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126 results on '"Libé, Rossella"'

2. Clinicopathological description of 43 oncocytic adrenocortical tumors: importance of Ki-67 in histoprognostic evaluation

Author

Renaudin, Karine, Smati, Sarra, Wargny, Matthieu, Al Ghuzlan, Abir, Aubert, Sébastien, Leteurtre, Emmanuelle, Patey, Martine, Sibony, Mathilde, Sturm, Nathalie, Tissier, Frédérique, Amar, Laurence, Bertherat, Jérôme, Berthozat, Claudine, Chabre, Olivier, Do Cao, Christine, Haissaguerre, Magalie, Pierre, Peggy, Briet, Claire, Vezzosi, Delphine, Lifante, Jean Christophe, Pattou, François, Mirallie, Eric, Baudin, Eric, Cariou, Bertrand, Libe, Rossella, and Drui, Delphine

Published
2018
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3. Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.

Author

Rothenbuhler, Anya, Horvath, Anelia, Libé, Rossella, Faucz, Fabio, Fratticci, Amato, Raffin Sanson, Marie, Vezzosi, Delphine, Azevedo, Monalisa, Levy, Isaak, Almeida, Madson, Lodish, Maya, Nesterova, Maria, Bertherat, Jérôme, and Stratakis, Constantine

Subjects
3, 5-Cyclic-AMP Phosphodiesterases, Adrenal Cortex, Adrenal Gland Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Reverse Transcriptase Polymerase Chain Reaction
Abstract

BACKGROUND: Genetic aberrations in various components of cAMP signalling pathway predispose to endocrine tumours. Mutations in the phosphodiesterases (PDEs) are involved in the predisposition to adrenocortical neoplastic conditions. OBJECTIVE: To screen for genetic variations in PDE8B among patients with different types of adrenocortical tumours. DESIGN AND SUBJECTS: This is a case-control study followed by functional analyses. Two hundred and sixteen unrelated patients with different types of adrenocortical tumours and 192 healthy control individuals participated in the study. METHODS: Bidirectional Sanger sequencing, in vitro cell line transfection and in silico modelling are used in this study. RESULTS: Nine different PDE8B sequence changes, six novel and three previously reported, were identified in our patients and controls. Two of the variations, seen only in the patient group, showed significant potential to impair protein function, both in vitro and in silico. CONCLUSION: PDE8B is another PDE gene in which variations may contribute to predisposition of adrenocortical tumours.

Published
2012

5. Adjuvant mitotane versus surveillance in low-grade, localised adrenocortical carcinoma (ADIUVO): an international, multicentre, open-label, randomised, phase 3 trial and observational study

Author

Terzolo, Massimo, Fassnacht, Martin, Perotti, Paola, Libé, Rossella, Kastelan, Darko, Lacroix, André, Arlt, Wiebke, Haak, Harm Reinout, Loli, Paola, Decoudier, Bénédicte, Lasolle, Helene, Quinkler, Marcus, Haissaguerre, Magalie, Chabre, Olivier, Caron, Philippe, Stigliano, Antonio, Giordano, Roberta, Zatelli, Maria Chiara, Bancos, Irina, Fragoso, Maria Candida Barisson Villares, Canu, Letizia, Luconi, Michaela, Puglisi, Soraya, Basile, Vittoria, Reimondo, Giuseppe, Kroiss, Matthias, Megerle, Felix, Hahner, Stefanie, Kimpel, Otilia, Dusek, Tina, et al, Terzolo, Massimo, Fassnacht, Martin, Perotti, Paola, Libé, Rossella, Kastelan, Darko, Lacroix, André, Arlt, Wiebke, Haak, Harm Reinout, Loli, Paola, Decoudier, Bénédicte, Lasolle, Helene, Quinkler, Marcus, Haissaguerre, Magalie, Chabre, Olivier, Caron, Philippe, Stigliano, Antonio, Giordano, Roberta, Zatelli, Maria Chiara, Bancos, Irina, Fragoso, Maria Candida Barisson Villares, Canu, Letizia, Luconi, Michaela, Puglisi, Soraya, Basile, Vittoria, Reimondo, Giuseppe, Kroiss, Matthias, Megerle, Felix, Hahner, Stefanie, Kimpel, Otilia, Dusek, Tina, and et al

