al. Orphanet J Rare Dis. 2006 Dec 8;1:49. doi: 10.1186/1750-1172-1-49. Orphanet J Rare Dis. 2006. PMID: 17156452 Free PMC article. Review.
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. 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
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. 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
HIF2A mutations in paraganglioma with polycythemia.
Favier J, Buffet A, Gimenez-Roqueplo AP. Favier J, et al. N Engl J Med. 2012 Nov 29;367(22):2161; author reply 2161-2. doi: 10.1056/NEJMc1211953. N Engl J Med. 2012. PMID: 23190243 No abstract available.
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Buffet A, Smati S, Mansuy L, Ménara M, Lebras M, Heymann MF, Simian C, Favier J, Murat A, Cariou B, Gimenez-Roqueplo AP. Buffet A, et al. J Clin Endocrinol Metab. 2014 Feb;99(2):E369-73. doi: 10.1210/jc.2013-2600. Epub 2013 Nov 25. J Clin Endocrinol Metab. 2014. PMID: 24276449
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334767
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ, Letouzé E, Burnichon N, Buffet A, Disderot PH, Khalifa E, Loriot C, Elarouci N, Morin A, Menara M, Lepoutre-Lussey C, Badoual C, Sibony M, Dousset B, Libé R, Zinzindohoue F, Plouin PF, Bertherat J, Amar L, de Reyniès A, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Nat Commun. 2015 Jan 27;6:6044. doi: 10.1038/ncomms7044. Nat Commun. 2015. PMID: 25625332 Free PMC article.
248 results