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Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J. Buffet A, et al. Among authors: bertherat j. Cancer Res. 2018 Apr 15;78(8):1914-1922. doi: 10.1158/0008-5472.CAN-17-2463. Epub 2018 Feb 5. Cancer Res. 2018. PMID: 29431636
The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors.
Groussin L, Perlemoine K, Contesse V, Lefebvre H, Tabarin A, Thieblot P, Schlienger JL, Luton JP, Bertagna X, Bertherat J. Groussin L, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2002 May;87(5):1980-5. doi: 10.1210/jcem.87.5.8458. J Clin Endocrinol Metab. 2002. PMID: 11994328
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.
Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA. Bertherat J, et al. Cancer Res. 2003 Sep 1;63(17):5308-19. Cancer Res. 2003. PMID: 14500362
Genetic testing in pheochromocytoma or functional paraganglioma.
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. Among authors: bertherat j. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Benn DE, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. doi: 10.1210/jc.2005-1862. Epub 2005 Nov 29. J Clin Endocrinol Metab. 2006. PMID: 16317055
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2006 May;91(5):1943-9. doi: 10.1210/jc.2005-2708. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464939 Free article.
Expression of serotonin7 receptor and coupling of ectopic receptors to protein kinase A and ionic currents in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome.
Louiset E, Contesse V, Groussin L, Cartier D, Duparc C, Barrande G, Bertherat J, Vaudry H, Lefebvre H. Louiset E, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2006 Nov;91(11):4578-86. doi: 10.1210/jc.2006-0538. Epub 2006 Sep 5. J Clin Endocrinol Metab. 2006. PMID: 16954157
Development of novel tools for the diagnosis and prognosis of pheochromocytoma using peptide marker immunoassay and gene expression profiling approaches.
Anouar Y, Yon L, Guillemot J, Thouennon E, Barbier L, Gimenez-Roqueplo AP, Bertherat J, Lefebvre H, Klein M, Muresan M, Grouzmann E, Plouin PF, Vaudry H, Elkahloun AG. Anouar Y, et al. Among authors: bertherat j. Ann N Y Acad Sci. 2006 Aug;1073:533-40. doi: 10.1196/annals.1353.057. Ann N Y Acad Sci. 2006. PMID: 17102122
465 results