Abstract

BACKGROUND Adjuvant treatment with mitotane is commonly used after resection of adrenocortical carcinoma; however, treatment remains controversial, particularly if risk of recurrence is not high. We aimed to assess the efficacy and safety of adjuvant mitotane compared with surveillance alone following complete tumour resection in patients with adrenocortical carcinoma considered to be at low to intermediate risk of recurrence. METHODS ADIUVO was a multicentre, open-label, parallel, randomised, phase 3 trial done in 23 centres across seven countries. Patients aged 18 years or older with adrenocortical carcinoma and low to intermediate risk of recurrence (R0, stage I-III, and Ki67 ≤10%) were randomly assigned to adjuvant oral mitotane two or three times daily (the dose was adjusted by the local investigator with the target of reaching and maintaining plasma mitotane concentrations of 14-20 mg/L) for 2 years or surveillance alone. All consecutive patients at 14 study centres fulfilling the eligibility criteria of the ADIUVO trial who refused randomisation and agreed on data collection via the European Network for the Study of Adrenal Tumors adrenocortical carcinoma registry were included prospectively in the ADIUVO Observational study. The primary endpoint was recurrence-free survival, defined as the time from randomisation to the first radiological evidence of recurrence or death from any cause (whichever occurred first), assessed in all randomly assigned patients by intention to treat. Overall survival, defined as time from the date of randomisation to the date of death from any cause, was a secondary endpoint analysed by intention to treat in all randomly assigned patients. Safety was assessed in all patients who adhered to the assigned regimen, which was defined by taking at least one tablet of mitotane in the mitotane group and no mitotane at all in the surveillance group. The ADIUVO trial is registered with ClinicalTrials.gov, NCT00777244, and is now complete. FI

Published
2023

6. OR12-3 Identification of Predictive Criteria for the Primary Bilateral Macronodular Adrenal Hyperplasia Gene ARMC5: A European Series of 352 Unselected Patients.

Author

Assié, Guillaume, primary, Bertherat, Jérôme, additional, Bonnet-Serrano, Fidéline, additional, Borson-Chazot, Françoise, additional, Bricaire, Léopoldine, additional, Cavalcante, Isadora P, additional, Chevalier, Nicolas, additional, Christin-Maitre, Sophie, additional, Espiard, Stéphanie, additional, Fassnacht, Martin, additional, Groussin, Lionel, additional, Guignat, Laurence, additional, Haissaguerre, Magalie, additional, Jouinot, Anne, additional, Jublanc, Christel, additional, Kamenicky, Peter, additional, Kroiss, Matthias, additional, Lefebvre, Hervé, additional, Libé, Rossella, additional, Maione, Luigi, additional, North, Marie-Odile, additional, Pasmant, Eric, additional, Perlemoine, Karine, additional, Raffin-Sanson, Marie-Laure, additional, Ragazzon, Bruno, additional, Raverot, Gérald, additional, Reincke, Martin, additional, Tabarin, Antoine, additional, Touraine, Philippe, additional, Vaczlavik, Anna, additional, Vaduva, Patricia, additional, Vantyghem, Marie-Christine, additional, Vatier, Camille, additional, and Bouys, Lucas, additional

Published
2022
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7. OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia

Author

Armignacco, Roberta, primary, Assié, Guillaume, additional, Barat, Maxime, additional, Bertherat, Jérôme, additional, Berthon, Annabel, additional, Bonnet-Serrano, Fidéline, additional, Cavalcante, Isadora P, additional, Dousset, Bertrand, additional, Giannone, Gaëtan, additional, Groussin, Lionel, additional, Guignat, Laurence, additional, Jouinot, Anne, additional, Libé, Rossella, additional, North, Marie-Odile, additional, Pasmant, Eric, additional, Perlemoine, Karine, additional, Ragazzon, Bruno, additional, Ribes, Christopher, additional, Sibony, Mathilde, additional, Vaczlavik, Anna, additional, Vaduva, Patricia, additional, Violon, Florian, additional, and Bouys, Lucas, additional

Published
2022
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8. Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma

Author

Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R, Ettaieb, Hester, Haak, Harm, Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, and Lalli, Enzo

Published
2017

9. KDM1A inactivation causes hereditary food-dependent Cushing syndrome

Author

Vaczlavik, Anna, primary, Bouys, Lucas, additional, Violon, Florian, additional, Giannone, Gaetan, additional, Jouinot, Anne, additional, Armignacco, Roberta, additional, Cavalcante, Isadora P., additional, Berthon, Annabel, additional, Letouzé, Eric, additional, Vaduva, Patricia, additional, Barat, Maxime, additional, Bonnet, Fidéline, additional, Perlemoine, Karine, additional, Ribes, Christopher, additional, Sibony, Mathilde, additional, North, Marie-Odile, additional, Espiard, Stéphanie, additional, Emy, Philippe, additional, Haissaguerre, Magalie, additional, Tauveron, Igor, additional, Guignat, Laurence, additional, Groussin, Lionel, additional, Dousset, Bertrand, additional, Reincke, Martin, additional, Fragoso, Maria C., additional, Stratakis, Constantine A., additional, Pasmant, Eric, additional, Libé, Rossella, additional, Assié, Guillaume, additional, Ragazzon, Bruno, additional, and Bertherat, Jérôme, additional

