Jerome Bertherat

Jerome Bertherat

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Jerome Bertherat

Publications by authors named "Jerome Bertherat"

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Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation.

Endocr Relat Cancer 2020 Feb 1. Epub 2020 Feb 1.

B Ragazzon, Departement Endocrinologie, métabolisme, diabète, Institut Cochin - INSERM U1060 - CNRS - Université Paris Descartes, Paris, 75014 , France.

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http://dx.doi.org/10.1530/ERC-19-0502DOI Listing
February 2020

Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells.

Mol Cell Endocrinol 2020 Jan 31;500:110636. Epub 2019 Oct 31.

Institut Cochin, U1016, CNRS (UMR 8104), Université Paris Descartes, Paris, France; Hôpital Cochin, Department of Endocrinology. Center for Rare Adrenal Diseases, Paris, France.

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http://dx.doi.org/10.1016/j.mce.2019.110636DOI Listing
January 2020

Pangenomic Classification of Pituitary Neuroendocrine Tumors.

Cancer Cell 2020 Jan 26;37(1):123-134.e5. Epub 2019 Dec 26.

INSERM U1016, Institut Cochin, 75014 Paris, France; CNRS UMR 8104, 75014 Paris, France; Université Paris Descartes-Université de Paris, 75006 Paris, France; Department of Endocrinology, Center for Rare Adrenal Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, 75014 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2019.11.002DOI Listing
January 2020

Surgical management of pancreatic neuroendocrine tumors: an introduction.

Expert Rev Anticancer Ther 2019 Dec 17;19(12):1089-1100. Epub 2019 Dec 17.

Department of Digestive, Hepato-biliary and Endocrine Surgery, Cochin Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1080/14737140.2019.1703677DOI Listing
December 2019

Pre- and intraoperative diagnostic requirements, benefits and risks of minimally invasive and robotic surgery for neuroendocrine tumors of the pancreas.

Best Pract Res Clin Endocrinol Metab 2019 10 10;33(5):101294. Epub 2019 Jul 10.

Department of Digestive, Hepato-biliary and Endocrine Surgery, Referral Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris, France; Faculté de Médecine Paris Descartes, Université Paris Descartes, Sorbonne Paris Cité, France. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2019.101294DOI Listing
October 2019

Diseases Predisposing to Adrenocortical Malignancy (Li-Fraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex).

Exp Suppl 2019 ;111:149-169

Endocrinology Department, Cochin Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1007/978-3-030-25905-1_9DOI Listing
October 2019

Hormonal and spatial control of SUMOylation in the human and mouse adrenal cortex.

FASEB J 2019 Sep 17;33(9):10218-10230. Epub 2019 Jun 17.

Génétique Reproduction and Dévelopement (GReD), Centre National de la Recherche Scientifique (CNRS), INSERM, Université Clermont-Auvergne, Clermont-Ferrand, France.

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http://dx.doi.org/10.1096/fj.201900557RDOI Listing
September 2019

Long-Term Outcome of Primary Bilateral Macronodular Adrenocortical Hyperplasia After Unilateral Adrenalectomy.

J Clin Endocrinol Metab 2019 Jul;104(7):2985-2993

Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, München, Germany.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-02204DOI Listing
July 2019

Pharmacokinetic interaction between mitotane and etoposide in adrenal carcinoma: a pilot study.

Endocr Connect 2018 Dec;7(12):1409-1414

Pharmacokinetics and Pharmacochemistry Unit, Cochin Hospital, Paris Descartes University, AP-HP, Paris, France.

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http://dx.doi.org/10.1530/EC-18-0428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301193PMC
December 2018

Genetics of adrenal tumors.

Presse Med 2018 Jul - Aug;47(7-8 Pt 2):e107-e108

Université Paris Descartes, hôpital Cochin, centre de référence des maladies rares de la surrénale, service d'endocrinologie, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07554982183032
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http://dx.doi.org/10.1016/j.lpm.2018.08.007DOI Listing
November 2018

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms.

Endocr Relat Cancer 2018 08;25(8):E5-E7

Genomic Medicine InstituteLerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1530/ERC-18-0283DOI Listing
August 2018

Adrenalectomy for incidentaloma: lessons learned from a single-centre series of 274 patients.

ANZ J Surg 2018 May 7;88(5):468-473. Epub 2017 Jul 7.

Department of Digestive, Hepatobiliary and Endocrine Surgery, Referral Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1111/ans.14095DOI Listing
May 2018

Hepatic safety of ketoconazole in Cushing's syndrome: results of a Compassionate Use Programme in France.

Eur J Endocrinol 2018 May 22;178(5):447-458. Epub 2018 Feb 22.

