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Application of omics-based strategies for improved diagnosis and treatment of endocrine hypertension

Deliverables

Publications

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

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