Published
2022
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10. Adrenal Mass Characterization in the Era of Quantitative Imaging: State of the Art

Author

Barat, Maxime, primary, Cottereau, Anne-Ségolène, additional, Gaujoux, Sébastien, additional, Tenenbaum, Florence, additional, Sibony, Mathilde, additional, Bertherat, Jérôme, additional, Libé, Rossella, additional, Gaillard, Martin, additional, Jouinot, Anne, additional, Assié, Guillaume, additional, Hoeffel, Christine, additional, Soyer, Philippe, additional, and Dohan, Anthony, additional

Published
2022
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11. Primary Aldosteronism and ARMC5 Variants

Author

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., and Stratakis, Constantine A.

Published
2015

12. ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

Author

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, and Bertherat, Jérôme

Published
2015

17. One-Year Progression-Free Survival of Therapy-Naive Patients With Malignant Pheochromocytoma and Paraganglioma

Author

Hescot, Ségolène, Leboulleux, Sophie, Amar, Laurence, Vezzosi, Delphine, Borget, Isabelle, Bournaud-Salinas, Claire, de la Fouchardiere, Christelle, Libé, Rossella, Do Cao, Christine, Niccoli, Patricia, Tabarin, Antoine, Raingeard, Isabelle, Chougnet, Cécile, Giraud, Sophie, Gimenez-Roqueplo, Anne-Paule, Young, Jacques, Borson-Chazot, Francoise, Bertherat, Jérôme, Wemeau, Jean-Louis, Bertagna, Xavier, Plouin, Pierre-Francois, Schlumberger, Martin, and Baudin, Eric

Published
2013

18. Imaging Work-Up for Screening of Paraganglioma and Pheochromocytoma in SDHx Mutation Carriers: A Multicenter Prospective Study from the PGL.EVA Investigators

Author

Gimenez-Roqueplo, Anne-Paule, Caumont-Prim, Aurore, Houzard, Claire, Hignette, Chantal, Hernigou, Anne, Halimi, Philippe, Niccoli, Patricia, Leboulleux, Sophie, Amar, Laurence, Borson-Chazot, Françoise, Cardot-Bauters, Catherine, Delemer, Brigitte, Chabolle, Frédéric, Coupier, Isabelle, Libé, Rossella, Peitzsch, Mirko, Peyrard, Séverine, Tenenbaum, Florence, Plouin, Pierre-François, Chatellier, Gilles, and Rohmer, Vincent

Published
2013

19. Mitotane Therapy in Adrenocortical Cancer Induces CYP3A4 and Inhibits 5α-Reductase, Explaining the Need for Personalized Glucocorticoid and Androgen Replacement

Author

Chortis, Vasileios, Taylor, Angela E., Schneider, Petra, Tomlinson, Jeremy W., Hughes, Beverly A., OʼNeil, Donna M., Libé, Rossella, Allolio, Bruno, Bertagna, Xavier, Bertherat, Jérôme, Beuschlein, Felix, Fassnacht, Martin, Karavitaki, Niki, Mannelli, Massimo, Mantero, Franco, Opocher, Giuseppe, Porfiri, Emilio, Quinkler, Marcus, Sherlock, Mark, Terzolo, Massimo, Nightingale, Peter, Shackleton, Cedric H. L., Stewart, Paul M., Hahner, Stefanie, and Arlt, Wiebke

Published
2013

22. Urine Steroid Metabolomics as a Biomarker Tool for Detecting Malignancy in Adrenal Tumors

Author

Arlt, Wiebke, Biehl, Michael, Taylor, Angela E., Hahner, Stefanie, Libé, Rossella, Hughes, Beverly A., Schneider, Petra, Smith, David J., Stiekema, Han, Krone, Nils, Porfiri, Emilio, Opocher, Giuseppe, Bertherat, Jerôme, Mantero, Franco, Allolio, Bruno, Terzolo, Massimo, Nightingale, Peter, Shackleton, Cedric H. L., Bertagna, Xavier, Fassnacht, Martin, and Stewart, Paul M.

