Deliverables Websites, patent fillings, videos etc. (1) Establishment of project web site website of the project Publications Peer reviewed articles (41) Circulating microRNAs as Diagnostic Markers in Primary Aldosteronism. Author(s): Scott M. MacKenzie; Hannah Saunders; Josie C. van Kralingen; Stacy Robertson; Alexandra Riddell; Maria-Christina Zennaro; Eleanor Davies Published in: Cancers, Vol 13, Iss 5312, p 5312 (2021), Issue 2, 2021, ISSN 2072-6694 Publisher: Multidisciplinary Digital Publishing Institute (MDPI) DOI: 10.3390/cancers13215312 Pheochromocytoma and paraganglioma: molecular testing and personalized medicine Author(s): Gimenez-Roqueplo, Anne-Paule; Buffet, Alexandre; Burnichon, Nelly Published in: Current Opinion in Oncology, Issue 2, 2016, ISSN 1040-8746 Publisher: Lippincott Williams & Wilkins Ltd. Steroid metabolomics: machine learning and multidimensional diagnostics for adrenal cortical tumors, hyperplasias, and related disorders Author(s): Graeme Eisenhofer; Claudio Durán; Triantafyllos Chavakis; Carlo Vittorio Cannistraci; Carlo Vittorio Cannistraci Published in: Current Opinion in Endocrine and Metabolic Research, Issue 3, 2019, ISSN 2451-9650 Publisher: El sevier DOI: 10.1016/j.coemr.2019.07.002 Targeted metabolomics as a tool in discriminating endocrine from primary hypertension Author(s): Zoran Erlic; Parminder Singh Reel; Smarti Reel; Laurence Amar; Alessio Pecori; Casper K Larsen; Martina Tetti; Christina Pamporaki; Cornelia Prehn; Jerzy Adamski; Jerzy Adamski; Aleksander Prejbisz; Filippo Ceccato; Carla Scaroni; Matthias Kroiss; Michael C Dennedy; Jaap Deinum; Katharina Langton; Paolo Mulatero; Martin Reincke; Livia Lenzini; Anne-Paule Gimenez-Roqueplo; Guillaume Assié; Anne Bl Published in: urn:issn:0021-972X, Issue 1, 2021, ISSN 1662-4009 Publisher: European Society for Paediatric Endocrinology DOI: 10.1530/ey.18.8.7 Plasma versus urinary free or deconjugated O-methylated catecholamine metabolites Author(s): Graeme Eisenhofer, Aleksander Prejbisz, Mirko Peitzsch, Christina Pamporaki, Jimmy Masjkur, Natalie Rogowski-Lehmann, Katharina Langton, Elena Tsourdi, Mariola Pęczkowska, Stephanie Fliedner, Timo Deutschbein, Felix Megerle, Henri J L M Timmers, Richard Sinnott, Felix Beuschlein, Martin Fassnacht, Andrzej Januszewicz, Jacques W M Lenders Published in: Clinical Chemistry, Volume 64, Issue 11,, 2018, ISSN 0009-9147 Publisher: American Association for Clinical Chemistry, Inc. DOI: 10.1373/clinchem.2018.291369 A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics Author(s): • Nikolaos G. Bliziotis, • Udo F. H. Engelke, • Ruud L. E. G. Aspers, • Jasper Engel, • Jaap Deinum, • Henri J. L. M. Timmers, • Ron A. Wevers & • Leo A. J. Kluijtmans Published in: Metabolomics Volume 16, 2020, ISSN 1573-3882 Publisher: Springer Verlag DOI: 10.1007/s11306-020-01686-y Molecular genetics of Conn adenomas in the era of exome analysis Author(s): Rami M.El Zein, Sheerazed Boulkroun,Fabio Luiz Fernandes-Rosa, Maria-ChristinaZennaro Published in: La presse médicale, 2018, ISSN 0755-4982 Publisher: Elsevier Masson DOI: 10.1016/j.lpm.2018.07.006 From Transcripts to ProteinsNew Insight Into Aldosterone-Producing Adenoma Author(s): Maria-Christina Zennaro Published in: Hypertension, 2018, ISSN 0194-911X Publisher: Lippincott Williams & Wilkins Ltd. DOI: 10.1161/hypertensionaha.118.11820 Genetic and Genomic Mechanisms of Primary Aldosteronism Author(s): Fabio L.Fernandes-Rosa, Sheerazed Boulkroun, Maria-Christina