– International initiative for a curated  <i>SDHB</i> variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Laurene Ben Aim, Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon
J Med Genet, 2022 Aug, PMID: 34452955 PMCID: PMC8882202 DOI: 10.1136/jmedgenet-2020-107652

– Colocalization of Wnt/β-Catenin and ACTH Signaling Pathways and Paracrine Regulation in Aldosterone-producing Adenoma.
Kelly De Sousa, Alaa B Abdellatif, Isabelle Giscos-Douriez, Tchao Meatchi, Laurence Amar, Fabio L Fernandes-Rosa, Sheerazed Boulkroun, Maria-Christina Zennaro
J Clin Endocrinol Metab, 2022 Jan 18, PMID: 34570225 DOI: 10.1210/clinem/dgab707

– Hypertension With Negative Metaiodobenzylguanidine Scintigraphy.
Antoine-Guy Lopez, Anna F Dominiczak, Rhian Touyz, Markus Schlaich, Jean-Baptiste de Freminville, Laurence Amar
Hypertension, 2022 Feb, PMID: 34879700 DOI: 10.1161/HYPERTENSIONAHA.121.18012

– How to Explore an Endocrine Cause of Hypertension.
Jean-Baptiste de Freminville, Laurence Amar
J Clin Med, 2022 Jan 14, PMID: 35054115 PMCID: PMC8780426 DOI: 10.3390/jcm11020420

– Minors at risk of von Hippel-Lindau disease: 10 years » experience of predictive genetic testing and follow-up adherence.
Roseline Vibert, Khadija Lahlou-Laforêt, Maryam Samadi, Valérie Krivosic, Thomas Blanc, Laurence Amar, Nelly Burnichon, Caroline Abadie, Stéphane Richard, Anne-Paule Gimenez-Roqueplo
Eur J Hum Genet, 2022 Oct, PMID: 35918537 PMCID: PMC9553881 DOI: 10.1038/s41431-022-01157-z

– Identification of risk loci for primary aldosteronism in genome-wide association studies.
Edith Le Floch, Teresa Cosentino, Casper K Larsen, Felix Beuschlein, Martin Reincke, Laurence Amar, Gian-Paolo Rossi, Kelly De Sousa, Stéphanie Baron, Sophie Chantalat, Benjamin Saintpierre, Livia Lenzini, Arthur Frouin, Isabelle Giscos-Douriez, Matthis Ferey, Alaa B Abdellatif, Tchao Meatchi, Jean-Philippe Empana, Xavier Jouven, Christian Gieger, Melanie Waldenberger, Annette Peters, Daniele Cusi, Erika Salvi, Pierre Meneton, Mathilde Touvier, Mélanie Deschasaux, Nathalie Druesne-Pecollo, Sheerazed Boulkroun, Fabio L Fernandes-Rosa, Jean-François Deleuze, Xavier Jeunemaitre, Maria-Christina Zennaro
Nat Commun, 2022 Sep 3, PMID: 36057693 PMCID: PMC9440917 DOI: 10.1038/s41467-022-32896-8

– Vascular and hormonal interactions in the adrenal gland.
Alaa B Abdellatif, Fabio L Fernandes-Rosa, Sheerazed Boulkroun, Maria-Christina Zennaro
Front Endocrinol (Lausanne), 2022 Nov 24, PMID: 36506065 PMCID: PMC9731668 DOI: 10.3389/fendo.2022.995228

– Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O’Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL, Zennaro MC, Brown MJ.
Nat Genet. 2021 Aug 12, PMID: 34385710 DOI: 10.1038/s41588-021-00906-y

– Adrenal ganglioneuromas : a retrospective multicentric study of 104 cases from the COMETE network.
Deflorenne E, Peuchmaur M, Vezzosi D, Ajzenberg C, Brunaud L, Chevalier N, Christin-Maitre S, Decoudier B, Driessens N, Drui DD, Gilly O, Goudet P, Illouz F, Jublanc C, Lefebvre H, Lopez AG, Lussey C, Morini A, Raffin-Sanson ML, Raingeard I, Renoult-Pierre P, Storey C, Tabarin A, Vantyghem MC, Vidal-Petiot E, Baudin E, Bertherat J, Amar L.
Eur J Endocrinol. 2021 Jul 1, PMID: 34291731 DOI: 10.1530/EJE-20-1049

– Somatic mutations in adrenals from patients with primary aldosteronism not cured after adrenalectomy suggest common pathogenic mechanisms between unilateral and bilateral disease.
Inès Hacini, Kelly De Sousa, Sheerazed Boulkroun, Tchao Meatchi, Laurence Amar, Maria-Christina Zennaro, Fabio L Fernandes-Rosa
Eur J Endocrinol. 2021 Aug 3, PMID: 34232123 DOI: 10.1530/EJE-21-0338

