Search Results - "Robledo, Mercedes"

MAX and MYC: A Heritable Breakup by CASCON, Alberto, ROBLEDO, Mercedes

“…The overexpression of MYC, which occurs in many tumors, dramatically disrupts the equilibrium between activation and repression of the oncogenic…”
Get full text

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 by Lenders, Jacques W.M., Kerstens, Michiel N., Amar, Laurence, Prejbisz, Aleksander, Robledo, Mercedes, Taieb, David, Pacak, Karel, Crona, Joakim, Zelinka, Tomáš, Mannelli, Massimo, Deutschbein, Timo, Timmers, Henri J.L.M., Castinetti, Frederic, Dralle, Henning, Widimský, Jřri, Gimenez-Roqueplo, Anne-Paule, Eisenhofer, Graeme

“…Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and…”
Get full text

Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study by Hescot, Segolene, Curras-Freixes, Maria, Deutschbein, Timo, van Berkel, Anouk, Vezzosi, Delphine, Amar, Laurence, de la Fouchardière, Christelle, Valdes, Nuria, Riccardi, Fernando, Do Cao, Christine, Bertherat, Jerome, Goichot, Bernard, Beuschlein, Felix, Drui, Delphine, Canu, Letizia, Niccoli, Patricia, Laboureau, Sandrine, Tabarin, Antoine, Leboulleux, Sophie, Calsina, Bruna, Libé, Rossella, Faggiano, Antongiulio, Schlumberger, Martin, Borson-Chazot, Francoise, Mannelli, Massimo, Gimenez-Roqueplo, Anne-Paule, Caron, Philippe, Timmers, Henri J L M, Fassnacht, Martin, Robledo, Mercedes, Borget, Isabelle, Baudin, Eric

“…Abstract Background Malignant pheochromocytoma and paraganglioma (MPP) are characterized by prognostic heterogeneity. Our objective was to look for prognostic…”
Get full text

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas by Pamporaki, Christina, Hamplova, Barbora, Peitzsch, Mirko, Prejbisz, Aleksander, Beuschlein, Felix, Timmers, Henri J.L.M., Fassnacht, Martin, Klink, Barbara, Lodish, Maya, Stratakis, Constantine A., Huebner, Angela, Fliedner, Stephanie, Robledo, Mercedes, Sinnott, Richard O., Januszewicz, Andrzej, Pacak, Karel, Eisenhofer, Graeme

“…Abstract Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared with…”
Get full text

Life-cycle assessment of a photovoltaic system in Catalonia (Spain) by Sumper, Andreas, Robledo-García, Mercedes, Villafáfila-Robles, Roberto, Bergas-Jané, Joan, Andrés-Peiró, Juan

“…The life-cycle analysis (LCA) of photovoltaic (PV) systems is an important tool to quantify the potential environmental advantage of using solar technologies…”
Get full text

Association studies in thyroid cancer susceptibility: are we on the right track? by Landa, Iñigo, Robledo, Mercedes

“…It is widely accepted that thyroid cancer is strongly determined by the individual genetic background. In this regard, it is expected that sporadic thyroid…”
Get full text

Sino-European Differences in the Genetic Landscape and Clinical Presentation of Pheochromocytoma and Paraganglioma by Jiang, Jingjing, Zhang, Jing, Pang, Yingxian, Bechmann, Nicole, Li, Minghao, Monteagudo, Maria, Calsina, Bruna, Gimenez-Roqueplo, Anne-Paule, Nölting, Svenja, Beuschlein, Felix, Fassnacht, Martin, Deutschbein, Timo, Timmers, Henri J L M, Åkerström, Tobias, Crona, Joakim, Quinkler, Marcus, Fliedner, Stephanie M J, Liu, Yujun, Guo, Jianming, Li, Xiaomu, Guo, Wei, Hou, Yingyong, Wang, Cikui, Zhang, Liang, Xiao, Qiao, Liu, Longfei, Gao, Xin, Burnichon, Nelly, Robledo, Mercedes, Eisenhofer, Graeme

“…Abstract Context Pheochromocytomas and paragangliomas (PPGLs) are characterized by distinct genotype-phenotype relationships according to studies largely…”
Get full text

