Zobrazeno 1 - 10
of 309
pro vyhledávání: '"Anne Paule, Gimenez Roqueplo"'
Autor:
Robin Knuchel, Zoran Erlic, Sven Gruber, Laurence Amar, Casper K. Larsen, Anne-Paule Gimenez-Roqueplo, Paolo Mulatero, Martina Tetti, Alessio Pecori, Christina Pamporaki, Katharina Langton, Mirko Peitzsch, Filippo Ceccato, Aleksander Prejbisz, Andrzej Januszewicz, Christian Adolf, Hanna Remde, Livia Lenzini, Michael Dennedy, Jaap Deinum, Emily Jefferson, Anne Blanchard, Maria-Christina Zennaro, Graeme Eisenhofer, Felix Beuschlein
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionEndocrine hypertension (EHT) due to pheochromocytoma/paraganglioma (PPGL), Cushing’s syndrome (CS), or primary aldosteronism (PA) is linked to a variety of metabolic alterations and comorbidities. Accordingly, patients with EHT and prim
Externí odkaz:
https://doaj.org/article/7bc756e1d289446f9c414f5d8d35cf58
Autor:
Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie
Publikováno v:
Haematologica, Vol 108, Iss 6 (2023)
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we describe a
Externí odkaz:
https://doaj.org/article/d370565ff3d9457892e7dd6d85e42fcb
Autor:
Parminder S. Reel, Smarti Reel, Josie C. van Kralingen, Katharina Langton, Katharina Lang, Zoran Erlic, Casper K. Larsen, Laurence Amar, Christina Pamporaki, Paolo Mulatero, Anne Blanchard, Marek Kabat, Stacy Robertson, Scott M. MacKenzie, Angela E. Taylor, Mirko Peitzsch, Filippo Ceccato, Carla Scaroni, Martin Reincke, Matthias Kroiss, Michael C. Dennedy, Alessio Pecori, Silvia Monticone, Jaap Deinum, Gian Paolo Rossi, Livia Lenzini, John D. McClure, Thomas Nind, Alexandra Riddell, Anthony Stell, Christian Cole, Isabella Sudano, Cornelia Prehn, Jerzy Adamski, Anne-Paule Gimenez-Roqueplo, Guillaume Assié, Wiebke Arlt, Felix Beuschlein, Graeme Eisenhofer, Eleanor Davies, Maria-Christina Zennaro, Emily Jefferson
Publikováno v:
EBioMedicine, Vol 84, Iss , Pp 104276- (2022)
Summary: Background: Arterial hypertension is a major cardiovascular risk factor. Identification of secondary hypertension in its various forms is key to preventing and targeting treatment of cardiovascular complications. Simplified diagnostic tests
Externí odkaz:
https://doaj.org/article/f0147aafa7ad44e8bd8bcc90ee34721a
Autor:
Louise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, Cristina Alvarez-Escola, Kornelia Hasse-Lazar, Simona Censi, Luciana A Castroneves, Akihiro Sakurai, Minoru Kihara, Kiyomi Horiuchi, Véronique Dorine Barbu, Francoise Borson-Chazot, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Stephane Pinson, Nelson Wohllk, Charis Eng, Berna Imge Aydogan, Dhananjaya Saranath, Sarka Dvorakova, Frederic Castinetti, Attila Patocs, Damijan Bergant, Thera P Links, Mariola Peczkowska, Ana O Hoff, Caterina Mian, Trisha Dwight, Barbara Jarzab, Hartmut P H Neumann, Mercedes Robledo, Shinya Uchino, Anne Barlier, Christian Godballe, Jes Sloth Mathiesen
Publikováno v:
Endocrine Connections, Vol 9, Iss 6, Pp 489-497 (2020)
Objective: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with appa
Externí odkaz:
https://doaj.org/article/fce9b24b992c46119c9143129797252c
Autor:
Smarti Reel, Parminder S. Reel, Zoran Erlic, Laurence Amar, Alessio Pecori, Casper K. Larsen, Martina Tetti, Christina Pamporaki, Cornelia Prehn, Jerzy Adamski, Aleksander Prejbisz, Filippo Ceccato, Carla Scaroni, Matthias Kroiss, Michael C. Dennedy, Jaap Deinum, Graeme Eisenhofer, Katharina Langton, Paolo Mulatero, Martin Reincke, Gian Paolo Rossi, Livia Lenzini, Eleanor Davies, Anne-Paule Gimenez-Roqueplo, Guillaume Assié, Anne Blanchard, Maria-Christina Zennaro, Felix Beuschlein, Emily R. Jefferson