Department of EndocrinologyAix Marseille Universite, CNRS UMR7286, Assistance Publique-Hopitaux de Marseille, La Conception Hospital, Marseille, France.

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http://dx.doi.org/10.1530/EJE-17-0886DOI Listing
May 2018

MANAGEMENT OF ENDOCRINE DISEASE: Adrenocortical carcinoma: differentiating the good from the poor prognosis tumors.

Eur J Endocrinol 2018 May 23;178(5):R215-R230. Epub 2018 Feb 23.

Institut CochinINSERM U1016, CNRS UMR8104, Paris Descartes University, Paris, France

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https://eje.bioscientifica.com/view/journals/eje/178/5/EJE-1
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http://dx.doi.org/10.1530/EJE-18-0027DOI Listing
May 2018

Genetics of tumors of the adrenal cortex.

Endocr Relat Cancer 2018 03 12;25(3):R131-R152. Epub 2017 Dec 12.

Institut CochinINSERM U1016, CNRS UMR8104, Paris Descartes University, Paris, France

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http://dx.doi.org/10.1530/ERC-17-0361DOI Listing
March 2018

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

Ann Endocrinol (Paris) 2018 Feb 12;79(1):1-22. Epub 2018 Jan 12.

Service d'endocrinologie diabétologie pédiatrique, hôpital Robert-Debré, centre de référence des maladies endocriniennes rares de la croissance et du développement, université Paris Diderot, Assistance publique-Hôpitaux de Paris, 48, boulevard Sérurier, 75019 Paris, France.

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http://dx.doi.org/10.1016/j.ando.2017.12.001DOI Listing
February 2018

The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH).

Mol Cell Endocrinol 2018 01 1;460:36-46. Epub 2017 Jul 1.

Laboratory of Hormone and Molecular Genetic LIM/42, University of Sao Paulo, SP, Brazil; Adrenal Unit, Discipline of Endocrinology & Metabolism, University of Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.mce.2017.06.027DOI Listing
January 2018

Laparoscopic Adrenalectomy in Elderly Patients.

Surg Laparosc Endosc Percutan Tech 2017 Dec;27(6):e132-e135

Department of Digestive, Hepato-biliary and Endocrine Surgery, Referral Center for Rare Adrenal Diseases, Cochin Hospital, APHP.

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http://dx.doi.org/10.1097/SLE.0000000000000465DOI Listing
December 2017

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

Ann Endocrinol (Paris) 2017 Dec 27;78(6):490-494. Epub 2017 Nov 27.

Service des maladies endocriniennes et métaboliques, hôpital Cochin, CHU Paris Centre, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.ando.2017.10.010DOI Listing
December 2017

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?

J Mol Diagn 2017 09;19(5):776-787

Institut Cochin, INSERMU1016, Centre National de la Recherche Scientifique UMR_8104, Paris, France; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Reference Center for Rare Adrenal Cancer Network COMETE, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, Paris. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173026
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http://dx.doi.org/10.1016/j.jmoldx.2017.06.005DOI Listing
September 2017

Loss-of-function mutations in the gene are a novel cause of Cushing's disease.

Endocr Relat Cancer 2017 08 22;24(8):379-392. Epub 2017 May 22.

Section on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/ERC-17-0131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510591PMC
August 2017

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

Eur J Endocrinol 2017 Jul 12;177(1):1-8. Epub 2017 Apr 12.

Université Paris DescartesSorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1530/EJE-17-0048DOI Listing
July 2017

Polyendocrinopathy Resulting From Pembrolizumab in a Patient With a Malignant Melanoma.

J Endocr Soc 2017 Jun 28;1(6):646-649. Epub 2017 Apr 28.

Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, 75014 Paris, France.

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http://dx.doi.org/10.1210/js.2017-00170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686573PMC
June 2017

Classic Kaposi Sarcoma: An Exceptional Cause of Adrenal Incidentaloma.

J Endocr Soc 2017 Jun 5;1(6):737-741. Epub 2017 May 5.

Service de Dermatologie, Hôpital Cochin, Assistance publique - Hôpitaux de Paris, Paris 75014, France.

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http://dx.doi.org/10.1210/js.2017-00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686574PMC
June 2017

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.

J Pathol 2017 05 29;242(1):10-15. Epub 2017 Mar 29.

INSERM UMR-S1147, Personalized Medicine, Pharmacogenomics, Therapeutic Optimization, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/path.4880DOI Listing
May 2017

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

Eur J Endocrinol 2017 May 28;176(5):645-655. Epub 2017 Feb 28.

