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Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: gimenez roqueplo ap. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
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. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
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
SDHA is a tumor suppressor gene causing paraganglioma.
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Hum Mol Genet. 2010 Aug 1;19(15):3011-20. doi: 10.1093/hmg/ddq206. Epub 2010 May 18. Hum Mol Genet. 2010. PMID: 20484225 Free PMC article.
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.
Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M, Gimenez-Roqueplo AP, Leporrier M, Casadevall N, Hermine O, Kiladjian JJ, Baruchel A, Fakhoury F, Bressac-de Paillerets B, Feunteun J, Mazure N, Pouysségur J, Wenger RH, Richard S, Gardie B. Ladroue C, et al. Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644. Epub 2011 Sep 20. Haematologica. 2012. PMID: 21933857 Free PMC article.
243 results