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma by BURNICHON, Nelly, CASCON, Alberto, DE QUIROS, Sandra Bernaldo, BERTHERAT, Jerome, BIGNON, Yves-Jean, BLOK, Marinus J, BOBISSE, Sara, BORREGO, Salud, CASTELLANO, Maurizio, CHANSON, Philippe, CHIARA, Maria-Dolores, CORSSMIT, Eleonora P. M, SCHIAVI, Francesca, GIACCHE, Mara, DE KRIJGER, Ronald R, ERCOLINO, Tonino, GIRERD, Xavier, GOMEZ-GARCIA, Encarna B, GOMEZ-GRANA, Alvaro, GUILHEM, Isabelle, HES, Frederik J, HONRADO, Emiliano, KORPERSHOEK, Esther, PAES MORALES, Nicole, LENDERS, Jacques W. M, LETON, Rocio, MENSENKAMP, Arjen R, MERLO, Anna, MORI, Luigi, MURAT, Arnaud, PIERRE, Peggy, PLOUIN, Pierre-François, PRODANOV, Tamara, QUESADA-CHARNECO, Miguel, COMINO-MENDEZ, Iñaki, NANQIN, RAPIZZI, Elena, RAYMOND, Victoria, REISCH, Nicole, RONCADOR, Giovanna, RUIZ-FERRER, Macarena, SCHILLO, Frank, STEGMANN, Alexander P. A, SUAREZ, Carlos, TASCHIN, Elisa, ABERMIL, Nasséra, TIMMERS, Henri J. L. M, TOPS, Carli M. J, URIOSTE, Miguel, BEUSCHLEIN, Felix, PACAK, Karel, MANNELLI, Massimo, DAHIA, Patricia L. M, OPOCHER, Giuseppe, EISENHOFER, Graeme, GIMENEZ-ROQUEPLO, Anne-Paule, INGLADA-PEREZ, Lucia, DE CUBAS, Aguirre A, AMAR, Laurence, BARONTINI, Marta

“…Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a…”
Get full text

Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas by Remacha, Laura, Comino-Méndez, Iñaki, Richter, Susan, Contreras, Laura, Currás-Freixes, María, Pita, Guillermo, Letón, Rocío, Galarreta, Antonio, Torres-Pérez, Rafael, Honrado, Emiliano, Jiménez, Scherezade, Maestre, Lorena, Moran, Sebastian, Esteller, Manel, Satrústegui, Jorgina, Eisenhofer, Graeme, Robledo, Mercedes, Cascón, Alberto

“…Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead…”
Get full text

Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study by Garcia-Donas, Jesus, MD, Esteban, Emilio, MD, Leandro-García, Luis Javier, BSc, Castellano, Daniel E, MD, del Alba, Aranzazu González, MD, Climent, Miguel Angel, MD, Arranz, José Angel, MD, Gallardo, Enrique, MD, Puente, Javier, MD, Bellmunt, Joaquim, MD, Mellado, Begoña, MD, Martínez, Esther, MD, Moreno, Fernando, MD, Font, Albert, MD, Robledo, Mercedes, PhD, Rodríguez-Antona, Cristina, Dr

“…Summary Background Sunitinib is a tyrosine kinase inhibitor with proven efficacy in renal-cell carcinoma, but some patients do not respond or need dose…”
Get full text

