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1

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

Ali, Salma R., Bryce, Jillian, Tan, Li En, Hiort, Olaf, Pereira, Alberto M., van den Akker, Erica L. T., Appelman-Dijkstra, Natasha M., Bertherat, Jerome, Cools, Martine, Dekkers, Olaf M., Kodra, Yllk

Journal:

International Journal of Environmental Research and Public Health

Year:

2020

File:

PDF, 1.49 MB

2020

2

Heterogeneity of skin manifestations in patients with Carney complex

Christine Mateus, André Palangié, Nathalie Franck, Lionel Groussin, Xavier Bertagna, Marie-Françoise Avril, Jérôme Bertherat, Nicolas Dupin

Journal:

Journal of the American Academy of Dermatology

Year:

2008

Language:

english

File:

PDF, 316 KB

english, 2008

3

Changes in the management and comorbidities of acromegaly over three decades: the French Acromegaly Registry

Maione, Luigi, Brue, Thierry, Beckers, Albert, Delemer, Brigitte, Petrossians, Patrick, Borson-Chazot, Françoise, Chabre, Olivier, François, Patrick, Bertherat, Jérôme, Cortet-Rudelli, Christine, Chan

Journal:

European Journal of Endocrinology

Year:

2017

Language:

english

File:

PDF, 1.18 MB

english, 2017

4

Health-related quality of life of patients with hypothalamic-pituitary-adrenal axis dysregulations. A cohort study.

De Bucy, Charlotte, Guignat, Laurence, Niati, Tanya, Bertherat, Jerome, Coste, Joel

Journal:

European Journal of Endocrinology

Year:

2017

Language:

english

File:

PDF, 1007 KB

english, 2017

5

Group 1. Epidemiology of primary and secondary adrenal insufficiency: Prevalence and incidence, acute adrenal insufficiency, long-term morbidity and mortality

Chabre, Olivier, Goichot, Bernard, Zenaty, Delphine, Bertherat, Jérôme

Journal:

Annales d'Endocrinologie

Year:

2017

File:

PDF, 586 KB

2017

6

Carney complex (CNC)

Jérôme Bertherat

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 467 KB

english, 2006

7

Pasireotide can induce sustained decreases in urinary cortisol and provide clinical benefit in patients with Cushing’s disease: results from an open-ended, open-label extension trial

Schopohl, Jochen, Gu, Feng, Rubens, Robert, Van Gaal, Luc, Bertherat, Jérôme, Ligueros-Saylan, Monica, Trovato, Andrew, Hughes, Gareth, Salgado, Luiz R., Boscaro, Marco, Pivonello, Rosario

Journal:

Year:

2015

Language:

english

File:

PDF, 656 KB

english, 2015

8

The Ectopic Expression of the Gastric Inhibitory Polypeptide Receptor Is Frequent in Adrenocorticotropin-Independent Bilateral Macronodular Adrenal Hyperplasia, but Rare in Unilateral Tumors

Groussin, Lionel, Perlemoine, Karine, Contesse, Vincent, Lefebvre, Hervé, Tabarin, Antoine, Thieblot, Philippe, Schlienger, Jean Louis, Luton, Jean Pierre, Bertagna, Xavier, Bertherat, Jérôme

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

9

Loss of Heterozygosity of 17p13, With Possible Involvement of ACADVL and ALOX15B, in the Pathogenesis of Adrenocortical Tumors

Soon, Patsy S. H., Libe, Rossella, Benn, Diana E., Gill, Anthony, Shaw, Janet, Sywak, Mark S., Groussin, Lionel, Bertagna, Xavier, Gicquel, Christine, Bertherat, Jerome, McDonald, Kerrie L., Sidhu, St

Journal:

Annals of Surgery

Year:

2008

Language:

english

File:

PDF, 1.05 MB

english, 2008

10

Dosage-dependent regulation of VAV2 expression by steroidogenic factor-1 drives adrenocortical carcinoma cell invasion

Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Sbiera, Silviu, Sbiera, Iuliu, Parsons, Maddy, Ragazzon, Bruno, Morin, Aurélie, Robidel, Estelle, Favier, Judith, Bertherat, Jérôme, Fassnacht, Martin, L

Journal:

Science Signaling

Year:

2017

Language:

english

File:

PDF, 1.56 MB

english, 2017

11

68Ga-DOTATOC PET/CT in detecting neuroendocrine tumours responsible for initial or recurrent paraneoplastic Cushing’s syndrome

Bélissant Benesty, Ophélie, Nataf, Valérie, Ohnona, Jessica, Michaud, Laure, Zhang-Yin, Jules, Bertherat, Jérôme, Chanson, Philippe, Reznik, Yves, Talbot, Jean-Noël, Montravers, Françoise

Journal:

Endocrine (Springer)

Year:

