Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration

by Alberto Cascón, Laura Remacha, Bruna Calsina, Mercedes Robledo
Published 2019-05-01

Paraganglioma of the tongue with SDHB gene mutation in a patient with Graves’ disease

by Marcela Adriana Duran Alvarez, Juan Jose Tavarez Rodriguez, Mercedes Robledo
Published 2019-04-01

Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation

by Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Antona
Published 2018-05-01

Plasma Metabolome Profiling for the Diagnosis of Catecholamine Producing Tumors

by Juliane März, Max Kurlbaum, Max Kurlbaum, Oisin Roche-Lancaster, Oisin Roche-Lancaster, Oisin Roche-Lancaster, Timo Deutschbein, Timo Deutschbein, Mirko Peitzsch, Cornelia Prehn, Dirk Weismann, Mercedes Robledo, Mercedes Robledo, Jerzy Adamski, Jerzy Adamski, Jerzy Adamski, Martin Fassnacht, Martin Fassnacht, Martin Fassnacht, Meik Kunz, Meik Kunz, Matthias Kroiss, Matthias Kroiss, Matthias Kroiss
Published 2021-09-01

Impact of Extrinsic and Intrinsic Hypoxia on Catecholamine Biosynthesis in Absence or Presence of Hif2α in Pheochromocytoma Cells

by Nicole Bechmann, Isabel Poser, Verena Seifert, Christian Greunke, Martin Ullrich, Nan Qin, Axel Walch, Mirko Peitzsch, Mercedes Robledo, Karel Pacak, Jens Pietzsch, Susan Richter, Graeme Eisenhofer
Published 2019-04-01

Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer.

by Tomas Pascual, María Apellániz-Ruiz, Cristina Pernaut, Cecilia Cueto-Felgueroso, Pablo Villalba, Carlos Álvarez, Luis Manso, Lucia Inglada-Pérez, Mercedes Robledo, Cristina Rodríguez-Antona, Eva Ciruelos
Published 2017-01-01

Targeting Cyclooxygenase-2 in Pheochromocytoma and Paraganglioma: Focus on Genetic Background

by Martin Ullrich, Susan Richter, Verena Seifert, Sandra Hauser, Bruna Calsina, Ángel M. Martínez-Montes, Marjolein ter Laak, Christian G. Ziegler, Henri Timmers, Graeme Eisenhofer, Mercedes Robledo, Jens Pietzsch
Published 2019-05-01

Overexpression of miR‐483‐5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma

by 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
Published 2020-12-01

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher
Published 2015-01-01

A Novel Approach for the Identification of Pharmacogenetic Variants in <i>MT-RNR1</i> through Next-Generation Sequencing Off-Target Data

by Javier Lanillos, María Santos, Marta Carcajona, Juan María Roldan-Romero, Angel M. Martinez, Bruna Calsina, María Monteagudo, Luis Javier Leandro-García, Cristina Montero-Conde, Alberto Cascón, Paolo Maietta, Sara Alvarez, Mercedes Robledo, Cristina Rodriguez-Antona
Published 2020-07-01

Correction: An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility

by Iñigo Landa, Cesar Boullosa, Lucía Inglada-Pérez, Ana Sastre-Perona, Susana Pastor, Antonia Velázquez, Veronika Mancikova, Sergio Ruiz-Llorente, Francesca Schiavi, Ricard Marcos, Nuria Malats, Giuseppe Opocher, Ramon Diaz-Uriarte, Pilar Santisteban, Alfonso Valencia, Mercedes Robledo
Published 2013-01-01

Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging

by Natalie Rogowski-Lehmann, Aikaterini Geroula, Aleksander Prejbisz, Henri J L M Timmers, Felix Megerle, Mercedes Robledo, Martin Fassnacht, Stephanie M J Fliedner, Martin Reincke, Anthony Stell, Andrzej Januszewicz, Jacques W M Lenders, Graeme Eisenhofer, Felix Beuschlein
Published 2018-10-01

