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ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome
Assié, Guillaume, Libé, Rossella, Espiard, Stéphanie, Rizk-Rabin, Marthe, Guimier, Anne, Luscap, Windy, Barreau, Olivia, Lefèvre, Lucile, Sibony, Mathilde, Guignat, Laurence, Rodriguez, Stéphanie, Perlemoine, Karine, René-Corail, Fernande, Letourneur, Franck, Trabulsi, Bilal, Poussier, Alix, Chabbert-Buffet, Nathalie, Borson-Chazot, Françoise, Groussin, Lionel, Bertagna, Xavier, Stratakis, Constantine A, Ragazzon, Bruno, Bertherat, Jérôme
Published in The New England journal of medicine (28.11.2013)
Published in The New England journal of medicine (28.11.2013)
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Journal Article
Ten-Year Outcome of Islet Alone or Islet After Kidney Transplantation in Type 1 Diabetes: A Prospective Parallel-Arm Cohort Study
Vantyghem, Marie-Christine, Chetboun, Mikael, Gmyr, Valéry, Jannin, Arnaud, Espiard, Stéphanie, Le Mapihan, Kristell, Raverdy, Violeta, Delalleau, Nathalie, Machuron, François, Hubert, Thomas, Frimat, Marie, Van Belle, Eric, Hazzan, Marc, Pigny, Pascal, Noel, Christian, Caiazzo, Robert, Kerr-Conte, Julie, Pattou, François
Published in Diabetes care (01.11.2019)
Published in Diabetes care (01.11.2019)
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Journal Article
Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation
Faucz, Fabio R., Zilbermint, Mihail, Lodish, Maya B., Szarek, Eva, Trivellin, Giampaolo, Sinaii, Ninet, Berthon, Annabel, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Bertherat, Jerome, Stratakis, Constantine A.
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
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Journal Article
Carney complex predisposes to breast cancer: prospective study of 50 women
Vaduva, Patricia, Violon, Florian, Jouinot, Anne, Bouys, Lucas, Espiard, Stéphanie, Bonnet-Serrano, Fidéline, North, Marie Odile, Cardot-Bauters, Catherine, Raverot, Gerald, Hieronimus, Sylvie, Lefebvre, Hervé, Nunes, Marie-Laure, Tabarin, Antoine, Groussin, Lionel, Assié, Guillaume, Sibony, Mathilde, Vantyghem, Marie-Christine, Pasmant, Eric, Bertherat, Jérôme
Published in European journal of endocrinology (01.02.2024)
Published in European journal of endocrinology (01.02.2024)
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Journal Article
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences
Espiard, Stéphanie, Drougat, Ludivine, Libé, Rossella, Assié, Guillaume, Perlemoine, Karine, Guignat, Laurence, Barrande, Gaelle, Brucker-Davis, Françoise, Doullay, Françoise, Lopez, Stephanie, Sonnet, Emmanuel, Torremocha, Florence, Pinsard, Denis, Chabbert-Buffet, Nathalie, Raffin-Sanson, Marie-Laure, Groussin, Lionel, Borson-Chazot, Françoise, Coste, Joël, Bertagna, Xavier, Stratakis, Constantine A., Beuschlein, Felix, Ragazzon, Bruno, Bertherat, Jérôme
Published in The journal of clinical endocrinology and metabolism (01.06.2015)
Published in The journal of clinical endocrinology and metabolism (01.06.2015)
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Journal Article
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, Stéphanie, Assié, Guillaume, Libé, Rossella, Perlemoine, Karine, Ragazzon, Bruno, Guignat, Laurence, Groussin, Lionel, Bricaire, Léopoldine, Cavalcante, Isadora Pontes, Bonnet-Serrano, Fidéline, Lefebvre, Hervé, Raffin-Sanson, Marie-Laure, Chevalier, Nicolas, Touraine, Philippe, Jublanc, Christel, Vatier, Camille, Raverot, Gérald, Haissaguerre, Magalie, Maione, Luigi, Kroiss, Matthias, Fassnacht, Martin, Christin-Maitre, Sophie, Pasmant, Eric, Borson-Chazot, Françoise, Tabarin, Antoine, Vantyghem, Marie-Christine, Reincke, Martin, Kamenicky, Peter, North, Marie-Odile, Bertherat, Jérôme