2019

Language:

english

File:

PDF, 808 KB

english, 2019

12

Pathogenesis of benign adrenocortical tumors

Delphine Vezzosi, Jérôme Bertherat, Lionel Groussin

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 690 KB

english, 2010

13

Adénome corticotrope

Laurence Guignat, Guillaume Assie, Xavier Bertagna, Jérôme Bertherat

Journal:

La Presse Médicale

Year:

2009

Language:

french

File:

PDF, 487 KB

french, 2009

14

PTHrP P3 promoter activity in breast cancer cell lines: Role of Ets1 and CBP (CREB binding protein)

Hinda Hamzaoui, Marthe Rizk-Rabin, Jonthan Gordon, Carlos Offutt, Jérôme Bertherat, Zhor Bouizar

Journal:

Molecular and Cellular Endocrinology

Year:

2007

Language:

english

File:

PDF, 702 KB

english, 2007

15

PATHOGENESIS OF ADRENOCORTICAL INCIDENTALOMAS AND GENETIC SYNDROMES ASSOCIATED WITH ADRENOCORTICAL NEOPLASMS

Gicquel, Christine, Bertherat, Jerome, Le Bouc, Yves, Bertagna, Xavier

Journal:

Endocrinology and Metabolism Clinics of North America

Year:

2000

Language:

english

File:

PDF, 887 KB

english, 2000

16

Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes

Benn, Diana E., Gimenez-Roqueplo, Anne-Paule, Reilly, Jennifer R., Bertherat, Jérôme, Burgess, John, Byth, Karen, Croxson, Michael, Dahia, Patricia L. M., Elston, Marianne, Gimm, Oliver, Henley, David

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 314 KB

english, 2006

17

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Catherine Dodé, Corinne Fouveaut, Geert Mortier, Sandra Janssens, Jérôme Bertherat, Jacques Mahoudeau, Marie-Laure Kottler, Christine Chabrolle, Antoine Gancel, Inge François, Koen Devriendt, Slawomir

Journal:

Year:

2007

Language:

english

File:

PDF, 84 KB

english, 2007

18

PDE 2015: cAMP Signaling, Protein Kinase A (PKA) and Phosphodiesterases (PDEs): How Genetics Changed the Way We Look at One of the Most Studied Signaling Pathways

Stratakis, Constantine, Kelestimur, Fahrettin, Bertherat, Jérôme

Journal:

Hormone and Metabolic Research

Year:

2017

Language:

english

File:

PDF, 190 KB

english, 2017

19

Éditorial

Bertherat, Jérôme, Brue, Thierry, Chanson, Philippe

Journal:

Annales d'Endocrinologie

Year:

2005

Language:

french

File:

PDF, 25 KB

french, 2005

20

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat, Ludivine, Espiard, Stéphanie, Bertherat, Jerôme

Journal:

European Journal of Endocrinology

Year:

2015

Language:

english

File:

PDF, 398 KB

english, 2015

21

Isocitrate Dehydrogenase Mutations Are Rare in Pheochromocytomas and Paragangliomas

Gaal, José, Burnichon, Nelly, Korpershoek, Esther, Roncelin, Isabelle, Bertherat, Jérôme, Plouin, Pierre-François, de Krijger, Ronald R., Gimenez-Roqueplo, Anne-Paule, Dinjens, Winand N. M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

22

Corticosurrénalome et grossesse

Raffin-Sanson, Marie-Laure, Abiven, Gwenaelle, Ritzel, Katrin, de Corbière, Pauline, Cazabat, Laure, Zaharia, Ramona, Groussin, Lionel, Libe, Rossella, Bertherat, Jérôme, Fassnacht, Martin, Bertagna,

Journal:

Annales d'Endocrinologie

Year:

2016

File:

PDF, 899 KB

2016

23

Hyperestrogénie chez un patient présentant un complexe de Carney avec tumeurs testiculaires multiples

Jrad, Grace, Bricaire, Léopoldine, Bertherat, Jérôme

Journal:

Annales d'Endocrinologie

Year:

2014

File:

PDF, 208 KB

2014

24

cAMP PATHWAY ALTERATIONS FROM THE CELL SURFACE TO THE NUCLEUS IN ADRENOCORTICAL TUMORS

Rosenberg, Dan, Groussin, Lionel, Bertagna, Xavier, Bertherat, Jérôme

Journal:

Endocrine Research

Year:

2002

Language:

english

File:

PDF, 344 KB

english, 2002

25

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1

Couturier, Aude, Saugier-Veber, Pascale, Carel, Jean-Claude, Bertherat, Jérôme, Brézin, Antoine P.

