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A MEN1 syndrome with a paraganglioma.
Jamilloux Y, Favier J, Pertuit M, Delage-Corre M, Lopez S, Teissier MP, Mathonnet M, Galinat S, Barlier A, Archambeaud F. Jamilloux Y, et al. Among authors: favier j. Eur J Hum Genet. 2014 Feb;22(2):283-5. doi: 10.1038/ejhg.2013.128. Epub 2013 Jun 19. Eur J Hum Genet. 2014. PMID: 23778871 Free PMC article.
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. Among authors: favier j. 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.
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: favier j. Hum Mol Genet. 2011 Oct 15;20(20):3974-85. doi: 10.1093/hmg/ddr324. Epub 2011 Jul 22. Hum Mol Genet. 2011. PMID: 21784903
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: favier 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
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. Among authors: favier j. 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. Among authors: favier j. 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
DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers.
de Cubas AA, Korpershoek E, Inglada-Pérez L, Letouzé E, Currás-Freixes M, Fernández AF, Comino-Méndez I, Schiavi F, Mancikova V, Eisenhofer G, Mannelli M, Opocher G, Timmers H, Beuschlein F, de Krijger R, Cascon A, Rodríguez-Antona C, Fraga MF, Favier J, Gimenez-Roqueplo AP, Robledo M. de Cubas AA, et al. Among authors: favier j. Clin Cancer Res. 2015 Jul 1;21(13):3020-30. doi: 10.1158/1078-0432.CCR-14-2804. Epub 2015 Mar 30. Clin Cancer Res. 2015. PMID: 25825477
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Castro-Vega LJ, Kiando SR, Burnichon N, Buffet A, Amar L, Simian C, Berdelou A, Galan P, Schlumberger M, Bouatia-Naji N, Favier J, Bressac-de Paillerets B, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Among authors: favier j. J Clin Endocrinol Metab. 2016 Dec;101(12):4764-4768. doi: 10.1210/jc.2016-2103. Epub 2016 Sep 28. J Clin Endocrinol Metab. 2016. PMID: 27680874
217 results