Published in European journal of endocrinology (01.07.2022)
Published in European journal of endocrinology (01.07.2022)
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Journal Article
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, Letouzé, Eric, Vaduva, Patricia, Barat, Maxime, Bonnet, Fidéline, Perlemoine, Karine, Ribes, Christopher, Sibony, Mathilde, North, Marie-Odile, Espiard, Stéphanie, Emy, Philippe, Haissaguerre, Magalie, Tauveron, Igor, Guignat, Laurence, Groussin, Lionel, Dousset, Bertrand, Reincke, Martin, Fragoso, Maria C., Stratakis, Constantine A., Pasmant, Eric, Libé, Rossella, Assié, Guillaume, Ragazzon, Bruno, Bertherat, Jérôme
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
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, Stéphanie, Perlemoine, Karine, Kamenicky, Peter, Vantyghem, Marie-Christine, Tabarin, Antoine, Raverot, Gérald, Ronchi, Cristina L., Dischinger, Ulrich, Reincke, Martin, Fragoso, Maria C., Stratakis, Constantine A., Chansavang, Albain, Pasmant, Eric, Ragazzon, Bruno, Bertherat, Jérôme
Published in Orphanet journal of rare diseases (05.02.2025)
Published in Orphanet journal of rare diseases (05.02.2025)
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Journal Article
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, Maïza, Jean-Christophe, Abeillon, Juliette, Forestier, Julien, Walter, Thomas, Gilly, Olivier, Le Bras, Maëlle, Smati, Sarra, Nunes, Marie Laure, Geslot, Aurore, Grunenwald, Solange, Mouly, Céline, Arnault, Gwenaelle, Wagner, Kathy, Koumakis, Eugénie, Cortet-Rudelli, Christine, Merlen, Émilie, Jannin, Arnaud, Espiard, Stéphanie, Morange, Isabelle, Baudin, Éric, Cavaille, Mathias, Tauveron, Igor, Teissier, Marie-Pierre, Borson-Chazot, Françoise, Mirebeau-Prunier, Delphine, Savagner, Frédérique, Pasmant, Éric, Giraud, Sophie, Vantyghem, Marie-Christine, Goudet, Pierre, Barlier, Anne, Cardot-Bauters, Catherine, Odou, Marie Françoise
Published in The journal of clinical endocrinology and metabolism (01.07.2024)
Published in The journal of clinical endocrinology and metabolism (01.07.2024)
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Journal Article
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up
Espiard, Stéphanie, Vantyghem, Marie-Christine, Assié, Guillaume, Cardot-Bauters, Catherine, Raverot, Gerald, Brucker-Davis, Françoise, Archambeaud-Mouveroux, Françoise, Lefebvre, Hervé, Nunes, Marie-Laure, Tabarin, Antoine, Lienhardt, Anne, Chabre, Olivier, Houang, Muriel, Bottineau, Muriel, Stroër, Sebastian, Groussin, Lionel, Guignat, Laurence, Cabanes, Laure, Feydy, Antoine, Bonnet, Fidéline, North, Marie Odile, Dupin, Nicolas, Grabar, Sophie, Duboc, Denis, Bertherat, Jérôme
Published in The journal of clinical endocrinology and metabolism (01.03.2020)
Published in The journal of clinical endocrinology and metabolism (01.03.2020)
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Journal Article
Primary Aldosteronism and ARMC5 Variants
Zilbermint, Mihail, Xekouki, Paraskevi, Faucz, Fabio R., Berthon, Annabel, Gkourogianni, Alexandra, Schernthaner-Reiter, Marie Helene, Batsis, Maria, Sinaii, Ninet, Quezado, Martha M., Merino, Maria, Hodes, Aaron, Abraham, Smita B., Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Davis, Adam, Gebreab, Samson Y., Neff, Ryan, Kebebew, Electron, Bertherat, Jérôme, Lodish, Maya B., Stratakis, Constantine A.