Journal:

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

26

Time Until Partial Response in Metastatic Adrenocortical Carcinoma Long-Term Survivors

Vezzosi, Delphine, Do Cao, Christine, Hescot, Ségolène, Bertherat, Jérôme, Haissaguerre, Magali, Bongard, Vanina, Drui, Delphine, De La Fouchardière, Christelle, Illouz, Frédéric, Borson-Chazot, Franç

Journal:

Hormones and Cancer

Year:

2017

File:

PDF, 842 KB

2017

27

Genetics of tumors of the adrenal cortex

Bonnet-Serrano, Fidéline, Bertherat, Jerome

Journal:

Endocrine Related Cancer

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

28

Systematic Analysis of G Protein-Coupled Receptor Gene Expression in Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia Identifies Novel Targets for Pharmacological Control of Adrenal Cushing’s Syndrome

Assie, Guillaume, Louiset, Estelle, Sturm, Nathalie, Rénée-Corail, Fernande, Groussin, Lionel, Bertherat, Jerôme, Thomas, Michaël, Lefebvre, Hervé, Feige, Jean-Jacques, Clauser, Eric, Chabre, Olivier,

Journal:

Endocrine Reviews

Year:

2010

Language:

english

File:

PDF, 61 KB

english, 2010

29

Preoperative risk factors of hemodynamic instability during laparoscopic adrenalectomy for pheochromocytoma

Gaujoux, Sébastien, Bonnet, Stéphane, Lentschener, Claude, Thillois, Jean-Marc, Duboc, Denis, Bertherat, Jérôme, Samama, Charles Marc, Dousset, Bertrand

Journal:

Surgical Endoscopy

Year:

2016

Language:

english

File:

PDF, 469 KB

english, 2016

30

Role of ACTH in the Interactive/Paracrine Regulation of Adrenal Steroid Secretion in Physiological and Pathophysiological Conditions

Lefebvre, Hervé, Thomas, Michaël, Duparc, Céline, Bertherat, Jérôme, Louiset, Estelle

Journal:

Frontiers in Endocrinology

Year:

2016

Language:

english

File:

PDF, 1.20 MB

english, 2016

31

68Ga-DOTATOC PET/CT in detecting neuroendocrine tumours responsible for initial or recurrent paraneoplastic Cushing’s syndrome

Bélissant Benesty, Ophélie, Nataf, Valérie, Ohnona, Jessica, Michaud, Laure, Zhang-Yin, Jules, Bertherat, Jérôme, Chanson, Philippe, Reznik, Yves, Talbot, Jean-Noël, Montravers, Françoise

Journal:

Endocrine (Springer)

Year:

2019

File:

PDF, 808 KB

2019

32

Alterations of the 11p15 imprinted region and the IGFs system in a case of recurrent non-islet-cell tumour hypoglycaemia (NICTH).

Jérôme Bertherat, Armelle Logié, Christine Gicquel, Florence Mourriéras, Jean Pierre Luton, Yves Le Bouc

Journal:

Clinical Endocrinology

Year:

2000

Language:

english

File:

PDF, 141 KB

english, 2000

33

Laparoscopic Adrenalectomy in Elderly Patients

Weinandt, Marthe, Gaujoux, Sébastien, Khayat, Antoine, Bertherat, Jérôme, Baillard, Christophe, Dousset, Bertrand

Journal:

Surgical Laparoscopy Endoscopy & Percutaneous Techniques

Year:

2017

Language:

english

File:

PDF, 99 KB

english, 2017

34

Phosphodiesterase 11A ( PDE11A ) Genetic Variants May Increase Susceptibility to Prostatic Cancer

Faucz, Fabio Rueda, Horvath, Anelia, Rothenbuhler, Anya, Almeida, Madson Q., LibÃ©, Rossella, Raffin-Sanson, Marie-Laure, Bertherat, Jerome, Carraro, Dirce Maria, Soares, Fernando Augusto, de Campos M

Journal:

Molecular Endocrinology

Year:

2010

Language:

english

File:

PDF, 63 KB

english, 2010

35

Development of Novel Tools for the Diagnosis and Prognosis of Pheochromocytoma Using Peptide Marker Immunoassay and Gene Expression Profiling Approaches

YOUSSEF ANOUAR, LAURENT YON, JOHANN GUILLEMOT, ERWAN THOUENNON, LAURE BARBIER, ANNE-PAULE GIMENEZ-ROQUEPLO, JEROME BERTHERAT, HERVE LEFEBVRE, MARC KLEIN, MIHAELA MURESAN, ERIC GROUZMANN, PIERRE-FRANÇO

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 183 KB

english, 2006

36

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.