Published
2011

23. Wnt/β-Catenin Pathway Activation in Adrenocortical Adenomas Is Frequently due to Somatic CTNNB1-Activating Mutations, Which Are Associated with Larger and Nonsecreting Tumors: A Study in Cortisol-Secreting and -Nonsecreting Tumors

Author

Bonnet, Stéphane, Gaujoux, Sébastien, Launay, Pierre, Baudry, Camille, Chokri, Ilham, Ragazzon, Bruno, Libé, Rossella, René-Corail, Fernande, Audebourg, Anne, Vacher-Lavenu, Marie-Cécile, Groussin, Lionel, Bertagna, Xavier, Dousset, Bertrand, Bertherat, Jérôme, and Tissier, Frédérique

Published
2011

24. Frequent Phosphodiesterase 11A Gene (PDE11A) Defects in Patients with Carney Complex (CNC) Caused by PRKAR1A Mutations: PDE11A May Contribute to Adrenal and Testicular Tumors in CNC as a Modifier of the Phenotype

Author

Libé, Rossella, Horvath, Anelia, Vezzosi, Delphine, Fratticci, Amato, Coste, Joel, Perlemoine, Karine, Ragazzon, Bruno, Guillaud-Bataille, Marine, Groussin, Lionel, Clauser, Eric, Raffin-Sanson, Marie-Laure, Siegel, Jennifer, Moran, Jason, Drori-Herishanu, Limor, Faucz, Fabio Rueda, Lodish, Maya, Nesterova, Maria, Bertagna, Xavier, Bertherat, Jerome, and Stratakis, Constantine A.

Published
2011

27. Wnt/β-Catenin Pathway Activation in Adrenocortical Adenomas Is Frequently due to Somatic CTNNB1-Activating Mutations, Which Are Associated with Larger and Nonsecreting Tumors: A Study in Cortisol-Secreting and -Nonsecreting Tumors

Author

Bonnet, Stéphane, Gaujoux, Sébastien, Launay, Pierre, Baudry, Camille, Chokri, Ilham, Ragazzon, Bruno, Libé, Rossella, René-Corail, Fernande, Audebourg, Anne, Vacher-Lavenu, Marie-Cécile, Groussin, Lionel, Bertagna, Xavier, Dousset, Bertrand, Bertherat, Jérôme, and Tissier, Frédérique

Published
2010

32. 18F-Fluorodeoxyglucose Positron Emission Tomography for the Diagnosis of Adrenocortical Tumors: A Prospective Study in 77 Operated Patients

Author

Groussin, Lionel, Bonardel, Gérald, Silvéra, Stéphane, Tissier, Frédérique, Coste, Joël, Abiven, Gwenaelle, Libé, Rossella, Bienvenu, Marie, Alberini, Jean-Louis, Salenave, Sylvie, Bouchard, Philippe, Bertherat, Jérôme, Dousset, Bertrand, Legmann, Paul, Richard, Bruno, Foehrenbach, Hervé, Bertagna, Xavier, and Tenenbaum, Florence

Published
2009

34. Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma

Author

Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, Bertherat, Jérôme, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, and Bertherat, Jérôme

Published
2019

35. Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma

Author

Pathologie patiënten zorg, Pathologie Pathologen staf, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, Bertherat, Jérôme, Pathologie patiënten zorg, Pathologie Pathologen staf, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, and Bertherat, Jérôme

Published
2019

37. KDM1Ainactivation causes hereditary food-dependent Cushing syndrome

Author

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, and Bertherat, Jérôme

Abstract

This study aimed to investigate the genetic cause of food-dependent Cushing syndrome (FDCS) observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) and adrenal ectopic expression of the glucose-dependent insulinotropic polypeptide receptor. Germline ARMC5alterations have been reported in about 25% of PBMAH index cases but are absent in patients with FDCS.

Published
2022
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38. Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma

Author

Pathologie Pathologen staf, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, Lalli, Enzo, Pathologie Pathologen staf, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, and Lalli, Enzo

Published
2017

39. A Rare Cause of Hypertestosteronemia in a 68-Year-Old Patient: A Leydig Cell Tumor Due to a Somatic GNAS (Guanine Nucleotide-Binding Protein, Alpha-Stimulating Activity Polypeptide 1)-Activating Mutation

Author

Libé, Rossella, Fratticci, Amato, Lahlou, Najiba, Jornayvaz, François, Tissier, Frédérique, Louiset, Estelle, Guibourdenche, Jean, Vieillefond, Annick, Zerbib, Marc, Bertherat, Jérôme, Libe, R., Jornayvaz, R., Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), [Institut Cochin] Département Endocrinologie, métabolisme, diabète (EMD) (EMD), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Laboratoire de Biologie hormonale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Saint-Vincent de Paul, Service de pathologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), La grossesse normale et pathologique: développement et fonctions du placenta et de l'utérus (UMR_S 767), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'anatomie pathologique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'urologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Saint-Vincent de Paul, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]

