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Progressive HNF1A-MODY pathophysiology revealed bya translational mouse model 通过转化小鼠模型揭示的渐进性HNF1A-MODY病理生理学 Louvet, Isaline; Acosta-Montalvo, Ana; Saponaro, Chiara; Moreno-Lopez, Maria; Douffi, Sana; El Karchaoui, Abdelkrim; Pasquetti, Gianni; Thevenet, Julien; Delalleau, Nathalie; Gmyr, Valery; Giacobini, Paolo; Espiard, Stephanie; Kerr-Conte, Julie; Pattou, Francois; Liston, Adrian; Bonner, Caroline 分享 收藏
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PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease Vaduva, Patricia; Violon, Florian; Chansavang, Albain; Hadjadj, Djihad; Raverot, Gerald; Espiard, Stephanie; Attia, Amina; Bouys, Lucas; Thomeret, Louis; Weber Kuhn, Aliny; Perlemoine, Karine; Chevalier, Nicolas; Vantyghem, Marie-Christine; Polak, Michel; Fragoso, Maria; Berthon, Annabel; Ragazzon, Bruno; Sibony, Mathilde; Pasmant, Eric; Jouinot, Anne; Bertherat, Jerome 分享 收藏
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Identification of metabolite biomarkers for pancreatic neuroendocrine tumours using a metabolomic approach 利用代谢组学方法鉴定胰腺神经内分泌肿瘤的代谢物生物标志物 Jannin, Arnaud; Dabo-Niang, Sophie; Cao, Christine Do; Descat, Amandine; Espiard, Stephanie; Cardot-Bauters, Catherine; Vantyghem, Marie-Christine; Chevalier, Benjamin; Goossens, Jean Francois; Marsac, Benjamin; Vandel, Jimmy; Dominguez, Sophie; Caiazzo, Robert; Pattou, Francois; Marciniak, Camille; El Amrani, Medhi; Van Seuningen, Isabelle; Jonckheere, Nicolas; Dessein, Anne-Frederique; Coppin, Lucie 分享 收藏
KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation Bouys, Lucas; Vaduva, Patricia; Jouinot, Anne; Violon, Florian; Vaczlavik, Anna; Barat, Maxime; Charchar, Helaine; Chasseloup, Fanny; Kamilaris, Crystal; Espiard, Stephanie; Haissaguerre, Magalie; Raverot, Gerald; Kroiss, Matthias; Berthon, Annabel; Perlemoine, Karine; Tauveron, Igor; Guignat, Laurence; Libe, Rossella; Groussin, Lionel; Assie, Guillaume; Pasmant, Eric; Reincke, Martin; Borson-Chazot, Francoise; Ferriere, Amandine; Vantyghem, Marie-Christine; Stratakis, Constantine A.; Kamenicky, Peter; Fragoso, Maria Candida Barisson Villares; Chansavang, Albain; Ragazzon, Bruno; Bertherat, Jerome 分享 收藏
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update Bouys, Lucas; Vaczlavik, Anna; Cavalcante, Isadora P.; Violon, Florian; Jouinot, Anne; Berthon, Annabel; Vaduva, Patricia; Espiard, Stephanie; Perlemoine, Karine; Kamenicky, Peter; Vantyghem, Marie-Christine; Tabarin, Antoine; Raverot, Gerald; Ronchi, Cristina L.; Dischinger, Ulrich; Reincke, Martin; Fragoso, Maria C.; Stratakis, Constantine A.; Chansavang, Albain; Pasmant, Eric; Ragazzon, Bruno; Bertherat, Jerome 分享 收藏
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PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series Vaduva, Patricia; Bouys, Lucas; Jouinot, Anne; Espiard, Stephanie; Chansavang, Albain; Berthon, Annabel; Neou, Mario; Vaczlavik, Anna; Violon, Florian; Charchar, Helaine; Kroiss, Matthias; Raverot, Gerald; Lasolle, Helene; Guignat, Laurence; Libe, Rossella; Assie, Guillaume; Tabarin, Antoine; Kamenicky, Peter; Pasmant, Eric; Fragoso, Maria; Stratakis, Constantine; Ragazzon, Bruno; Bertherat, Jerome 分享 收藏
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review Chevalier, Benjamin; Coppin, Lucie; Romanet, Pauline; Cuny, Thomas; Maiza, Jean-Christophe; Abeillon, Juliette; Forestier, Julien; Walter, Thomas; Gilly, Olivier; Le Bras, Maelle; Smati, Sarra; Nunes, Marie Laure; Geslot, Aurore; Grunenwald, Solange; Mouly, Celine; Arnault, Gwenaelle; Wagner, Kathy; Koumakis, Eugenie; Cortet-Rudelli, Christine; Merlen, Emilie; Jannin, Arnaud; Espiard, Stephanie; Morange, Isabelle; Baudin, Eric; Cavaille, Mathias; Tauveron, Igor; Teissier, Marie-Pierre; Borson-Chazot, Francoise; Mirebeau-Prunier, Delphine; Savagner, Frederique; Pasmant, Eric; Giraud, Sophie; Vantyghem, Marie-Christine; Goudet, Pierre; Barlier, Anne; Cardot-Bauters, Catherine; Odou, Marie Francoise 分享 收藏
Carney complex predisposes to breast cancer: prospective study of 50 women Vaduva, Patricia; Violon, Florian; Jouinot, Anne; Bouys, Lucas; Espiard, Stephanie; Bonnet-Serrano, Fideline; North, Marie Odile; Cardot-Bauters, Catherine; Raverot, Gerald; Hieronimus, Sylvie; Lefebvre, Herve; Nunes, Marie-Laure; Tabarin, Antoine; Groussin, Lionel; Assie, Guillaume; Sibony, Mathilde; Vantyghem, Marie-Christine; Pasmant, Eric; Bertherat, Jerome 分享 收藏
Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1 Dupuis, Hippolyte; Chevalier, Benjamin; Cardot-Bauters, Catherine; Jannin, Arnaud; Do Cao, Christine; Ladsous, Miriam; Cortet, Christine; Merlen, Emilie; Drouard, Magali; Aubert, Sebastien; Vidaud, Dominique; Espiard, Stephanie; Vantyghem, Marie-Christine 分享 收藏
Complete pathological response following chemotherapy and radiotherapy in two cases of advanced anaplastic thyroid carcinoma 2例晚期未分化甲状腺癌化疗和放疗后的完全病理反应 Chevalier, Benjamin; Karleskind, Oriane; Jannin, Arnaud; Farchi, Olivier; Vermaut, Catherine; Escande, Alexandre; Baillet, Clio; Espiard, Stephanie; Vantyghem, Marie-Christine; Carnaille, Bruno; Leteurtre, Emmanuelle; Do Cao, Christine 分享 收藏
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients 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; Bertherat, Jerome 分享 收藏
KDM1A inactivation causes hereditary food-dependent Cushing syndrome 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; Bertherat, Jerome 分享 收藏