Assistance Publique-Hôpitaux de ParisHôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1530/EJE-16-1064DOI Listing
May 2017

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.

Horm Metab Res 2017 Apr 20;49(4):237-239. Epub 2017 Apr 20.

Endocrinology Department, Hôpital Cochin, AP-HP, & Institut Cochin, INSERM U1016, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1055/s-0043-106858DOI Listing
April 2017

mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH).

Endocrinol Diabetes Metab Case Rep 2017 27;2017. Epub 2017 Mar 27.

Endocrinology Department, Hospital Curry Cabral, Centro Hospitalar de Lisboa Central, LisbonPortugal.

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http://dx.doi.org/10.1530/EDM-16-0135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404469PMC
March 2017

Analysis of ARMC5 expression in human tissues.

Mol Cell Endocrinol 2017 02 24;441:140-145. Epub 2016 Aug 24.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2016.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5235969PMC
February 2017

THE CHALLENGE OF EARLY DIAGNOSIS OF CUSHING DISEASE RECURRENCE!

Endocr Pract 2016 11 17;22(11):1356-1357. Epub 2016 Oct 17.

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http://dx.doi.org/10.4158/EP161600.CODOI Listing
November 2016

Serum RARRES2 Is a Prognostic Marker in Patients With Adrenocortical Carcinoma.

J Clin Endocrinol Metab 2016 09 23;101(9):3345-52. Epub 2016 Jun 23.

Endocrine Oncology Branch (Y.L.-C., D.P., K.G., E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Pathology (T.J.G.), University of Michigan, Ann Arbor, Michigan 48109; Institut Cochin (G.A., J.B.), Inserm Unité 1016, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Descartes University, 75014, Paris, France; and Department of Endocrinology (G.A., J.B.), Reference Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, 75014, Paris, France.

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http://dx.doi.org/10.1210/jc.2016-1781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010575PMC
September 2016

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

J Clin Endocrinol Metab 2016 09 7;101(9):3526-38. Epub 2016 Jul 7.

Department of Internal Medicine I (C.L.R., I.W., M.F.), Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, 97080 Wuerzburg, Germany; Medizinische Klinik und Poliklinik IV (G.D.D., M.R., F.B.), Klinikum der Universitaet Muenchen, 80337 Munich, Germany; Comprehensive Cancer Center Mainfranken (S.S., S.A., M.F.), University of Wuerzburg, 97080 Wuerzburg, Germany; Institut Cochin, Inserm U1016 (S.F., G.A., J.B.), CNRS UMR8104, Descartes University, 75006 Paris, France; Department of Endocrinology (S.F., G.A., J.B.), Reference Center for Rare Adrenal Diseases, Hôpital Cochin, 75014 Paris, France; Institute of Pharmacology and Toxicology and Bio-Imaging Center/Rudolf Virchow Center (D.C.), University of Wuerzburg, 97080 Wuerzburg, Germany; Institute of Human Genetics (T.S., T.M.S.), Helmholtz Zentrum Munich, 85764 Neuherberg, Germany; Core Unit System Medicine University of Wuerzburg (S.A.), 97080 Wuerzburg, Germany; Endocrinology Unit (B.R., C.S., F.M.), University Hospital of Padua, 35122 Padua, Italy; Department of Visceral, Thoracic, and Vascular Surgery (J.W., D.K.B.), University Hospital Giessen and Marburg, 35043 Marburg, Germany; Endocrinology Unit (M.M.), Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50121 Florence, Italy; Department of Endocrinology (D.K.), University Hospital Centre Zagreb, 10000 Zagreb, Croatia; Unit of Endocrinology and Metabolic Diseases (I.C.), Fondazione IRCCS Cá Granda-Ospedale Maggiore Policlinico, 20122 Milan, Italy; Institute of Human Genetics (T.M.S.), Technische Universität Munich, 80333 Munich, Germany; and Central Laboratory (M.F.), Research Unit, University Hospital Wuerzburg, 97080 Wuerzburg, Germany.

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http://dx.doi.org/10.1210/jc.2016-1586DOI Listing
September 2016

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

Front Endocrinol (Lausanne) 2016 20;7:98. Epub 2016 Jul 20.

U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, INSERM, Institute for Research and Innovation in Biomedicine, Mont-Saint-Aignan, France; Normandie Université, UNIROUEN, Rouen, France.

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http://dx.doi.org/10.3389/fendo.2016.00098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951519PMC
August 2016

Preoperative risk factors of hemodynamic instability during laparoscopic adrenalectomy for pheochromocytoma.

Surg Endosc 2016 07 18;30(7):2984-93. Epub 2015 Dec 18.