Published in The journal of clinical endocrinology and metabolism (01.06.2015)
Published in The journal of clinical endocrinology and metabolism (01.06.2015)
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Journal Article
Identification of metabolite biomarkers for pancreatic neuroendocrine tumours using a metabolomic approach
Jannin, Arnaud, Dabo-Niang, Sophie, Do Cao, Christine, Descat, Amandine, Espiard, Stéphanie, Cardot-Bauters, Catherine, Vantyghem, Marie-Christine, Chevalier, Benjamin, Goossens, Jean François, Marsac, Benjamin, Vandel, Jimmy, Dominguez, Sophie, Caiazzo, Robert, Pattou, François, Marciniak, Camille, El Amrani, Medhi, Van Seuningen, Isabelle, Jonckheere, Nicolas, Dessein, Anne-Frédérique, Coppin, Lucie
Published in European journal of endocrinology (01.04.2025)
Published in European journal of endocrinology (01.04.2025)
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Journal Article
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, Stéphanie, Haissaguerre, Magalie, Raverot, Gérald, Kroiss, Matthias, Berthon, Annabel, Perlemoine, Karine, Tauveron, Igor, Guignat, Laurence, Libé, Rossella, Groussin, Lionel, Assié, Guillaume, Pasmant, Eric, Reincke, Martin, Borson-Chazot, Françoise, Ferrière, Amandine, Vantyghem, Marie-Christine, Stratakis, Constantine A, Kamenický, Peter, Fragoso, Maria Candida Barisson Villares, Chansavang, Albain, Ragazzon, Bruno, Bertherat, Jérôme
Published in European journal of endocrinology (01.02.2025)
Published in European journal of endocrinology (01.02.2025)
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Journal Article
Genomic classification of benign adrenocortical lesions
Faillot, Simon, Foulonneau, Thomas, Néou, Mario, Espiard, Stéphanie, Garinet, Simon, Vaczlavik, Anna, Jouinot, Anne, Rondof, Windy, Septier, Amandine, Drougat, Ludivine, Hécale-Perlemoine, Karine, Ragazzon, Bruno, Rizk-Rabin, Marthe, Sibony, Mathilde, Bonnet-Serrano, Fidéline, Guibourdenche, Jean, Libé, Rosella, Groussin, Lionel, Dousset, Bertrand, de Reyniès, Aurélien, Bertherat, Jérôme, Assié, Guillaume
Published in Endocrine-related cancer (01.01.2021)
Published in Endocrine-related cancer (01.01.2021)
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Journal Article
Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome
Tabarin, Antoine, Assié, Guillaume, Barat, Pascal, Bonnet, Fidéline, Bonneville, Jean François, Borson-Chazot, Françoise, Bouligand, Jérôme, Boulin, Anne, Brue, Thierry, Caron, Philippe, Castinetti, Frédéric, Chabre, Olivier, Chanson, Philippe, Corcuff, Jean Benoit, Cortet, Christine, Coutant, Régis, Dohan, Anthony, Drui, Delphine, Espiard, Stéphanie, Gaye, Delphine, Grunenwald, Solenge, Guignat, Laurence, Hindie, Elif, Illouz, Frédéric, Kamenicky, Peter, Lefebvre, Hervé, Linglart, Agnès, Martinerie, Laetitia, North, Marie Odile, Raffin-Samson, Marie Laure, Raingeard, Isabelle, Raverot, Gérald, Raverot, Véronique, Reznik, Yves, Taieb, David, Vezzosi, Delphine, Young, Jacques, Bertherat, Jérôme
Published in Annales d'endocrinologie (01.04.2022)
Published in Annales d'endocrinologie (01.04.2022)
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Journal Article
Activating PRKACB somatic mutation in cortisol-producing adenomas
Espiard, Stéphanie, Knape, Matthias J., Bathon, Kerstin, Assié, Guillaume, Rizk-Rabin, Marthe, Faillot, Simon, Luscap-Rondof, Windy, Abid, Daniel, Guignat, Laurence, Calebiro, Davide, Herberg, Friedrich W., Stratakis, Constantine A., Bertherat, Jérôme
Published in JCI insight (19.04.2018)
Published in JCI insight (19.04.2018)
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Journal Article
Complete pathological response following chemotherapy and radiotherapy in two cases of advanced anaplastic thyroid carcinoma
Chevalier, Benjamin, Karleskind, Oriane, Jannin, Arnaud, Farchi, Olivier, Vermaut, Catherine, Escande, Alexandre, Baillet, Clio, Espiard, Stéphanie, Vantyghem, Marie-Christine, Carnaille, Bruno, Leteurtre, Emmanuelle, Do Cao, Christine