Subjects
Male, MESH: Orchiectomy, Somatic cell, Endocrinology, Diabetes and Metabolism, 0302 clinical medicine, Endocrinology, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], GTP-Binding Protein alpha Subunits, Gs, Missense mutation, Testosterone, MESH: Testicular Neoplasms, MESH: Aged, Estradiol, Leydig cell, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, medicine.anatomical_structure, Gynecomastia, 030220 oncology & carcinogenesis, MESH: Estradiol, Leydig Cell Tumor, endocrine system, medicine.medical_specialty, MESH: Leydig Cell Tumor, medicine.drug_class, Urology, Mutation, Missense, MESH: Testosterone, 030209 endocrinology & metabolism, Biology, MESH: Chromogranins, 03 medical and health sciences, Testicular Neoplasms, Internal medicine, Chromogranins, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], medicine, GNAS complex locus, Humans, Inhibins, Aged, MESH: Mutation, Missense, MESH: Humans, MESH: GTP-Binding Protein alpha Subunits, Gs, MESH: Inhibins, medicine.disease, MESH: Male, Reproductive Medicine, Estrogen, biology.protein, Orchiectomy
Abstract

International audience; Leydig cell tumors of the testis are the most common type of non-germ cell testicular tumors. In adult patients, gynecomastia, oligozoospermia, erectile dysfunction, and other signs of feminization can be present, whereas testosterone levels are frequently in the normal range or slightly reduced. We describe a patient with a history of impaired sexual function, as well as progressive enlargement of the left testis, without gynecomastia. Hormonal evaluation demonstrated very high testosterone, estrogen, and pan-alpha-inhibin levels. Magnetic resonance imaging revealed the presence of left testicular hypertrophy without evidence of testicular mass. After left orchiectomy, histologic examination confirmed the diagnosis of Leydig cell tumor, and steroid hormone levels normalized. A heterozygous missense somatic gsp mutation (R201C) was found in tumoral tissue, whereas no mutation was found in the surrounding normal tissue or in leukocyte DNA. This case provides evidence that somatic activating gsp mutation in Leydig cells may result in tumor development, leading to overexpression of the inhibin alpha subunit and hyperactivity of the testosterone biosynthetic pathway.

Published
2011

40. PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease

Author

Bram, Zakariae, primary, Louiset, Estelle, additional, Ragazzon, Bruno, additional, Renouf, Sylvie, additional, Wils, Julien, additional, Duparc, Céline, additional, Boutelet, Isabelle, additional, Rizk-Rabin, Marthe, additional, Libé, Rossella, additional, Young, Jacques, additional, Carson, Dennis, additional, Vantyghem, Marie-Christine, additional, Szarek, Eva, additional, Martinez, Antoine, additional, Stratakis, Constantine A., additional, Bertherat, Jérôme, additional, and Lefebvre, Hervé, additional

Published
2016
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41. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Author