Zennaro Published in: Trends in Molecular Medecine, 2020, ISSN 1471-499X Publisher: Cell Press DOI: 10.1016/j.molmed.2020.05.005 Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. Author(s): Ben Aim L; igny P; Luis Jaime Castro-Vega; Alexandre Buffet; Laurence Amar; Jérôme Bertherat; rui D; Isabelle Guilhem; Eric Baudin; Charlotte Lussey-Lepoutre; orsini C; Gérard Chabrier; Claire Briet; Laurence Faivre; ardot-Bauters C; Judith Favier; Anne-Paule Gimenez-Roqueplo; Nelly Burnichon Published in: Journal of Medical genetics, Issue 1, 2019, ISSN 0022-2593 Publisher: British Medical Association DOI: 10.1136/jmedgenet-2018-105714 Cortisol Excess in Patients With Primary Aldosteronism Impacts Left Ventricular Hypertrophy. Author(s): Adolf C, Köhler A, Franke A, Lang K, Riester A, Löw A, Heinrich DA, Bidlingmaier M, Treitl M, Ladurner R, Beuschlein F, Arlt W, Reincke M Published in: The Journal of clinical endocrinology and metabolism, Issue 2018 Dec 1, 2018, ISSN 0368-1610 Publisher: Springfield, Ill. : Charles C. Thomas DOI: 10.1210/jc.2018-00617 Using machine learning approaches for multi-omics data analysis: A review Author(s): Parminder Singh Reel; Smarti Reel; Ewan R. Pearson; Emanuele Trucco; Emily Jefferson Published in: Biotechnology Advances, Issue 4, 2021, ISSN 0734-9750 Publisher: Elsevier BV DOI: 10.1016/j.biotechadv.2021.107739 Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma Author(s): Nikolaos G. Bliziotis, Leo A. J. Kluijtmans, Sebastian Soto, Gerjen H. Tinnevelt, Katharina Langton, Mercedes Robledo, Christina Pamporaki, Udo F. H. Engelke, Zoran Erlic, Jasper Engel, Timo Deutschbein, Svenja Nölting, Aleksander Prejbisz, Susan Richter, Cornelia Prehn, Jerzy Adamski, Andrzej Januszewicz, Martin Reincke, Martin Fassnacht, Graeme Eisenhofer, Felix Beuschlein, Matthias Kroiss, Ron Published in: International Journal of Basic and Clinical Endocrinology, 2021, ISSN 1559-0100 Publisher: Springer DOI: 10.1007/s12020-021-02858-z Pathogenesis and treatment of primary aldosteronism Author(s): Zennaro, MC., Boulkroun, S. & Fernandes-Rosa, F.L Published in: Nature Review Endocrinology, 2020, ISSN 1759-5029 Publisher: Nature Publishing Group DOI: 10.1038/s41574-020-0382-4 Metabolic impact of pheochromocytoma/paraganglioma: targeted metabolomics in patients before and after tumor removal Author(s): Erlic Z, Kurlbaum M, Deutschbein T, Nölting S, Prejbisz A, Timmers H, Richter S, Prehn C, Weismann D, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Robledo M, Eisenhofer G, Beuschlein F, Kroiss M. Published in: European Journal of Endocrinology, 2019, ISSN 0804-4643 Publisher: BioScientifica Ltd. DOI: 10.1530/eje-19-0589 Steroid Hormone Production in Patients with Aldosterone Producing Adenomas Author(s): M. Moors, T. Williams, J. Deinum, G. Eisenhofer, M. Reincke, J. Lenders Published in: Hormone and Metabolic Research, Issue 47/13, 2015, Page(s) 967-972, ISSN 0018-5043 Publisher: Georg Thieme Verlag DOI: 10.1055/s-0035-1565225 Plasma Steroid Metabolome Profiling for Diagnosis and Subtyping Patients with Cushing Syndrome Author(s): Graeme Eisenhofer, Jimmy Masjkur, Mirko Peitzsch, Guido Di Dalmazi, Martin Bidlingmaier, Matthias Grüber, Julia Fazel, Andrea Osswald, Felix Beuschlein, Martin Reincke Published in: Clinical Chemistry, Issue 64/3, 2018, Page(s) 586-596, ISSN 0009-9147 Publisher: American Association for Clinical Chemistry, Inc. DOI: 10.1373/clinchem.2017.282582 Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing AdenomasNovelty and Significance Author(s): Tracy Ann Williams, Mirko Peitzsch, Anna S. Dietz, Tanja Dekkers, Martin Bidlingmaier, Anna Riester, Marcus Treitl, Yara Rhayem, Felix Beuschlein, Jacques W.M. Lenders, Jaap Deinum, Graeme Eisenhofer, Martin Reincke Published in: Hypertension, Issue 67/1, 2015, Page(s) 139-145, ISSN 0194-911X Publisher: Lippincott Williams & Wilkins Ltd. DOI: 10.1161/HYPERTENSIONAHA.115.06186 Plasma methoxytyramine: clinical utility with metanephrines for diagnosis of pheochromocytoma and paraganglioma Author(s): Rao, Dipti; Peitzsch, Mirko; Prejbisz, Aleksander; Hanus, Katarzyna; Fassnacht, Martin; Beuschlein, Felix; Brugger, Christina; Fliedner, Stephanie; Langton, Katharina; Pamporaki, Christina; Gudziol, Volker; Stell, Anthony; Januszewicz, Andrzej; Timmers, Henri J L M; Lenders, Jacques W M; Eisenhofer, Graeme Published in: European Journal of Endocrinology, Issue 2, 2017, Page(s) 103-113, ISSN 0804-4643 Publisher: BioScientifica Ltd. DOI: 10.5167/uzh-138824 Impact of LC-MS/MS on the laboratory diagnosis of catecholamine-producing tumors Author(s): Graeme Eisenhofer, Mirko Peitzsch, Brett C. McWhinney Published in: TrAC Trends in Analytical Chemistry, Issue 84, 2016, Page(s) 106-116, ISSN 0165-9936 Publisher: Elsevier BV DOI: 10.1016/j.trac.2016.01.027 Reference intervals for plasma concentrations of adrenal steroids measured by LC-MS/MS: Impact of gender, age, oral contraceptives, body mass index and blood pressure status Author(s): Graeme Eisenhofer, Mirko Peitzsch, Denise Kaden, Katharina Langton, Christina Pamporaki, Jimmy Masjkur, George Tsatsaronis, Anastasios Mangelis, Tracy A. Williams, Martin Reincke, Jacques W.M. Lenders, Stefan R. Bornstein Published in: Clinica Chimica Acta, Issue 470, 2017, Page(s) 115-124, ISSN 0009-8981 Publisher: Elsevier BV DOI: 10.1016/j.cca.2017.05.002 The Research Data Management Platform (RDMP): A novel, process driven, open-source tool for the management of longitudinal cohorts of clinical data Author(s): Thomas Nind, James Galloway, Gordon McAllister, Donald Scobbie, Wilfred Bonney, Christopher Hall, Leandro Tramma, Parminder Reel, Martin Groves, Philip Appleby, Alex Doney, Bruce Guthrie, Emily Jefferson Published in: GigaScience, 2018, Page(s) P 115-124, ISSN 2047-217X Publisher: Clinica Chimica Acta DOI: 10.1093/gigascience/giy060 Regulation of Corticosteroidogenic Genes by MicroRNAs Author(s): Stacy Robertson, Louise A. Diver, Samantha Alvarez-Madrazo, Craig Livie, Ayesha Ejaz, Robert Fraser, John M. Connell, Scott M. MacKenzie, Eleanor Davies Published in: International Journal of Endocrinology, Issue 2017, 2017, Page(s) 1-11, ISSN 1687-8337 Publisher: Hindawi Publishing Corporation DOI: 10.1155/2017/2021903 Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas Author(s): 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 Published in: Cancer Research, Issue 78/8, 2018, Page(s) 1914-1922, ISSN 0008-5472 Publisher: American Association for Cancer Research DOI: 10.1158/0008-5472.CAN-17-2463 Cortisol-related metabolic alterations assessed by mass spectrometry assay in patients with Cushing's syndrome Author(s): Guido Di Dalmazi, Marcus Quinkler, Timo Deutschbein, Cornelia Prehn, Nada Rayes, Matthias Kroiss, Christina M Berr, Günter Stalla, Martin Fassnacht, Jerzy Adamski, Martin Reincke, Felix Beuschlein Published in: European Journal of Endocrinology, Issue 177/2, 2017, Page(s) 227-237, ISSN 0804-4643 Publisher: BioScientifica Ltd. DOI: 10.1530/EJE-17-0109 Outcomes after adrenalectomy for unilateral primary aldosteronism: an international consensus on outcome measures and analysis of remission rates in an international cohort Author(s): Tracy A Williams, Jacques W M Lenders, Paolo Mulatero, Jacopo Burrello, Marietta Rottenkolber, Christian Adolf, Fumitoshi Satoh, Laurence Amar, Marcus Quinkler, Jaap Deinum, Felix Beuschlein, Kanako K Kitamoto, Uyen Pham, Ryo Morimoto, Hironobu Umakoshi, Aleksander Prejbisz, Tomaz Kocjan, Mitsuhide Naruse, Michael Stowasser, Tetsuo Nishikawa, William F Young, Celso E Gomez-Sanchez, John W Funder, Published in: The Lancet Diabetes & Endocrinology, Issue 5/9, 2017, Page(s) 689-699, ISSN 2213-8587 Publisher: Elsevier BV DOI: 10.1016/S2213-8587(17)30135-3 Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas Author(s): Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J.L.M. Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A. Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O. Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer Published in: The Journal of Clinical Endocrinology & Metabolism, Issue 102/4, 2017, Page(s) 1122-1132, ISSN 0021-972X Publisher: The Endocrine Society DOI: 10.1210/jc.2016-3829 Beyond a Disease Registry: An Integrated Virtual Environment for Adrenal Cancer Research Author(s): Richard O. Sinnott, Felix Beuschlein, Jemie Effendy, Graeme Eisenhofer, Stephan Gloeckner, Anthony Stell Published in: Journal of Grid Computing, Issue 14/4, 2016, Page(s) 515-532, ISSN 1570-7873 Publisher: Kluwer Academic Publishers DOI: 10.1007/s10723-016-9375-x Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas Author(s): Rodrigo A. Toledo, Nelly Burnichon, Alberto Cascon, Diana E. Benn, Jean-Pierre Bayley, Jenny Welander, Carli M. Tops, Helen Firth, Trish Dwight, Tonino Ercolino, Massimo Mannelli, Giuseppe Opocher, Roderick Clifton-Bligh, Oliver Gimm, Eamonn R. Maher, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Patricia L. M. Dahia Published in: Nature Reviews Endocrinology, 2016, ISSN 1759-5029 Publisher: Nature Publishing Group DOI: 10.1038/nrendo.2016.185 Pheochromocytoma and paraganglioma Author(s): Nelly Burnichon, Alexandre Buffet, Anne-Paule Gimenez-Roqueplo Published in: Current Opinion in Oncology, Issue 28/1, 2016, Page(s) 5-10, ISSN 1040-8746 Publisher: Lippincott Williams & Wilkins Ltd. DOI: 10.1097/CCO.0000000000000249 Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism Author(s): Wiebke Arlt, Katharina Lang, Alice J. Sitch, Anna S. Dietz, Yara Rhayem, Irina Bancos, Annette Feuchtinger, Vasileios Chortis, Lorna C. Gilligan, Philippe Ludwig, Anna Riester, Evelyn Asbach, Beverly A. Hughes, Donna M. O’Neil, Martin Bidlingmaier, Jeremy W. Tomlinson, Zaki K. Hassan-Smith, D. Aled Rees, Christian Adolf, Stefanie Hahner, Marcus Quinkler, Tanja Dekkers, Jaap Deinum, Michael Biehl Published in: JCI Insight, Issue 2/8, 2017, ISSN 2379-3708 Publisher: JCI Insight DOI: 10.1172/jci.insight.93136 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism Author(s): Fabio L. Fernandes-Rosa, Georgios Daniil, Ian J. Orozco, Corinna Göppner, Rami El Zein, Vandana Jain, Sheerazed Boulkroun, Xavier Jeunemaitre, Laurence Amar, Hervé Lefebvre, Thomas Schwarzmayr, Tim M. Strom, Thomas J. Jentsch, Maria-Christina Zennaro Published in: Nature Genetics, Issue 50/3, 2018, Page(s) 355-361, ISSN 1061-4036 Publisher: Nature Publishing Group DOI: 10.1038/s41588-018-0053-8 Mass Spectrometry-Based