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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Among authors: burnichon n. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 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. Among authors: burnichon n. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.
Timmers HJ, Pacak K, Bertherat J, Lenders JW, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Tran BH, Burnichon N, Gimenez-Roqueplo AP. Timmers HJ, et al. Among authors: burnichon n. Clin Endocrinol (Oxf). 2008 Apr;68(4):561-6. doi: 10.1111/j.1365-2265.2007.03086.x. Epub 2007 Oct 31. Clin Endocrinol (Oxf). 2008. PMID: 17973943
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
The Warburg effect is genetically determined in inherited pheochromocytomas.
Favier J, Brière JJ, Burnichon N, Rivière J, Vescovo L, Benit P, Giscos-Douriez I, De Reyniès A, Bertherat J, Badoual C, Tissier F, Amar L, Libé R, Plouin PF, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP. Favier J, et al. Among authors: burnichon n. PLoS One. 2009 Sep 18;4(9):e7094. doi: 10.1371/journal.pone.0007094. PLoS One. 2009. PMID: 19763184 Free PMC article.
A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?
Richalet JP, Gimenez-Roqueplo AP, Peyrard S, Vénisse A, Marelle L, Burnichon N, Bouzamondo A, Jeunemaitre X, Azizi M, Elghozi JL. Richalet JP, et al. Among authors: burnichon n. Clin Auton Res. 2009 Dec;19(6):335-42. doi: 10.1007/s10286-009-0028-z. Clin Auton Res. 2009. PMID: 19768395
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN. Gaal J, et al. Among authors: burnichon n. J Clin Endocrinol Metab. 2010 Mar;95(3):1274-8. doi: 10.1210/jc.2009-2170. Epub 2009 Nov 13. J Clin Endocrinol Metab. 2010. PMID: 19915015
74 results