Correction: An Epistatic Interaction between the and Genes in Papillary Thyroid Cancer Susceptibility.

by Iñigo Landa, Cesar Boullosa, Lucía Inglada-Pérez, Ana Sastre-Perona, Susana Pastor, Antonia Velázquez, Veronika Mancikova, Sergio Ruiz-Llorente, Francesca Schiavi, Ricard Marcos, Nuria Malats, Giuseppe Opocher, Ramon Diaz-Uriarte, Pilar Santisteban, Alfonso Valencia, Mercedes Robledo
Published 2013-01-01

An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

by Iñigo Landa, Cesar Boullosa, Lucía Inglada-Pérez, Lucía Inglada-Pérez, Ana Sastre-Perona, Susana Pastor, Antonia Velázquez, Veronika Mancikova, Sergio Ruiz-Llorente, Francesca Schiavi, Ricard Marcos, Nuria Malats, Giuseppe Opocher, Ramon Diaz-Uriarte, Pilar Santisteban, Alfonso Valencia, Mercedes Robledo
Published 2013-01-01

Novel <i>DNMT3A</i> Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma

by Sara Mellid, Javier Coloma, Bruna Calsina, María Monteagudo, Juan M. Roldán-Romero, María Santos, Luis J. Leandro-García, Javier Lanillos, Ángel M. Martínez-Montes, Cristina Rodríguez-Antona, Cristina Montero-Conde, Joaquín Martínez-López, Rosa Ayala, Xavier Matias-Guiu, Mercedes Robledo, Alberto Cascón
Published 2020-11-01

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

by Laura Gieldon, Doreen William, Karl Hackmann, Winnie Jahn, Arne Jahn, Johannes Wagner, Andreas Rump, Nicole Bechmann, Svenja Nölting, Thomas Knösel, Volker Gudziol, Georgiana Constantinescu, Jimmy Masjkur, Felix Beuschlein, Henri JLM Timmers, Letizia Canu, Karel Pacak, Mercedes Robledo, Daniela Aust, Evelin Schröck, Graeme Eisenhofer, Susan Richter, Barbara Klink
Published 2019-06-01

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

by A. Beatriz Sánchez-Heras, Adela Castillejo, Juan D. García-Díaz, Mercedes Robledo, Alexandre Teulé, Rosario Sánchez, Ángel Zúñiga, Enrique Lastra, Mercedes Durán, Gemma Llort, Carmen Yagüe, Teresa Ramon y Cajal, Consol López San Martin, Adrià López-Fernández, Judith Balmaña, Luis Robles, José M. Mesa-Latorre, Isabel Chirivella, María Fonfria, Raquel Perea Ibañez, M. Isabel Castillejo, Inés Escandell, Luis Gomez, Pere Berbel, Jose Luis Soto
Published 2020-11-01

The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.

by Iñigo Landa, Sergio Ruiz-Llorente, Cristina Montero-Conde, Lucía Inglada-Pérez, Lucía Inglada-Pérez, Francesca Schiavi, Susanna Leskelä, Guillermo Pita, Roger Milne, Javier Maravall, Ignacio Ramos, Víctor Andía, Paloma Rodríguez-Poyo, Antonino Jara-Albarrán, Amparo Meoro, Cristina del Peso, Luis Arribas, Pedro Iglesias, Javier Caballero, Joaquín Serrano, Antonio Picó, Francisco Pomares, Gabriel Giménez, Pedro López-Mondéjar, Roberto Castello, Isabella Merante-Boschin, Maria-Rosa Pelizzo, Didac Mauricio, Giuseppe Opocher, Cristina Rodríguez-Antona, Anna González-Neira, Xavier Matías-Guiu, Pilar Santisteban, Mercedes Robledo
Published 2009-09-01

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

by 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
Published 2020-06-01