Department of Digestive and Endocrine Surgery, Cochin Hospital, APHP, Université Paris Descartes, 27, rue du Faubourg Saint Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1007/s00464-015-4587-xDOI Listing
July 2016

[Adrenocortical carcinoma and pregnancy].

Ann Endocrinol (Paris) 2016 Jun 9;77(2):139-47. Epub 2016 May 9.

Department of Endocrinology, Cochin University Hospital, AP-HP, French Adrenal Cancer Network COMETE-Cancer, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France; UMR 8104, institut Cochin, Paris, France.

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http://dx.doi.org/10.1016/j.ando.2016.04.024DOI Listing
June 2016

[What is new in endocrinology].

Rev Prat 2016 04;66(4):407-411

Service d'endocrinologie, hôpital Cochin, Paris, France.

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April 2016

TNF alpha signaling is associated with therapeutic responsiveness to vascular disrupting agents in endocrine tumors.

Mol Cell Endocrinol 2016 Mar 6;423:87-95. Epub 2016 Jan 6.

Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

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http://dx.doi.org/10.1016/j.mce.2015.12.009DOI Listing
March 2016

5th International ACC Symposium: Classification of Adrenocortical Cancers from Pathology to Integrated Genomics: Real Advances or Lost in Translation?

Horm Cancer 2016 Feb 16;7(1):3-8. Epub 2015 Dec 16.

INSERM U1016, CNRS UM8104, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1007/s12672-015-0242-1DOI Listing
February 2016

Pregnancy in Women Previously Treated for an Adrenocortical Carcinoma.

J Clin Endocrinol Metab 2015 Dec 13;100(12):4604-11. Epub 2015 Oct 13.

Department of Endocrinology (P.d.C., L.C., M.-L.R.S.), Ambroise Paré University Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 92100 Boulogne Billancourt, France; Medizinische Klinik IV (K.R., M.F.), Klinikum der Universität München, München 80336, Germany; Inserm U1173 (L.C., M.-L.R.-S.), Université de Versailles St-Quentin-en-Yvelines, 78280 Montigny-le-Bretonneux, France; Unité de Recherche Clinique (J.R.), Hospitalo Universitaire Paris Île-de-France Ouest, AP-HP, Hôpital Ambroise Paré, 92100 Boulogne, France; Funktionsbereich Spezielle Endokrinologie (M.S.), Universitätsklinikum Düsseldorf, 40225 Düsseldorf, Germany; Department of Endocrinology (R.L., J.B., X.B.), Cochin University Hospital, AP-HP, French Adrenal Cancer Network COrtico MEdullo-surrénale Tumeur Endocrines (COMETE)-Cancer and Unite Mixte de Recherche 8104, Institut Cochin, 75014 Paris, France; Comprehensive Cancer Center Mainfranken (A.-C.K., M.F.), University of Würzburg, Würzburg, 97080 Germany; Institut Gustave Roussy (S.L.), 94800 Villejuif, France; Department of Medicine I (T.D., M.F.), Endocrine Unit, University Hospital, University of Würzburg, Würzburg, 97080 Germany; Centre Hospitalier Régional Universitaire de Lille (C.D.C.), Lille, 59000 France; Endocrinology and Diabetes Unit (S.H), Department of Medicine I, University Hospital, University of Würzburg, 97080 Würzburg, Germany; Department of Endocrinology (D.D.), Nantes University Hospital, 44000 Nantes, France; Department of Endocrinology and Nephrology (K.M.), University of Leipzig, 04357 Leipzig, Germany; Service d'Endocrinologie Maladies Métaboliques et Nutrition (P.C.), Pôle Cardio-Vasculaire et Métabolique, Centre Hospitalier Universitaire Larrey, 10623 Toulouse, France; Division of Endocrinology and Diabetology (J.W.), University Hospital Giessen and Marburg, Campus Marburg, 35041 Marburg, Germany; Department of Endocrinology (O.C.), Michallon Teaching Hospital, 38043 Grenoble, France; Endocrinol

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http://dx.doi.org/10.1210/jc.2015-2341DOI Listing
December 2015

Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD).

J Clin Endocrinol Metab 2015 Nov 21;100(11):4332-8. Epub 2015 Sep 21.