Published in European thyroid journal (01.02.2023)
Published in European thyroid journal (01.02.2023)
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Journal Article
Surgery for the treatment of arterial hypertension in patients with unilateral adrenal incidentalomas and mild autonomous cortisol secretion (CHIRACIC): a multicentre, open-label, superiority randomised controlled trial
Tabarin, Antoine, Espiard, Stéphanie, Deutschbein, Timo, Amar, Laurence, Vezzossi, Delphine, Di Dalmazi, Guido, Reznik, Yves, Young, Jacques, Desailloud, Rachel, Goichot, Bernard, Drui, Delphine, Assié, Guillaume, Lefebvre, Hervé, Mai, Knut, Castinetti, Frédéric, Laboureau, Sandrine, Terzolo, Massimo, Ferriere, Amandine, Georget, Aurore, Frison, Eric, Vantyghem, Marie-Christine, Fassnacht, Martin, Gosse, Philippe, Bertherat, Jerome, Cariou, Bertrand, Cariou, Tanguy, Cazenave, Sarah, Cianferani, Mallory, Ernoult, Audrey, Fonteneau, Edith, Galioot, Amandine, Gaudissard, Julie, Gaujoux, Sebastien, Gautier, Severine, Gaye, Delphine, Guillot, Pascale, Herting, Marlène, Khiar, Hind, Kimpel, Otilia, Lavergne, Geraldine, Le Mapihan, Kristell, Mirallié, Eric, Möhres, Yvonne, Mosnier-Pudar, Helene, Mouly, Céline, Pattou, François, Perez, Paul, Pericart, Sarah, Piton, Katy, Reibetanz, Joachim, Rouvray, Corentin, Sahnoun, Mouna, Saidi, Meriama, Sauerwald, Janina, Taillandier, Virginie, Thoulouzan, Mathieu, Zavatta, Guido, Zopf, Kathrin
Published in The lancet. Diabetes & endocrinology (01.07.2025)
Published in The lancet. Diabetes & endocrinology (01.07.2025)
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Journal Article
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance
Ben Hamou, Adrien, Espiard, Stéphanie, Do Cao, Christine, Ladsous, Miriam, Loyer, Camille, Moerman, Alexandre, Boury, Samuel, Kyheng, Maéva, Dhaenens, Claire-Marie, Tiffreau, Vincent, Pigny, Pascal, Lebuffe, Gilles, Caiazzo, Robert, Aubert, Sébastien, Vantyghem, Marie Christine
Published in Orphanet journal of rare diseases (13.02.2019)
Published in Orphanet journal of rare diseases (13.02.2019)
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Journal Article
Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement
Cuny, Thomas, Reynaud, Rachel, Raverot, Gérald, Coutant, Régis, Chanson, Philippe, Kariyawasam, Dulanjalee, Poitou, Christine, Thomas-Teinturier, Cécile, Baussart, Bertrand, Samara-Boustani, Dinane, Feuvret, Loïc, Villanueva, Carine, Villa, Chiara, Bouillet, Benjamin, Tauber, Maïthé, Espiard, Stéphanie, Castets, Sarah, Beckers, Albert, Amsellem, Jessica, Vantyghem, Marie-Christine, Delemer, Brigitte, Chevalier, Nicolas, Brue, Thierry, André, Nicolas, Kerlan, Véronique, Graillon, Thomas, Raingeard, Isabelle, Alapetite, Claire, Raverot, Véronique, Salenave, Sylvie, Boulin, Anne, Appay, Romain, Dalmas, Florian, Fodil, Sarah, Coppin, Lucie, Buffet, Camille, Thuillier, Philippe, Castinetti, Frédéric, Vogin, Guillaume, Cazabat, Laure, Kuhn, Emmanuelle, Haissaguerre, Magalie, Reznik, Yves, Goichot, Bernard, Bachelot, Anne, Kamenicky, Peter, Decoudier, Bénédicte, Planchon, Charlotte, Micoulaud-Franchi, Jean-Arthur, Romanet, Pauline, Jacobi, David, Faucher, Pauline, Carette, Claire, Bihan, Hélène, Drui, Delphine, Rossignol, Sylvie, Gonin, Lucile, Sokol, Emmanuelle, Wiard, Laurent, Courtillot, Carine, Nicolino, Marc, Grunenwald, Solange, Chabre, Olivier, Christin-Maître, Sophie, Desailloud, Rachel, Maiter, Dominique, Guignat, Laurence, Brac de la Perrière, Aude, Salva, Philippe, Scavarda, Didier, Bonneville, Fabrice, Caron, Philippe, Vasiljevic, Alexandre, Leclercq, Delphine, Cortet, Christine, Gaillard, Stephan, Albarel, Frédérique, Clément, Karine, Jouanneau, Emmanuel, Dufour, Henry, Barat, Pascal, Gatta-Cherifi, Blandine
Published in Annales d'endocrinologie (01.02.2025)
Published in Annales d'endocrinologie (01.02.2025)
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Journal Article