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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 Share Save
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 Share Save
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 Share Save
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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation Manoli, Irini; Sysol, Justin R.; Head, PamelaSara E.; Epping, Madeline W.; Gavrilova, Oksana; Crocker, Melissa K.; Sloan, Jennifer L.; Koutsoukos, Stefanos A.; Wang, Cindy; Ktena, Yiouli P.; Mendelson, Sophia; Pass, Alexandra R.; Zerfas, Patricia M.; Hoffmann, Victoria; Vernon, Hilary J.; Fletcher, Laura A.; Reynolds, James C.; Tsokos, Maria G.; Stratakis, Constantine A.; Voss, Stephan D.; Chen, Kong Y.; Brown, Rebecca J.; Hamosh, Ada; Berry, Gerard T.; Chen, Xiaoyuan Shawn; Yanovski, Jack A.; Venditti, Charles P. Share Save
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PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas De Sousa, Sunita M. C.; Shen, Angeline; Yates, Christopher J.; Clifton-Bligh, Roderick; Santoreneos, Stephen; King, James; Toubia, John; Trivellin, Giampaolo; Lania, Andrea G.; Stratakis, Constantine A.; Torpy, David J.; Scott, Hamish S. Share Save
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Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors Faucz, Fabio R.; Horvath, Anelia D.; Assie, Guillaume; Almeida, Madson Q.; Szarek, Eva; Boikos, Sosipatros; Angelousi, Anna; Levy, Isaac; Maria, Andrea G.; Chitnis, Ajay; Antonescu, Cristina R.; Claus, Rainer; Bertherat, Jerome; Plass, Christoph; Eng, Charis; Stratakis, Constantine A. Share Save
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