Institut National de la Santé et de la Recherche Médicale U1016 (D.V., L.C., F.T., C.A.C., X.B., J.B.), Centre Nationale de Recherche Scientifique 8104, Université Paris Descartes, Institut Cochin, Paris, 75014 France; Service d'Endocrinologie et Maladies Métaboliques, Pôle Cardio-Vasculaire et Métabolique, Centre Hospitalier Universitaire Larrey, 31059 Toulouse; Université Toulouse III Paul Sabatier, 31062 Toulouse; Unité Mixte de Recherche, INSERM, 1037 (D.V.), Centre de Recherche en Cancérologie de Toulouse, 31432 Toulouse, France; Service de Médecine Nucléaire (F.T.), Hôpital Cochin, 75014, Paris, France; Service d'Endocrinologie, Centre Hospitalier Universitaire Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne, France; EA2493, UFR de la Santé Simone Veil (L.C.), Université Versailles St Quentin, Montigny le Bretonneux, France; Service d'Anatomopathologie (F.T.), Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié Salpétrière, Université Pierre et Marie Curie, 75010, Paris, France; Service de Radiologie (M.B., P.L.), Hopital Cochin, 75014, Paris, France; Departamento de Endocrinología (C.A.C.), Facultad de Medicina, Pontificia Universidad Católica de Chile, 8331150, Santiago, Chile; Service de Médecine Interne B (M.L.M.), Assistance Publique Hôpitaux de Paris, Hôpital Lariboisière, Paris, France; Service d'Endocrinologie, Centre Hospitalier Victor Dupouy, 95107 Argenteuil, France (G.B.); Service d'Endocrinologie (H.L.), Institute for Research and Innovation in Biomedicine, Centre Hospitalier Universitaire de Rouen, 76031 Rouen, France; Service d'Endocrinologie (S.H.), de Diabetologie et de Médecine de la Reproduction, Hôpital L'Archet, 06200 Nice, France; Service d'Endocrinologie et Maladies Metaboliques (A.T.), Centre Hospitalier Universitaire de Bordeaux, Hopital du Haut Leveque, 33600 Pessac, France; Service d'Endocrinologie (X.B., J.B.), Hopital Cochin, 75014 Paris, France; Service d'Endocrinologie et Métab

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http://dx.doi.org/10.1210/jc.2015-2174DOI Listing
November 2015

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

J Biol Chem 2015 Nov 24;290(46):27816-28. Epub 2015 Sep 24.

From the INSERM U970, Université Paris Descartes, Paris Centre de Recherche Cardiovasculaire, 56 Rue Leblanc, 75015 Paris, France, the Service de Biochimie et Génétique Moléculaire and

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http://dx.doi.org/10.1074/jbc.M115.656553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646027PMC
November 2015

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

Eur J Endocrinol 2015 Oct 10;173(4):435-40. Epub 2015 Jul 10.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USADepartment of Radiology and Imaging SciencesNational Institutes of Health (NIH), Clinical Center, Bethesda, Maryland 20892, USADepartment of EndocrinologyMetabolism, and Diabetes, Institut National de la Santé et de la Recherche Médicale (INSERM) Unit 1016, Institut Cochin, Centre National de la Recherche Scientifique (CNRS) UMR 8104, 75014 Paris, FranceGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba, Paraná, Brazil.

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http://dx.doi.org/10.1530/EJE-15-0205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572515PMC
October 2015

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Endocr Relat Cancer 2015 Oct 17;22(5):745-57. Epub 2015 Jul 17.

Departments of Endocrinology and Human GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumClinical Center of Endocrinology and GerontologyMedical University, Sofia, BulgariaDepartment of EndocrinologyKing Edward Memorial Hospital, Mumbai, IndiaAssistance Publique-Hôpitaux de ParisHôpitaux Universitaires Paris-Sud, Service d'Endocrinologie et des Maladies de la Reproduction et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre F-94275, FranceUMR S1185Univ Paris-Sud, F-94276 Le Kremlin-Bicêtre, FranceINSERM U1185Faculté de Médecine Paris-Sud, F-94276 Le Kremlin-Bicêtre, FranceServicio de Endocrinología y NutriciónHospital Universitario La Paz, Madrid, SpainSection on Endocrinology and GeneticsProgram on Developmental Endocrinology & Genetics & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USADivision of EndocrinologyDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USADepartment of EndocrinologyGreenlane Clinical Centre, Auckland, New ZealandSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Centre, Rotterdam, The NetherlandsSection of Endocrinology and Internal MedicineDepartment of Medical Sciences, University of Ferrara, Via Savonarola 9, 44121 Ferrara, ItalyServicio de EndocrinologíaHospital Universitario Puerta De Hierro, Majadahonda, Madrid, SpainService d'endocrinologie-diabétologieCentre Hospitalier Lucien Hussel, Montée du Docteur Chapuis BP127, 38 209 Vienne cedex, FranceMurdoch Children's Research InstituteRoyal Children's Hospital, University of Melbourne, Parkville, Victoria, AustraliaDepartments of Internal Medicine and PediatricsOulu University Hospital, University of Oulu, Oulu, FinlandDepartments of Neuroen

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October 2015

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

Eur J Endocrinol 2015 Oct 11;173(4):M121-31. Epub 2015 Aug 11.