Correa, Ricardo, Zilbermint, Mihail, Berthon, Annabel, Espiard, Stephanie, Batsis, Maria, Papadakis, Georgios, Xekouki, Paraskevi, Lodish, Maya B, Bertherat, Jerôme, Faucz, Fabio Rueda, Stratakis, Con

Journal:

European Journal of Endocrinology

Year:

2015

Language:

english

File:

PDF, 1.53 MB

english, 2015

37

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

Rhayem, Yara, Le Stunff, Catherine, Abdel Khalek, Waed, Auzan, Colette, Bertherat, Jerome, Linglart, Agnès, Couvineau, Alain, Silve, Caroline, Clauser, Eric

Journal:

Journal of Biological Chemistry

Year:

2015

Language:

english

File:

PDF, 2.63 MB

english, 2015

38

Genetics of adrenal tumors

Bertherat, Jérôme

Journal:

La Presse Médicale

Year:

2018

Language:

english

File:

PDF, 143 KB

english, 2018

39

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

Chortis, Vasileios, Taylor, Angela E., Schneider, Petra, Tomlinson, Jeremy W., Hughes, Beverly A., O'Neil, Donna M., Libé, Rossella, Allolio, Bruno, Bertagna, Xavier, Bertherat, Jérôme, Beuschlein, Fe

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

40

Reduced Myocardial Contractility Assessed by Tissue Doppler Echocardiography Is Associated with Increased Risk During Adrenal Surgery of Patients with Pheochromocytoma: Report of a Preliminary Study

Meune, Christophe, Bertherat, Jérôme, Dousset, Bertrand, Jude, Nicole, Bertagna, Xavier, Duboc, Denis, Weber, Simon

Journal:

Journal of the American Society of Echocardiography

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

41

Primary Pigmented Nodular Adrenocortical Disease

Carney, J. Aidan, Libé, Rossella, Bertherat, Jérôme, Young, William F.

Journal:

American Journal of Surgical Pathology

Year:

2014

Language:

english

File:

PDF, 939 KB

english, 2014

42

Loss of Expression of the Ubiquitous Transcription Factor cAMP Response Element-Binding Protein (CREB) and Compensatory Overexpression of the Activator CREMτ in the Human Adrenocortical Cancer Cell Line H295R 1

Groussin, Lionel, Massias, Jean Francis, Bertagna, Xavier, Bertherat, Jérôme

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 3.11 MB

english, 2000

43

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

Anélia Horvath, Jérôme Bertherat, Lionel Groussin, Marine Guillaud-Bataille, Kitman Tsang, Laure Cazabat, Rosella Libé, Elaine Remmers, Fernande René-Corail, Fabio Rueda Faucz, Eric Clauser, Alain Cal

Journal:

Year:

2010

Language:

english

File:

PDF, 310 KB

english, 2010

44

Pathologie thyroïdienne auto-immune

Lionel Groussin, Jérôme Bertherat

Journal:

Revue Francophone des Laboratoires

Year:

2007

File:

PDF, 2.64 MB

2007

45

Mutations associated with succinate dehydrogenase d-related malignant paragangliomas

Henri J. L. M. Timmers, Karel Pacak, Jérôme Bertherat, Jacques W. M. Lenders, Michèle Duet, Graeme Eisenhofer, Constantine A. Stratakis, Patricia Niccoli-Sire, Patrice Tran Ba Huy, Nelly Burnichon, An

Journal:

Clinical Endocrinology

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

46

Mechanisms of Disease: adrenocortical tumors—molecular advances and clinical perspectives

Bertherat, Jérôme, Groussin, Lionel, Bertagna, Xavier

Journal:

Nature Clinical Practice Endocrinology and Metabolism

Year:

2006

Language:

english

File:

PDF, 287 KB

english, 2006

47

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

Burnichon, Nelly, Mazzella, Jean-Michaël, Drui, Delphine, Amar, Laurence, Bertherat, Jérôme, Coupier, Isabelle, Delemer, Brigitte, Guilhem, Isabelle, Herman, Philippe, Kerlan, Véronique, Tabarin, Anto

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.64 MB

english, 2017

48

Cushing's disease

Xavier Bertagna, Laurence Guignat, Lionel Groussin, Jérôme Bertherat

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 486 KB

english, 2009

49

The Great Imitator in Endocrinology: A Painful Hypophysitis Mimicking a Pituitary Tumor

Bricaire, Léopoldine, Haecke, Clélia Van, Laurent-Roussel, Sara, Jrad, Grace, Bertherat, Jérôme, Bernier, Michèle, Gaillard, Stephan, Groussin, Lionel, Dupin, Nicolas

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 669 KB

english, 2015

50

Succinate Dehydrogenase B Gene Mutations Predict Survival in Patients with Malignant Pheochromocytomas or Paragangliomas

Amar, Laurence, Baudin, Eric, Burnichon, Nelly, Peyrard, Séverine, Silvera, Stéphane, Bertherat, Jérôme, Bertagna, Xavier, Schlumberger, Martin, Jeunemaitre, Xavier, Gimenez-Roqueplo, Anne-Paule, Plou

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

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