Publikováno v:
Metabolites, Vol 12, Iss 8, p 755 (2022)
Hypertension is a major global health problem with high prevalence and complex associated health risks. Primary hypertension (PHT) is most common and the reasons behind primary hypertension are largely unknown. Endocrine hypertension (EHT) is another
Externí odkaz:
https://doaj.org/article/7d89e4aa518e46c5aaeab10441f012a5
Autor:
Paule Bénit, Judith Goncalves, Riyad El Khoury, Malgorzata Rak, Judith Favier, Anne-Paule Gimenez-Roqueplo, Pierre Rustin
Publikováno v:
Biomedicines, Vol 10, Iss 8, p 1788 (2022)
Research focused on succinate dehydrogenase (SDH) and its substrate, succinate, culminated in the 1950s accompanying the rapid development of research dedicated to bioenergetics and intermediary metabolism. This allowed researchers to uncover the imp
Externí odkaz:
https://doaj.org/article/fb1bca52e480479c8de00d10783417b0
Autor:
Nikolaos G. Bliziotis, Leo A. J. Kluijtmans, Gerjen H. Tinnevelt, Parminder Reel, Smarti Reel, Katharina Langton, Mercedes Robledo, Christina Pamporaki, Alessio Pecori, Josie Van Kralingen, Martina Tetti, Udo F. H. Engelke, Zoran Erlic, Jasper Engel, Timo Deutschbein, Svenja Nölting, Aleksander Prejbisz, Susan Richter, Jerzy Adamski, Andrzej Januszewicz, Filippo Ceccato, Carla Scaroni, Michael C. Dennedy, Tracy A. Williams, Livia Lenzini, Anne-Paule Gimenez-Roqueplo, Eleanor Davies, Martin Fassnacht, Hanna Remde, Graeme Eisenhofer, Felix Beuschlein, Matthias Kroiss, Emily Jefferson, Maria-Christina Zennaro, Ron A. Wevers, Jeroen J. Jansen, Jaap Deinum, Henri J. L. M. Timmers
Publikováno v:
Metabolites, Vol 12, Iss 8, p 679 (2022)
Despite considerable morbidity and mortality, numerous cases of endocrine hypertension (EHT) forms, including primary aldosteronism (PA), pheochromocytoma and functional paraganglioma (PPGL), and Cushing’s syndrome (CS), remain undetected. We aimed
Externí odkaz:
https://doaj.org/article/abff7db4cbcd43ff877f5cefe5971e51
Autor:
Luis Jaime Castro‐Vega, Bruna Calsina, Nelly Burnichon, Tom Drossart, Ángel M Martínez‐Montes, Virginie Verkarre, Laurence Amar, Jérôme Bertherat, Cristina Rodríguez‐Antona, Judith Favier, Mercedes Robledo, Anne‐Paule Gimenez‐Roqueplo
Publikováno v:
Clinical and Translational Medicine, Vol 10, Iss 8, Pp n/a-n/a (2020)
Externí odkaz:
https://doaj.org/article/c86aaa47ed534b7ca7424bca35413541
Autor:
Marie Auvray Kuentz, Hélène Blons, Anne Paule Gimenez‐Roqueplo, Pierre‐Alexandre Just, Pierre Laurent‐Puig, Arnaud Mejean, Stéphane Oudard, Virginie Verkarre
Publikováno v:
Genes, Chromosomes and Cancer. 62:361-366
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bda50c8fb129cff3dfc53d1ed9d972c2
https://doi.org/10.1002/gcc.23127
https://doi.org/10.1002/gcc.23127
Autor:
Roseline Vibert, Khadija Lahlou-Laforêt, Maryam Samadi, Valérie Krivosic, Thomas Blanc, Laurence Amar, Nelly Burnichon, Caroline Abadie, Stéphane Richard, Anne-Paule Gimenez-Roqueplo
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2022, 30 (10), pp.1171-1177. ⟨10.1038/s41431-022-01157-z⟩
European Journal of Human Genetics, 2022, 30 (10), pp.1171-1177. ⟨10.1038/s41431-022-01157-z⟩
International audience; Von Hippel-Lindau (VHL) disease is one of the most common cancer predisposition syndromes. Penetrance is high with around 20% of children presenting detectable and curable manifestations of the disease at 15 years old. VHL pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::620c2873ab933216fb16c8bdc3190f6a
https://doi.org/10.1038/s41431-022-01157-z
https://doi.org/10.1038/s41431-022-01157-z