Institut National de la Santé et de la Recherche Médicale (INSERM) U1016 Centre National de la Recherche Scientifique (CNRS) UMR 8104, Institut Cochin, Université Paris-Descartes, 75014 Paris, France Department of Endocrinology Referral Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, 27 rue du Faubourg St Jacques, 75014 Paris, France Institut National de la Santé et de la Recherche Médicale (INSERM) U1016 Centre National de la Recherche Scientifique (CNRS) UMR 8104, Institut Cochin, Université Paris-Descartes, 75014 Paris, France Department of Endocrinology Referral Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, 27 rue du Faubourg St Jacques, 75014 Paris, France

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October 2015

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.

Cornea 2015 Sep;34(9):1086-91

*APHP, Hôpital Lariboisière, Service d'Ophtalmologie, Paris, France; †Université Paris Diderot, Sorbonne Paris Cité, Paris, France; ‡APHP, Hôpital Cochin, Service d'Ophtalmologie, Paris, France; §Université Paris Descartes, Faculté de Médecine, Paris, France; ¶Institute for Biomedical Research, Faculty of Medecine, University of Rouen, France; ‖Department of Genetics, Rouen University Hospital, Rouen, France; **AP-HP, Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and Institut National de la Santé et de la Recherche Médicale, Paris, France; and ††APHP, Hôpital Cochin, Service d'Endocrinologie, Paris, France.

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September 2015

The 10 Hounsfield units unenhanced computed tomography attenuation threshold does not apply to cortisol secreting adrenocortical adenomas.

Eur J Endocrinol 2015 Sep;173(3):325-32

Department of EndocrinologyReferral Center for Rare Adrenal Diseases, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, 27, rue du Faubourg Saint Jacques, 75014 Paris, FranceDepartment of EndocrinologyDiabetes Mellitus, and Metabolic Diseases, Avicenne Hospital, Assistance Publique Hôpitaux de Paris, Paris XIII University, 93009 Bobigny, FranceMetabolic UnitWestern General Hospital, Edinburgh, UKDepartment of RadiologyAssistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceUniversité Paris DescartesSorbonne Paris Cité, Paris, FranceDepartment of Digestive and Endocrine SurgeryHormonal BiologyAssistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceDepartment of PathologyAssistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpétrière, Pierre et Marie Curie Université, Paris, FranceDepartment of PathologyAssistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceINSERM U1016CNRS UMR8104, Institut Cochin, Paris, France Department of EndocrinologyReferral Center for Rare Adrenal Diseases, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, 27, rue du Faubourg Saint Jacques, 75014 Paris, FranceDepartment of EndocrinologyDiabetes Mellitus, and Metabolic Diseases, Avicenne Hospital, Assistance Publique Hôpitaux de Paris, Paris XIII University, 93009 Bobigny, FranceMetabolic UnitWestern General Hospital, Edinburgh, UKDepartment of RadiologyAssistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceUniversité Paris DescartesSorbonne Paris Cité, Paris, FranceDepartment of Digestive and Endocrine SurgeryHormonal BiologyAssistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceDepartment of PathologyAssistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpétrière, Pierre et Marie Curie Université, Paris, FranceDepartment of PathologyAssistance Publique Hôpitaux de Paris, Hôpital Cochin

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September 2015

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

J Clin Endocrinol Metab 2015 Aug 1;100(8):2837-40. Epub 2015 Jun 1.

Department of Endocrinology, Referral Center for Rare Adrenal Diseases (L.B., G.J., J.B., L.G.), and Departments of Dermatology (C.V.H., N.D.) and Pathology (S.L.-R.), Assistance Publique Hôpitaux de Paris, Hôpital Cochin, 75014 Paris, France; Inserm U1016 (J.B., L.G., N.D.), Centre National de la Recherche Scientifique UMR 8104, Université Paris-Descartes, Institut Cochin, 75014 Paris, France; Departments of Pathology (M.B.) and Neurosurgery (S.G.), Hôpital Foch, 92151 Suresnes, France; and Syphilis National Reference Center (N.D.), Hôpital Cochin, 75014 Paris, France.

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http://dx.doi.org/10.1210/jc.2015-2049DOI Listing
August 2015

The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.

J Clin Endocrinol Metab 2015 Jul 5;100(7):E997-1004. Epub 2015 May 5.

Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind

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http://dx.doi.org/10.1210/jc.2015-1453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490309PMC
July 2015

Functional histopathological markers of aldosterone producing adenoma and somatic KCNJ5 mutations.

Mol Cell Endocrinol 2015 Jun 21;408:220-6. Epub 2015 Jan 21.

INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Paris, France. Electronic address:

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June 2015

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.

J Clin Endocrinol Metab 2015 Jun 30;100(6):2303-13. Epub 2015 Mar 30.

University Paris-Sud (C.B., L.E., J.Y.), Assistance Publique Hôpitaux de Paris, Paris, France; Department of Pediatric Endocrinology (C.B., L.E.), Bicêtre Hospital, F-94275 Le Kremlin Bicêtre, France; French Reference Center of Rare Disorders of Sexual Development, (C.B., L.E., A.B.d.l.P., Y.M., V.T.-G., J.Y.), F-94275 Le Kremlin Bicetre, France; Department of Endocrinology (P.R.-P.), Tours Hospital, F-37380 Tours, France; Department of Endocrinology (A.B.d.l.P.), Lyon University Hospital, F-69000 Lyon, France; Department of Endocrinology (F.I.), Angers Hospital, Angers, France; Department of Endocrinology (V.K.), Brest University Hospital, F-29600 Brest, France; Department of Endocrinology (V.P.-V.), Brabois Hospital, F-54200 Nancy, France; Department of Endocrinology (D.Dr.), Nantes University Hospital, F-44000 Nantes, France; Department of Reproductive Endocrinology (S.C.-M.), St-Antoine Hospital, F-75012 Paris, France; Department of Endocrinology (F.G., D.P.), Rennes Hospital, F-35203 Rennes, France; Department of Endocrinology (T.B.), La Timone Hospital, F-13385 Marseilles, France; Department of Endocrinology (Y.R.), Hospital Nacre, Caen, France; Department of Endocrinology (F.S.), Jean Minjoz Hospital, Besançon, France; Department of Endocrinology (X.P.), Poitiers Hospital, Poitiers, France; Department of Endocrinology (G.C.), Strasbourg Hospital, F-67000 Strasbourg, France; Department of Endocrinology (B.D.), Reims Hospital, F-51100 Reims, France; Department of Endocrinology (I.T.), Clermond-Ferrand Hospital, F-63100 Clermond-Ferrand, France; Department of Endocrinology (M.-L.R.-S.), Ambroise Paré Hospital, F-92104 Boulogne-Billancourt, France; Department of Endocrinology (PE), Orléans Hospital, Orléans, France; Department of Endocrinology (J.B.), Cochin Hospital, Paris, France; Department of Endocrinology (J.-M.K.), Rouen Teaching Hospital, F-76031 Rouen, France; Department of Endocrinology, Toulouse Teaching Hospital, F-31059; Department of Pediatric

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http://dx.doi.org/10.1210/jc.2014-4124DOI Listing
June 2015

Primary Aldosteronism and ARMC5 Variants.

J Clin Endocrinol Metab 2015 Jun 30;100(6):E900-9. Epub 2015 Mar 30.

Section on Endocrinology and Genetics (M.Z., P.X., F.R.F., A.B., A.G., M.H.S.-R., M.B., S.B.A., S.E., M.B.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Biostatistics and Clinical Epidemiology Service (N.S.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Laboratory of Pathology (M.M.Q., M.M.), Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Pediatrics (A.H.), University Hospitals Case Medical Center, Rainbow Babies and Children's Hospital, Cleveland, Ohio 44106; Cardiovascular Disease Section (R.L., G.A., L.D., B.R.), Genomics of Metabolic, Cardiovascular, and Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology, Metabolism, and Diabetes (A.D., S.Y.G., R.N., J.B.), Inserm Unit 1016, Centre National de la Recherche Scientifique UMR 8104, Institut Cochin, 75014 Paris, France; and Endocrine Oncology Branch (E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2014-4167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454793PMC
June 2015

The genetics of adrenocortical tumors.

Endocrinol Metab Clin North Am 2015 Jun;44(2):311-34

Cochin Institut, INSERM U1016, 24 rue du Faubourg Saint Jacques, Paris 75014, France; Cochin Institut, CNRS UMR8104, 24 rue du Faubourg Saint-Jacques, Paris 75014, France; Paris Descartes University, 12 rue de l'Ecole de Médecine, Paris 75006, France; Endocrinology Department, Center for Rare Adrenal Diseases, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, 27 Rue du Fg-St-Jacques, Paris F-75014, France. Electronic address:

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June 2015

Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism.