Zheng, Siyuan, primary, Cherniack, Andrew D., additional, Dewal, Ninad, additional, Moffitt, Richard A., additional, Danilova, Ludmila, additional, Murray, Bradley A., additional, Lerario, Antonio M., additional, Else, Tobias, additional, Knijnenburg, Theo A., additional, Ciriello, Giovanni, additional, Kim, Seungchan, additional, Assie, Guillaume, additional, Morozova, Olena, additional, Akbani, Rehan, additional, Shih, Juliann, additional, Hoadley, Katherine A., additional, Choueiri, Toni K., additional, Waldmann, Jens, additional, Mete, Ozgur, additional, Robertson, A. Gordon, additional, Wu, Hsin-Ta, additional, Raphael, Benjamin J., additional, Shao, Lina, additional, Meyerson, Matthew, additional, Demeure, Michael J., additional, Beuschlein, Felix, additional, Gill, Anthony J., additional, Sidhu, Stan B., additional, Almeida, Madson Q., additional, Fragoso, Maria C.B.V., additional, Cope, Leslie M., additional, Kebebew, Electron, additional, Habra, Mouhammed A., additional, Whitsett, Timothy G., additional, Bussey, Kimberly J., additional, Rainey, William E., additional, Asa, Sylvia L., additional, Bertherat, Jérôme, additional, Fassnacht, Martin, additional, Wheeler, David A., additional, Hammer, Gary D., additional, Giordano, Thomas J., additional, Verhaak, Roel G.W., additional, Zheng, Siyuan, additional, Assié, Guillaume, additional, Wu, Hsin-Tu, additional, Almeida, Madson, additional, Barisson Fragoso, Maria Candida, additional, Habra, Mouhammed Amir, additional, Benz, Christopher, additional, Ally, Adrian, additional, Balasundaram, Miruna, additional, Bowlby, Reanne, additional, Brooks, Denise, additional, Butterfield, Yaron S.N., additional, Carlsen, Rebecca, additional, Dhalla, Noreen, additional, Guin, Ranabir, additional, Holt, Robert A., additional, Jones, Steven J.M., additional, Kasaian, Katayoon, additional, Lee, Darlene, additional, Li, Haiyan I., additional, Lim, Lynette, additional, Ma, Yussanne, additional, Marra, Marco A., additional, Mayo, Michael, additional, Moore, Richard A., additional, Mungall, Andrew J., additional, Mungall, Karen, additional, Sadeghi, Sara, additional, Schein, Jacqueline E., additional, Sipahimalani, Payal, additional, Tam, Angela, additional, Thiessen, Nina, additional, Park, Peter J., additional, Kroiss, Matthias, additional, Gao, Jianjiong, additional, Sander, Chris, additional, Schultz, Nikolaus, additional, Jones, Corbin D., additional, Kucherlapati, Raju, additional, Mieczkowski, Piotr A., additional, Parker, Joel S., additional, Perou, Charles M., additional, Tan, Donghui, additional, Veluvolu, Umadevi, additional, Wilkerson, Matthew D., additional, Hayes, D. Neil, additional, Ladanyi, Marc, additional, Quinkler, Marcus, additional, Auman, J. Todd, additional, Latronico, Ana Claudia, additional, Mendonca, Berenice B., additional, Sibony, Mathilde, additional, Sanborn, Zack, additional, Bellair, Michelle, additional, Buhay, Christian, additional, Covington, Kyle, additional, Dahdouli, Mahmoud, additional, Dinh, Huyen, additional, Doddapaneni, Harsha, additional, Downs, Brittany, additional, Drummond, Jennifer, additional, Gibbs, Richard, additional, Hale, Walker, additional, Han, Yi, additional, Hawes, Alicia, additional, Hu, Jianhong, additional, Kakkar, Nipun, additional, Kalra, Divya, additional, Khan, Ziad, additional, Kovar, Christine, additional, Lee, Sandy, additional, Lewis, Lora, additional, Morgan, Margaret, additional, Morton, Donna, additional, Muzny, Donna, additional, Santibanez, Jireh, additional, Xi, Liu, additional, Dousset, Bertrand, additional, Groussin, Lionel, additional, Libé, Rossella, additional, Chin, Lynda, additional, Reynolds, Sheila, additional, Shmulevich, Ilya, additional, Chudamani, Sudha, additional, Liu, Jia, additional, Lolla, Laxmi, additional, Wu, Ye, additional, Yeh, Jen Jen, additional, Balu, Saianand, additional, Bodenheimer, Tom, additional, Hoyle, Alan P., additional, Jefferys, Stuart R., additional, Meng, Shaowu, additional, Mose, Lisle E., additional, Shi, Yan, additional, Simons, Janae V., additional, Soloway, Matthew G., additional, Wu, Junyuan, additional, Zhang, Wei, additional, Mills Shaw, Kenna R., additional, Demchok, John A., additional, Felau, Ina, additional, Sheth, Margi, additional, Tarnuzzer, Roy, additional, Wang, Zhining, additional, Yang, Liming, additional, Zenklusen, Jean C., additional, Zhang, Jiashan (Julia), additional, Davidsen, Tanja, additional, Crawford, Catherine, additional, Hutter, Carolyn M., additional, Sofia, Heidi J., additional, Roach, Jeffrey, additional, Bshara, Wiam, additional, Gaudioso, Carmelo, additional, Morrison, Carl, additional, Soon, Patsy, additional, Alonso, Shelley, additional, Baboud, Julien, additional, Pihl, Todd, additional, Raman, Rohini, additional, Sun, Qiang, additional, Wan, Yunhu, additional, Naresh, Rashi, additional, Arachchi, Harindra, additional, Beroukhim, Rameen, additional, Carter, Scott L., additional, Cho, Juok, additional, Frazer, Scott, additional, Gabriel, Stacey B., additional, Getz, Gad, additional, Heiman, David I., additional, Kim, Jaegil, additional, Lawrence, Michael S., additional, Lin, Pei, additional, Noble, Michael S., additional, Saksena, Gordon, additional, Schumacher, Steven E., additional, Sougnez, Carrie, additional, Voet, Doug, additional, Zhang, Hailei, additional, Bowen, Jay, additional, Coppens, Sara, additional, Gastier-Foster, Julie M., additional, Gerken, Mark, additional, Helsel, Carmen, additional, Leraas, Kristen M., additional, Lichtenberg, Tara M., additional, Ramirez, Nilsa C., additional, Wise, Lisa, additional, Zmuda, Erik, additional, Baylin, Stephen, additional, Herman, James G., additional, LoBello, Janine, additional, Watanabe, Aprill, additional, Haussler, David, additional, Radenbaugh, Amie, additional, Rao, Arjun, additional, Zhu, Jingchun, additional, Bartsch, Detlef K., additional, Sbiera, Silviu, additional, Allolio, Bruno, additional, Deutschbein, Timo, additional, Ronchi, Cristina, additional, Raymond, Victoria M., additional, Vinco, Michelle, additional, Amble, Linda, additional, Bootwalla, Moiz S., additional, Lai, Phillip H., additional, Van Den Berg, David J., additional, Weisenberger, Daniel J., additional, Robinson, Bruce, additional, Ju, Zhenlin, additional, Kim, Hoon, additional, Ling, Shiyun, additional, Liu, Wenbin, additional, Lu, Yiling, additional, Mills, Gordon B., additional, Sircar, Kanishka, additional, Wang, Qianghu, additional, Yoshihara, Kosuke, additional, Laird, Peter W., additional, Fan, Yu, additional, Wang, Wenyi, additional, Shinbrot, Eve, additional, Reincke, Martin, additional, Weinstein, John N., additional, Meier, Sam, additional, and Defreitas, Timothy, additional

