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Page 1
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: buffet a. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
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: buffet a. 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
The genetics of paragangliomas.
Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: buffet a. Eur Ann Otorhinolaryngol Head Neck Dis. 2012 Dec;129(6):315-8. doi: 10.1016/j.anorl.2012.04.007. Epub 2012 Oct 15. Eur Ann Otorhinolaryngol Head Neck Dis. 2012. PMID: 23078982 Free article. Review.
HIF2A mutations in paraganglioma with polycythemia.
Favier J, Buffet A, Gimenez-Roqueplo AP. Favier J, et al. Among authors: buffet a. 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.
SDH mutations establish a hypermethylator phenotype in paraganglioma.
Letouzé E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, Gimenez-Roqueplo AP, Favier J. Letouzé E, et al. Among authors: buffet a. Cancer Cell. 2013 Jun 10;23(6):739-52. doi: 10.1016/j.ccr.2013.04.018. Epub 2013 May 23. Cancer Cell. 2013. PMID: 23707781 Free article.
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
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. Among authors: buffet a. 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
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. Among authors: buffet a. Nat Commun. 2015 Jan 27;6:6044. doi: 10.1038/ncomms7044. Nat Commun. 2015. PMID: 25625332 Free PMC article.
87 results