Adrenal and Peripheral Venous Steroid Profiling for Subtyping Primary Aldosteronism Author(s): G. Eisenhofer, T. Dekkers, M. Peitzsch, A. S. Dietz, M. Bidlingmaier, M. Treitl, T. A. Williams, S. R. Bornstein, M. Haase, L. C. Rump, H. S. Willenberg, F. Beuschlein, J. Deinum, J. W. M. Lenders, M. Reincke Published in: Clinical Chemistry, Issue 62/3, 2016, Page(s) 514-524, ISSN 0009-9147 Publisher: American Association for Clinical Chemistry, Inc. DOI: 10.1373/clinchem.2015.251199 Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma Author(s): Bruna Calsina, Luis Jaime Castro-Vega, Rafael Torres-Pérez, Lucía Inglada-Pérez, Maria Currás-Freixes, Juan María Roldán-Romero, Veronika Mancikova, Rocío Letón, Laura Remacha, María Santos, Nelly Burnichon, Charlotte Lussey-Lepoutre, Elena Rapizzi, Osvaldo Graña, Cristina Álvarez-Escolá, Aguirre A de Cubas, Javier Lanillos, Alfonso Cordero-Barreal, Ángel M Martínez-Montes, Alexandre Published in: Theranostics, Issue 9/17, 2019, Page(s) 4946-4958, ISSN 1838-7640 Publisher: Ivyspring International Publisher DOI: 10.7150/thno.35458 Effects of Treating Primary Aldosteronism on Renal Function Author(s): Bart J. Kramers, Cornelis Kramers, Jacques W. M. Lenders, Jaap Deinum Published in: The Journal of Clinical Hypertension, Issue 19/3, 2017, Page(s) 290-295, ISSN 1524-6175 Publisher: Wiley-Blackwell DOI: 10.1111/jch.12914 Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma Author(s): 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 Published in: Hypertension, Issue 75/4, 2020, Page(s) 1034-1044, ISSN 0194-911X Publisher: Lippincott Williams & Wilkins Ltd. DOI: 10.1161/hypertensionaha.119.14177 Identification of glucocorticoid-related molecular signature by whole blood methylome analysis Author(s): Roberta Armignacco, Guillaume Assié et al Published in: Eur J Endocrinol ., 2022, Page(s) 297–308, ISSN 0804-4643 Publisher: BioScientifica Ltd. DOI: 10.1530/eje-21-0907 Glucocorticoid Excess in Patients with Pheochromocytoma Compared with Paraganglioma and Other Forms of Hypertension Author(s): 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-Chr Published in: The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 9, 2020, ISSN 0021-972X Publisher: The Endocrine Society DOI: 10.1210/clinem/dgaa423 Reference intervals for LC-MS/MS measurements of plasma free, urinary free and urinary acid-hydrolyzed deconjugated normetanephrine, metanephrine and methoxytyramine Author(s): Graeme Eisenhofer et al Published in: Clinica Chimica Acta, 2018, ISSN 0009-8981 Publisher: Elsevier BV DOI: 10.1016/j.cca.2018.12.019 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 Author(s): Favier, Judith; Meatchi, Tchao; Robidel, Estelle; Badoual, Cécile; Sibony, Mathilde; Nguyen, An Thach; Gimenez-Roqueplo, Anne-Paule; Burnichon, Nelly Published in: Modern Pathology, Issue 1, 2019, ISSN 0893-3952 Publisher: Nature Publishing Group DOI: 10.1038/s41379-019-0343-4 EVIDENCE REQUIRED BY HEALTH TECHNOLOGY ASSESSMENT AND REIMBURSEMENT BODIES EVALUATING DIAGNOSTIC OR PROGNOSTIC ALGORITHMS THAT INCLUDE OMICS DATA Author(s): Alexandre Barna , Teresita M Cruz-Sanchez, Karen Berg Brigham , Cong-Tri Thuong, Finn Boerlum Kristensen and Isabelle Durand-Zaleski Published in: International Journal of Technology Assessment in Health Care, 2018, ISSN 0266-4623 Publisher: Cambridge University Press DOI: 10.1017/s026646231800048x Searching for OpenAIRE data... 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