Published
2016
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42. Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study.

Author

Hescot, Segolene, Curras-Freixes, Maria, Deutschbein, Timo, van Berkel, Anouk, Vezzosi, Delphine, Amar, Laurence, de la Fouchardière, Christelle, Valdes, Nuria, Riccardi, Fernando, Do Cao, Christine, Bertherat, Jerome, Goichot, Bernard, Beuschlein, Felix, Drui, Delphine, Canu, Letizia, Niccoli, Patricia, Laboureau, Sandrine, Tabarin, Antoine, Leboulleux, Sophie, Calsina, Bruna, Libé, Rossella, Faggiano, Antongiulio, Schlumberger, Martin, Borson-Chazot, Francoise, Mannelli, Massimo, Gimenez-Roqueplo, Anne-Paule, Caron, Philippe, Timmers, Henri J L M, Fassnacht, Martin, Robledo, Mercedes, Borget, Isabelle, and Baudin, Eric

Abstract

Malignant pheochromocytoma and paraganglioma (MPP) are characterized by prognostic heterogeneity. Our objective was to look for prognostic parameters of overall survival (OS) in MPP patients.

Published
2019
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43. Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.

Author

Buffet, Alexandre, Ben Aim, Laurène, Leboulleux, Sophie, Drui, Delphine, Vezzosi, Delphine, Libé, Rossella, Ajzenberg, Christiane, Bernardeschi, Daniele, Cariou, Bertrand, Chabolle, Frédéric, Chabre, Olivier, Darrouzet, Vincent, Delemer, Brigitte, Desailloud, Rachel, Goichot, Bernard, Esvant, Annabelle, Offredo, Lucile, Herman, Philippe, Laboureau, Sandrine, Lefebvre, Hervé, Pierre, Peggy, Raingeard, Isabelle, Reznik, Yves, Sadoul, Jean-Louis, Hadoux, Julien, Tabarin, Antoine, Tauveron, Igor, Zenaty, Delphine, Favier, Judith, Bertherat, Jérôme, Baudin, Eric, Amar, Laurence, and Gimenez-Roqueplo, Anne-Paule

Abstract

Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic screening be proposed to all patients with PPGL.

