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Jerome Bertherat
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Journal Articles

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas

Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, Florence Habarou, Charlotte Lussey-Lepoutre, Eric Letouzé, Hervé Lefebvre, Isabelle Guilhem, Magalie Haissaguerre, Isabelle Raingeard, Mathilde Padilla-Girola, Thi Tran, Lucien Tchara, Jérôme Bertherat, Laurence Amar, Chris Ottolenghi, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Judith Favier
Journal: Cancer Research
Cancer Res (2018) 78 (8): 1914–1922.
https://doi.org/10.1158/0008-5472.CAN-17-2463
Published: 12 April 2018
View article titled, Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <em>SLC25A11</em> Gene Confer a Predisposition to Metastatic Paragangliomas
Open the PDF for Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <em>SLC25A11</em> Gene Confer a Predisposition to Metastatic Paragangliomas in another window
Includes: Supplementary data
Journal Articles

Abstract 2976: Comprehensive Pan-Genomic characterization of adrenocortical carcinoma

Siyuan Zheng, Andrew D. Cherniack, Ninad Dewal, Richard A. Moffitt, Ludmila Danilova, Bradley A. Murray, Antonio M. Lerario, Tobias Else, Theo A. Knijnenburg, Giovanni Ciriello, Seungchan Kim, Guillaume Assie, Olena Morozova, Rehan Akbani, Juliann Shih, Katherine A. Hoadley, Toni K. Choueiri, Jens Waldmann, Ozgur Mete, Gordon A. Robertson, Matthew Meyerson, Michael J. Demeure, Felix Beuschlein, Anthony Gill, Ana C. Latronico, Maria C. Fragosa, Leslie Cope, Electron Kebebew, Mouhammed A. Habra, Timothy G. Whitsett, Kimberly J. Bussey, William E. Rainey, Sylvia Asa, Jérôme Bertherat, Martin Fassnacht, David A. Wheeler, The Cancer Genome Atlas Research Network, Gary D. Hammer, Thomas J. Giordano, Roel Verhaak
Journal: Cancer Research
Cancer Res (2015) 75 (15_Supplement): 2976.
https://doi.org/10.1158/1538-7445.AM2015-2976
Published: 01 August 2015
View article titled, Abstract 2976: Comprehensive Pan-Genomic characterization of adrenocortical carcinoma
Journal Articles

Abstract LB-182: Constitutive activation of PRKACA in adrenal Cushing's syndrome

Fabio R. Faucz, Felix Beuschlei, Martin Fassnacht, Guilaume Assie, Davide Calebiro, Constantine Stratakis, Andrea Osswald, Cristina L. Ronchi, Thomas Wieland, Silviu Sbiera, Katrin Schaak, Anett Schmittfull, Thomas Schwarzmayr, Olivia Barreau, Delphine Vezzosi, Marthe Rizk-Rabbin, Ulrike Zabel, Eva Szarek, Paraskevi Salpea, Antonella Forlino, Annalisa Vetro, Orsetta Zuffardi, Caroline Kisker, Susanne Diener, Thomas Meitinger, Martin J. Lohse, Martin Reincke, Jerome Bertherat, Tim M. Strom, Bruno Allolio
Journal: Cancer Research
Cancer Res (2014) 74 (19_Supplement): LB-182.
https://doi.org/10.1158/1538-7445.AM2014-LB-182
Published: 01 October 2014
View article titled, Abstract LB-182: Constitutive activation of PRKACA in adrenal Cushing's syndrome
Journal Articles

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

Fabio R. Faucz, Mihail Zilbermint, Guillaume Assié, Maya B. Lodish, Eva Szarek, Giampaolo Trivellin, Annabel Berthon, Ninet Sinaii, Rossella Libé, Stéphanie Espiard, Ludivine Drougat, Bruno Ragazzon, Benjamin Feldman, Jerome Bertherat, Constantine A. Stratakis
Journal: Cancer Research
Cancer Res (2014) 74 (19_Supplement): 2239.
https://doi.org/10.1158/1538-7445.AM2014-2239
Published: 01 October 2014
View article titled, Abstract 2239: Macronodular adrenal hyperplasia due to mutations in ARMC5: New mutations in humans and modeling in zebrafish
Journal Articles

Transcriptome Analysis Reveals that p53 and β-Catenin Alterations Occur in a Group of Aggressive Adrenocortical Cancers

Bruno Ragazzon, Rossella Libé, Sébastien Gaujoux, Guillaume Assié, Amato Fratticci, Pierre Launay, Eric Clauser, Xavier Bertagna, Frédérique Tissier, Aurélien de Reyniès, Jérôme Bertherat
Journal: Cancer Research
Cancer Res (2010) 70 (21): 8276–8281.
https://doi.org/10.1158/0008-5472.CAN-10-2014
Published: 31 October 2010
View article titled, Transcriptome Analysis Reveals that p53 and β-Catenin Alterations Occur in a Group of Aggressive Adrenocortical Cancers
Open the PDF for Transcriptome Analysis Reveals that p53 and β-Catenin Alterations Occur in a Group of Aggressive Adrenocortical Cancers in another window
Includes: Supplementary data
Journal Articles

Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors

Anelia Horvath, Larissa Korde, Mark H. Greene, Rossella Libe, Paulo Osorio, Fabio Rueda Faucz, Marie Laure Raffin-Sanson, Kit Man Tsang, Limor Drori-Herishanu, Yianna Patronas, Elaine F. Remmers, Maria Eleni Nikita, Jason Moran, Joseph Greene, Maria Nesterova, Maria Merino, Jerome Bertherat, Constantine A. Stratakis
Journal: Cancer Research
Cancer Res (2009) 69 (13): 5301–5306.
https://doi.org/10.1158/0008-5472.CAN-09-0884
Published: 01 July 2009
View article titled, Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Open the PDF for Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors in another window
Includes: Supplementary data
Journal Articles

Molecular and Functional Analysis of PRKAR1A and its Locus (17q22–24) in Sporadic Adrenocortical Tumors: 17q Losses, Somatic Mutations, and Protein Kinase A Expression and Activity

Jerome Bertherat, Lionel Groussin, Fabiano Sandrini, Ludmila Matyakhina, Thalia Bei, Sotirios Stergiopoulos, Theocharis Papageorgiou, Isabelle Bourdeau, Lawrence S. Kirschner, Caroline Vincent-Dejean, Karine Perlemoine, Christine Gicquel, Xavier Bertagna, Constantine A. Stratakis
Journal: Cancer Research
Cancer Res (2003) 63 (17): 5308–5319.
Published: 18 September 2003
View article titled, Molecular and Functional Analysis of <em>PRKAR1A</em> and its Locus (17q22–24) in Sporadic Adrenocortical Tumors: <subtitle>17q Losses, Somatic Mutations, and Protein Kinase A Expression and Activity</subtitle>
Open the PDF for Molecular and Functional Analysis of <em>PRKAR1A</em> and its Locus (17q22–24) in Sporadic Adrenocortical Tumors: <subtitle>17q Losses, Somatic Mutations, and Protein Kinase A Expression and Activity</subtitle> in another window