– Identification of Surgically Curable Primary Aldosteronism by Imaging in a Large Multiethnic International Study.
Rossi GP, Crimì F, Rossitto G, Amar L, Azizi M, Riester A, Reincke M, Degenhart C, Widimsky J, Naruse M, Deinum J, Schultze Kool L, Kocjan T, Negro A, Rossi E, Kline G, Tanabe A, Satoh F, Rump LC, Vonend O, Willenberg HS, Fuller PJ, Yang J, Chee NYN, Magill SB, Shafigullina Z, Quinkler M, Oliveras A, Wu VC, Kratka Z, Barbiero G, Seccia TM, Battistel M.
J Clin Endocrinol Metab. 2021 Jul 2, PMID: 34212188 DOI: 10.1210/clinem/dgab482

– International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C.
Nat Rev Endocrinol. 2021 Jul, PMID: 34021277 PMCID: PMC8205850 DOI: 10.1038/s41574-021-00492-3

– Recurrence-free survival analysis in locally advanced pheochromocytoma: first appraisal.
Moog S, Castinetti F, DoCao C, Amar L, Hadoux J, Lussey-Lepoutre C, Borson-Chazot F, Vezzosi D, Drui D, Laboureau S, Raffin Sanson ML, Lamartina L, Pierre P, Batisse Ligner M, Hescot S, Al Ghuzlan A, Renaudin K, Libé R, Laroche S, Deniziaut G, Gimenez-Roqueplo AP, Jannin A, Leboulleux S, Guerin C, Faron M, Baudin E.
J Clin Endocrinol Metab. 2021 Mar 30, PMID: 33782697 DOI: 10.1210/clinem/dgab202

– Drug-resistant hypertension in primary aldosteronism patients undergoing adrenal vein sampling: the AVIS-2-RH study.
Rossi GP, Rossitto G, Amar L, Azizi M, Riester A, Reincke M, Degenhart C, Widimsky J, Naruse M, Deinum J, Schultze Kool L, Kocjan T, Negro A, Rossi E, Kline G, Tanabe A, Satoh F, Rump LC, Vonend O, Willenberg HS, Fuller PJ, Yang J, Chee NYN, Margill SB, Shafigullina Z, Quinkler M, Oliveras A, Lee BC, Wu VC, Kratka Z, Seccia TM, Lenzini L.
Eur J Prev Cardiol. 2021 Mar 20, PMID: 33742213 DOI: 10.1093/eurjpc/zwaa108

– Acute Stress Cardiomyopathy: Heart of pheochromocytoma.
Cornu E, Motiejunaite J, Belmihoub I, Vidal-Petiot E, Mirabel M, Amar L.
Ann Endocrinol (Paris). 2021 Jun, PMID: 32988608 DOI: 10.1016/j.ando.2020.03.011

– Aldosterone receptor antagonists.
Michel Azizi
Ann Endocrinol (Paris), 2021 Jun, PMID: 32473789 DOI: 10.1016/j.ando.2020.03.009

– Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.
Alexandre Buffet, Juan Zhang, Heggert Rebe, Eleonora P M Corssmit, Jeroen C Jansen, Erik F Hensen, Judith V M G Bovée, Aurélien Morini, Anne-Paule Gimenez-Roqueplo, Frederik J Hes, Peter Devilee, Judith Favier, Jean-Pierre Bayley
J Clin Endocrinol Metab, 2021 Jan 23, PMID: 33180916 DOI: 10.1210/clinem/dgaa819

– Circulating microRNAs as Diagnostic Markers in Primary Aldosteronism.
Scott M MacKenzie, Hannah Saunders, Josie C van Kralingen, Stacy Robertson, Alexandra Riddell, Maria-Christina Zennaro, Eleanor Davies
Cancers (Basel), 2021 Oct 22, PMID: 34771478 PMCID: PMC8582381 DOI: 10.3390/cancers13215312

– MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features.
Thomas Denize, Pierre Alexandre Just, Mathilde Sibony, Hélène Blons, Marc Olivier Timsit, Tom Drossart, Deborah Jakubowicz, Chloé Broudin, Aurélien Morini et al.
Mod Pathol, 2021 Mar, PMID: 32770124 DOI: 10.1038/s41379-020-0645-6

– Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.
Clotilde Saie, Alexandre Buffet, Juliette Abeillon, Delphine Drui, Sophie Leboulleux, Jérôme Bertherat, Delphine Zenaty, Caroline Storey, Françoise Borson-Chazot, Nelly Burnichon, Marie Vincent, Judith Favier, Eric Baudin, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Laurence Amar, Charlotte Lussey-Lepoutre
J Clin Endocrinol Metab, 2021 Mar 8, PMID: 33247927 DOI: 10.1210/clinem/dgaa888

– Genetics, prevalence, screening and confirmation of primary aldosteronism: a position statement and consensus of the Working Group on Endocrine Hypertension of The European Society of Hypertension.
Paolo Mulatero, Silvia Monticone, Jaap Deinum, Laurence Amar, Aleksander Prejbisz, Maria-Christina Zennaro, Felix Beuschlein, Gian Paolo Rossi, Tetsuo Nishikawa, Alberto Morganti, Teresa Maria Seccia, Yen-Hung Lin, Francesco Fallo, Jiri Widimsky
J Hypertens. 2020 Oct, PMID: 32890264 DOI: 10.1097/HJH.0000000000002510

– Glucocorticoid Excess in Patients with Pheochromocytoma Compared with Paraganglioma and Other Forms of Hypertension.
Georgiana Constantinescu, Katharina Langton, Catleen Conrad, Laurence Amar, Guillaume Assié, Anne-Paule Gimenez-Roqueplo, Anne Blanchard, Casper K Larsen, Paolo Mulatero, Tracy Ann Williams, Aleksander Prejbisz, Martin Fassnacht, Stefan Bornstein, Filippo Ceccato, Stephanie Fliedner, Michael Dennedy, Mirko Peitzsch, Richard Sinnott, Andrzej Januszewicz, Felix Beuschlein, Martin Reincke, Maria-Christina Zennaro, Graeme Eisenhofer, Jaap Deinum
J Clin Endocrinol Metab. 2020 Sep 1, PMID: 32609829 PMCID: PMC7413598 DOI: 10.1210/clinem/dgaa423

– Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.
Jacques W M Lenders, Michiel N Kerstens, Laurence Amar, Aleksander Prejbisz, Mercedes Robledo, David Taieb, Karel Pacak, Joakim Crona, Tomáš Zelinka, Massimo Mannelli, Timo Deutschbein, Henri J L M Timmers, Frederic Castinetti, Henning Dralle, Jřri Widimský, Anne-Paule Gimenez-Roqueplo, Graeme Eisenhofer
J Hypertens. 2020 Aug, PMID: 32412940 PMCID: PMC7486815 DOI: 10.1097/HJH.0000000000002438

– Succinate detection using in vivo 1 H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomes.
Charlotte Lussey-Lepoutre, Alexandre Bellucci, Nelly Burnichon, Laurence Amar, Alexandre Buffet, Tom Drossart, Sébastien Fontaine, Olivier Clement, Paule Benit, Pierre Rustin 8, Lionel Groussin, Tchao Meatchi, Anne-Paule Gimenez-Roqueplo, Bertrand Tavitian, Judith Favier
Eur J Nucl Med Mol Imaging. 2020 Jun, PMID: 31834447 DOI: 10.1007/s00259-019-04633-9

– Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study.
Judith Favier, Tchao Meatchi, Estelle Robidel, Cécile Badoual, Mathilde Sibony, An Thach Nguyen, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon
Mod Pathol, 2020 Jan, PMID: 31383958 DOI: 10.1038/s41379-019-0343-4

– Old and new genes in primary aldosteronism.
Sheerazed Boulkroun, Fabio Luiz Fernandes-Rosa, Maria-Christina Zennaro
Best Pract Res Clin Endocrinol Metab, 2020 Mar, PMID: 32007424 DOI: 10.1016/j.beem.2020.101375

– Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.
Kelly De Sousa, Sheerazed Boulkroun, Stéphanie Baron, Kazutaka Nanba, Maxime Wack, William E. Rainey, Angélique Rocha, Isabelle Giscos-Douriez, Tchao Meatchi, Laurence Amar, Simon Travers, Fabio L. Fernandes-Rosa, Maria-Christina Zennaro
Hypertension, 2020 Apr, PMID: 32114847 PMCID: PMC7098445 DOI: 10.1161/HYPERTENSIONAHA.119.14177

– Genetic and Genomic Mechanisms of Primary Aldosteronism.
Fabio L Fernandes-Rosa, Sheerazed Boulkroun, Maria-Christina Zennaro
Trends Mol Med, 2020 Sep, PMID: 32563556 DOI: 10.1016/j.molmed.2020.05.005

– Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.
Aaron Hanukoglu, Rosa Vargas-Poussou, Zohar Landau, Keren Yosovich, Marguerite Hureaux, Maria-Christina Zennaro
J Steroid Biochem Mol Biol, 2020 Nov, PMID: 33017655 DOI: 10.1016/j.jsbmb.2020.105755

– Germline mutations in the new E1 » cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Alexandre Buffet, Bruna Calsina, Shahida Flores, Sophie Giraud, Marion Lenglet, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický, Sophie Lejeune, Jean Louis Sadoul, Anne Barlier, Stephane Richard, Judith Favier, Nelly Burnichon, Betty Gardie, Patricia L Dahia, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo
J Med Genet, 2020 Nov, PMID: 31996412 PMCID: PMC7387210 DOI: 10.1136/jmedgenet-2019-106519

– An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.
Alexandre Buffet, Nelly Burnichon, Judith Favier, Anne-Paule Gimenez-Roqueplo
Best Pract Res Clin Endocrinol Metab, 2020 Mar, PMID: 32295730 DOI: 10.1016/j.beem.2020.101416

– Pathogenesis and treatment of primary aldosteronism.
Maria-Christina Zennaro, Sheerazed Boulkroun, Fabio L Fernandes-Rosa
Nat Rev Endocrinol, 2020 Oct, PMID: 32724183 DOI: 10.1038/s41574-020-0382-4

– Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.
Buffet, A ; Ben Aim, L ; Leboulleux, S ; Drui, D ; Vezzosi, D ; Libé, R & al
J Clin Endocrinol Metab, 2019 Apr 1, PMID: 30698717 DOI: 10.1210/jc.2018-02411

– [Phaeochromocytoma and paraganglioma].
Cornu, E ; Belmihoub, I ; Burnichon, N ; Grataloup, C ; Zinzindohoué, F ; Baron, S & al
Rev Med Interne, 2019 Nov, PMID: 31493938 DOI: 10.1016/j.revmed.2019.07.008

– Adrenal tumors: when to search for a germline abnormality?
Gimenez-Roqueplo, AP
Curr Opin Oncol, 2019 May, PMID: 30985498 DOI: 10.1097/CCO.000000000000052

– Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim, L ; Pigny, P ; Castro-Vega, LJ ; Buffet, A ; Amar, L ; Bertherat, J & al
J Med Genet, 2019 Aug, PMID: 30877234 DOI: 10.1136/jmedgenet-2018-105714

– Molecular mechanisms in primary aldosteronism
De Sousa, K ; Abdellatif, AB ; El Zein, RM ; Zennaro, MC
J Mol Endocrinol, 2019 Sep, PMID: 31397984 DOI: 10.1530/JOE-19-0193

– Clinical Outcomes of 1625 Patients With Primary Aldosteronism Subtyped With Adrenal Vein Sampling.
Rossi, GP ; Rossitto, G ; Amar, L ; Azizi, M ; Riester, A ; Reincke, M & al
Hypertension, 2019 Oct, PMID: 31476901 DOI: 10.1161/HYPERTENSIONAHA.119.13463

– Retinoic acid receptor α as a novel contributor to adrenal cortex structure and function through interactions with Wnt and Vegfa signalling.
El Zein, RM ; Soria, AH ; Golib Dzib, JF ; Rickard, AJ ; Fernandes-Rosa, FL ; Samson-Couterie, B & al
Sci Rep, 2019 Oct, PMID: 31605007 PMCID: PMC6789122 DOI: 10.1038/s41598-019-50988-2

– Adrenal adaptation in potassium-depleted men: role of progesterone?
Blanchard, A ; Brailly Tabard, S ; Lamaziere, A ; Bergerot, D ; Zhygalina, V ; Lorthioir, A & al
Nephrol Dial Transplant, 2020 Nov, PMID: 31369102 DOI: 10.1093/ndt/gfz135

– A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation.
Cardot-Bauters, C ; Carnaille, B ; Aubert, S ; Crépin, M ; Boury, S ; Burnichon, N & al
J Clin Endocrinol Metab, 2019 Aug 1, PMID: 31046099 DOI: 10.1210/jc.2019-00175

– Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells.
Bénit, P ; Kahn, A ; Chretien, D ; Bortoli, S ; Huc, L ; Schiff, M & al
PLoS One, 2019 Nov 7, PMID: 31697708 PMCID: PMC6837341 DOI: 10.1371/journal.pone.0224132

– Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism.
Göppner, C ; Orozco, IJ ; Hoegg-Beiler, MB ; Soria, AH ; Hübner, CA ; Fernandes-Rosa, FL & al
Nat Commun, 2019 Oct 15, PMID: 31615979 PMCID: PMC6794291 DOI: 10.1038/s41467-019-12113-9