Published
2019
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45. Primary Aldosteronism andARMC5Variants

Author

Zilbermint, Mihail, primary, Xekouki, Paraskevi, additional, Faucz, Fabio R., additional, Berthon, Annabel, additional, Gkourogianni, Alexandra, additional, Schernthaner-Reiter, Marie Helene, additional, Batsis, Maria, additional, Sinaii, Ninet, additional, Quezado, Martha M., additional, Merino, Maria, additional, Hodes, Aaron, additional, Abraham, Smita B., additional, Libé, Rossella, additional, Assié, Guillaume, additional, Espiard, Stéphanie, additional, Drougat, Ludivine, additional, Ragazzon, Bruno, additional, Davis, Adam, additional, Gebreab, Samson Y., additional, Neff, Ryan, additional, Kebebew, Electron, additional, Bertherat, Jérôme, additional, Lodish, Maya B., additional, and Stratakis, Constantine A., additional

Published
2015
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46. ARMC5Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

Author

Espiard, Stéphanie, primary, Drougat, Ludivine, additional, Libé, Rossella, additional, Assié, Guillaume, additional, Perlemoine, Karine, additional, Guignat, Laurence, additional, Barrande, Gaelle, additional, Brucker-Davis, Françoise, additional, Doullay, Françoise, additional, Lopez, Stephanie, additional, Sonnet, Emmanuel, additional, Torremocha, Florence, additional, Pinsard, Denis, additional, Chabbert-Buffet, Nathalie, additional, Raffin-Sanson, Marie-Laure, additional, Groussin, Lionel, additional, Borson-Chazot, Françoise, additional, Coste, Joël, additional, Bertagna, Xavier, additional, Stratakis, Constantine A., additional, Beuschlein, Felix, additional, Ragazzon, Bruno, additional, and Bertherat, Jérôme, additional

Published
2015
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47. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

Author

Castro-Vega, Luis Jaime, primary, Letouzé, Eric, additional, Burnichon, Nelly, additional, Buffet, Alexandre, additional, Disderot, Pierre-Hélie, additional, Khalifa, Emmanuel, additional, Loriot, Céline, additional, Elarouci, Nabila, additional, Morin, Aurélie, additional, Menara, Mélanie, additional, Lepoutre-Lussey, Charlotte, additional, Badoual, Cécile, additional, Sibony, Mathilde, additional, Dousset, Bertrand, additional, Libé, Rossella, additional, Zinzindohoue, Franck, additional, Plouin, Pierre François, additional, Bertherat, Jérôme, additional, Amar, Laurence, additional, de Reyniès, Aurélien, additional, Favier, Judith, additional, and Gimenez-Roqueplo, Anne-Paule, additional

Published
2015
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48. Abstract 2239: Macronodular adrenal hyperplasia due to mutations in ARMC5: New mutations in humans and modeling in zebrafish

Author

Faucz, Fabio R., primary, Zilbermint, Mihail, additional, Assié, Guillaume, additional, Lodish, Maya B., additional, Szarek, Eva, additional, Trivellin, Giampaolo, additional, Berthon, Annabel, additional, Sinaii, Ninet, additional, Libé, Rossella, additional, Espiard, Stéphanie, additional, Drougat, Ludivine, additional, Ragazzon, Bruno, additional, Feldman, Benjamin, additional, Bertherat, Jerome, additional, and Stratakis, Constantine A., additional

Published
2014
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49. Imaging Work-Up for Screening of Paraganglioma and Pheochromocytoma inSDHxMutation Carriers: A Multicenter Prospective Study from the PGL.EVA Investigators

Author

Gimenez-Roqueplo, Anne-Paule, primary, Caumont-Prim, Aurore, additional, Houzard, Claire, additional, Hignette, Chantal, additional, Hernigou, Anne, additional, Halimi, Philippe, additional, Niccoli, Patricia, additional, Leboulleux, Sophie, additional, Amar, Laurence, additional, Borson-Chazot, Françoise, additional, Cardot-Bauters, Catherine, additional, Delemer, Brigitte, additional, Chabolle, Frédéric, additional, Coupier, Isabelle, additional, Libé, Rossella, additional, Peitzsch, Mirko, additional, Peyrard, Séverine, additional, Tenenbaum, Florence, additional, Plouin, Pierre-François, additional, Chatellier, Gilles, additional, and Rohmer, Vincent, additional

Published
2013
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50. β-Catenin Activation Is Associated with Specific Clinical and Pathologic Characteristics and a Poor Outcome in Adrenocortical Carcinoma

Author

Gaujoux, Sébastien, primary, Grabar, Sophie, additional, Fassnacht, Martin, additional, Ragazzon, Bruno, additional, Launay, Pierre, additional, Libé, Rossella, additional, Chokri, Ilham, additional, Audebourg, Anne, additional, Royer, Benedict, additional, Sbiera, Silviu, additional, Vacher-Lavenu, Marie-Cécile, additional, Dousset, Bertrand, additional, Bertagna, Xavier, additional, Allolio, Bruno, additional, Bertherat, Jérôme, additional, and Tissier, Frédérique, additional

Published
2011
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