Front Endocrinol (Lausanne) 2015 20;6:34. Epub 2015 Apr 20.

INSERM Unité 982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication , Mont-Saint-Aignan , France ; Institute for Research and Innovation in Biomedicine, Rouen University , Mont-Saint-Aignan , France.

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http://dx.doi.org/10.3389/fendo.2015.00034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403554PMC
May 2015

SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

J Clin Endocrinol Metab 2015 Feb 18;100(2):E287-91. Epub 2014 Nov 18.

INSERM (M.M., C.B., C.L-L., L.A., A-P.G-R., J.F.), UMR U970, Paris Cardiovascular Research Center-PARCC, F-75015 Paris, France; Université Paris Descartes (M.M., C.B., J.B., C.L-L., L.A., M.S., A-P.G-R., J.F.), Sorbonne Paris Cité, Faculté de Médecine, F-75006 Paris, France; Department of Pathology (L.O., R.d.K.), Erasmus MC Cancer Institute, Erasmus MC, University Medical Center, Rotterdam, The Netherlands; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Département d'Anatomo-Pathologie (C.B.), Services d'Hypertension Artérielle (L.A.), Chirurgie Digestive (F.Z.), and Génétique (A-P.G-R.), F-75015 Paris, France; Assistance Publique-Hôpitaux de Paris (J.B.), Hôpital Cochin, Centre de Référence Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Métaboliques, F-75014 Paris, France; INSERM (J.B.), U1016, CNRS UMR8104, Département d'Endocrinologie, Métabolisme and Cancer, Institut Cochin, F-75014 Paris, France; Rare Adrenal Cancer Network-Cortico Médullosurrénale Tumeur Endocrine (J.B., A-P.G-R.), Institut National du Cancer, F-75014 Paris, France; Collège de France (X.I.), Centre Interdisciplinaire de Recherche en Biologie, F-75005 Paris, France; INSERM U1050 (X.I.), F-75005 Paris, France; and CNRS UMR7241 (X.I., M.S.), F-75005 Paris, France.

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http://dx.doi.org/10.1210/jc.2014-1870DOI Listing
February 2015

Adrenocortical growth and cancer.

Compr Physiol 2015 Jan;5(1):293-326

Inserm, U1016, Institut Cochin, Paris, France Cnrs, UMR8104, Paris, France Université Paris Descartes, Sorbonne Paris Cité, France Department of Endocrinology, Referral Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France.

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http://dx.doi.org/10.1002/cphy.c140010DOI Listing
January 2015

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

Nat Commun 2015 Jan 27;6:6044. Epub 2015 Jan 27.

1] INSERM, UMR970, Paris-Cardiovascular Research Center, F-75015 Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, F-75006 Paris, France [3] Department of Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, F-75015 Paris, France [4] Rare Adrenal Cancer Network COMETE, F-75006 Paris, France.

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http://dx.doi.org/10.1038/ncomms7044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354166PMC
January 2015

mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).

Hum Mol Genet 2014 Oct 27;23(20):5418-28. Epub 2014 May 27.

Génétique Reproduction et Développement (GReD), Clermont Université, Université Blaise Pascal, Clermont-Ferrand Cedex 1 63012, France, CNRS, UMR 6293, GReD, INSERM, U1103, Aubière Cedex 63171, France, GReD, INSERM, U1103, Aubière Cedex 63171, France,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184389PMC
October 2014

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Endocr Relat Cancer 2014 Aug 23;21(4):567-77. Epub 2014 May 23.

Institute of PathologyUniversity Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Krankenhausstraße 8-10, D-91054 Erlangen, GermanyProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USADivision Molecular Genome AnalysisDivision of Theoretical BioinformaticsGerman Cancer Research Center (DKFZ), Heidelberg, GermanyInstitut CochinINSERM U1016, CNRS UMR 8104, Université Paris Descartes, Sorbonne Paris Cité, Paris, FranceDepartment of EndocrinologyReferal Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceInstitute of PathologyUniversity Medical Center, Georg-August University, Göttingen, GermanyInstitute of PathologyUniversity Hospital, Albert-Ludwigs University Freiburg, Freiburg, GermanySchool of Clinical and Experimental MedicineCollege of Medical and Dental Sciences, Centre for Rare Diseases and Personalised Medicine, Birmingham Women's Hospital, University of Birmingham and West Midlands Regional Genetics Service, Birmingham, UKDepartment of Medical GeneticsUniversity of Cambridge, Cambridge CB2 0QQ, UKLaboratory Medicine and PathologyEmeritus Staff, Mayo Clinic, Rochester, Minnesota, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722532PMC
August 2014