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Anzahl der Publikationen: 3
Zeitschriftenartikel
Vaczlavik, Anna; Bouys, Lucas; Violon, Florian; Giannone, Gaetan; Jouinot, Anne; Armignacco, Roberta; Cavalcante, Isadora P.; Berthon, Annabel; Letouze, Eric; Vaduva, Patricia; Barat, Maxime; Bonnet, Fideline; Perlemoine, Karine; Ribes, Christopher; Sibony, Mathilde; North, Marie-Odile; Espiard, Stephanie; Emy, Philippe; Haissaguerre, Magalie; Tauveron, Igor; Guignat, Laurence; Groussin, Lionel; Dousset, Bertrand; Reincke, Martin; Fragoso, Maria C.; Stratakis, Constantine A.; Pasmant, Eric; Libe, Rossella; Assie, Guillaume; Ragazzon, Bruno und Bertherat, Jerome
(2022):
KDM1A inactivation causes hereditary food-dependent Cushing syndrome.
In: Genetics in Medicine, Bd. 24, Nr. 2: S. 374-383
Bouys, Lucas; Vaczlavik, Anna; Jouinot, Anne; Vaduva, Patricia; Espiard, Stephanie; Assie, Guillaume; Libe, Rossella; Perlemoine, Karine; Ragazzon, Bruno; Guignat, Laurence; Groussin, Lionel; Bricaire, Leopoldine; Cavalcante, Isadora Pontes; Bonnet-Serrano, Fideline; Lefebvre, Herve; Raffin-Sanson, Marie-Laure; Chevalier, Nicolas; Touraine, Philippe; Jublanc, Christel; Vatier, Camille; Raverot, Gerald; Haissaguerre, Magalie; Maione, Luigi; Kroiss, Matthias; Fassnacht, Martin; Christin-Maitre, Sophie; Pasmant, Eric; Borson-Chazot, Francoise; Tabarin, Antoine; Vantyghem, Marie-Christine; Reincke, Martin; Kamenicky, Peter; North, Marie-Odile und Bertherat, Jerome
(2022):
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
In: European Journal of Endocrinology, Bd. 187, Nr. 1: S. 123-134
Hannah-Shmouni, Fady; Berthon, Annabel; Faucz, Fabio R.; Briceno, Juan Medina; Maria, Andrea Gutierrez; Demidowich, Andrew; Peitzsch, Mirko; Masjkur, Jimmy; Bonnet-Serrano, Fideline; Vaczlavik, Anna; Bertherat, Jerome; Reincke, Martin; Eisenhofer, Graeme und Stratakis, Constantine A.
(2020):
Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia.
In: Endocrine-Related Cancer, Bd. 27, Nr. 7: S. 403-413