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma by Calsina, Bruna, Piñeiro-Yáñez, Elena, Martínez-Montes, Ángel M., Caleiras, Eduardo, Fernández-Sanromán, Ángel, Monteagudo, María, Torres-Pérez, Rafael, Fustero-Torre, Coral, Pulgarín-Alfaro, Marta, Gil, Eduardo, Letón, Rocío, Jiménez, Scherezade, García-Martín, Santiago, Martin, Maria Carmen, Roldán-Romero, Juan María, Lanillos, Javier, Mellid, Sara, Santos, María, Díaz-Talavera, Alberto, Rubio, Ángeles, González, Patricia, Hernando, Barbara, Bechmann, Nicole, Dona, Margo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Regojo, Rita M., Aller, Javier, Del Olmo-Garcia, Maria Isabel, López-Fernández, Adrià, Fliedner, Stephanie M. J., Rapizzi, Elena, Fassnacht, Martin, Beuschlein, Felix, Quinkler, Marcus, Toledo, Rodrigo A., Mannelli, Massimo, Timmers, Henri J., Eisenhofer, Graeme, Rodríguez-Perales, Sandra, Domínguez, Orlando, Macintyre, Geoffrey, Currás-Freixes, Maria, Rodríguez-Antona, Cristina, Cascón, Alberto, Leandro-García, Luis J., Montero-Conde, Cristina, Roncador, Giovanna, García-García, Juan Fernando, Pacak, Karel, Al-Shahrour, Fátima, Robledo, Mercedes

“…The mechanisms triggering metastasis in pheochromocytoma/paraganglioma are unknown, hindering therapeutic options for patients with metastatic tumors (mPPGL)…”
Get full text

Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma by Karakaya, Sinan, Gunnesson, Lisa, Elias, Erik, Martos-Salvo, Paula, Robledo, Mercedes, Nilsson, Ola, Wängberg, Bo, Abel, Frida, Påhlman, Sven, Muth, Andreas, Mohlin, Sofie

“…Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors. PGLs can further be divided into sympathetic (sPGLs) and head-and-neck…”
Get full text

The miR-200 family controls β-tubulin III expression and is associated with paclitaxel-based treatment response and progression-free survival in ovarian cancer patients by Leskelä, Susanna, Leandro-García, Luis J, Mendiola, Marta, Barriuso, Jorge, Inglada-Pérez, Lucía, Muñoz, Iván, Martínez-Delgado, Beatriz, Redondo, Andrés, de Santiago, Javier, Robledo, Mercedes, Hardisson, David, Rodríguez-Antona, Cristina

“…Ovarian cancer remains one of the leading causes of cancer deaths. Thus, new biomarkers predictive of response to the standard paclitaxel–carboplatin treatment…”
Get full text

Hsa‐miR‐139‐5p is a prognostic thyroid cancer marker involved in HNRNPF‐mediated alternative splicing by Montero‐Conde, Cristina, Graña‐Castro, Osvaldo, Martín‐Serrano, Guillermo, Martínez‐Montes, Ángel M., Zarzuela, Eduardo, Muñoz, Javier, Torres‐Perez, Rafael, Pita, Guillermo, Cordero‐Barreal, Alfonso, Leandro‐García, Luis J., Letón, Rocío, López de Silanes, Isabel, Guadalix, Sonsoles, Pérez‐Barrios, Andrés, Hawkins, Federico, Guerrero‐Álvarez, Almudena, Álvarez‐Escolá, Cristina, Regojo‐Zapata, Rita M., Calsina, Bruna, Remacha, Laura, Roldán‐Romero, Juan M., Santos, María, Lanillos, Javier, Jordá, Mireia, Riesco‐Eizaguirre, Garcilaso, Zafon, Carles, González‐Neira, Anna, Blasco, Maria A., Al‐Shahrour, Fátima, Rodríguez‐Antona, Cristina, Cascón, Alberto, Robledo, Mercedes

“…It is critical to identify biomarkers and functional networks associated with aggressive thyroid cancer to anticipate disease progression and facilitate…”
Get full text

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis by Comino-Méndez, Iñaki, de Cubas, Aguirre A, Bernal, Carmen, Álvarez-Escolá, Cristina, Sánchez-Malo, Carolina, Ramírez-Tortosa, César L, Pedrinaci, Susana, Rapizzi, Elena, Ercolino, Tonino, Bernini, Giampaolo, Bacca, Alessandra, Letón, Rocío, Pita, Guillermoó, Alonso, María R, Leandro-García, Luis J, Gómez-Graña, Alvaro, Inglada-Pérez, Lucía, Mancikova, Veronika, Rodríguez-Antona, Cristina, Mannelli, Massimo, Robledo, Mercedes, Cascón, Alberto

“…Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively…”
Get full text

Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer by Pascual, Tomas, Apellániz-Ruiz, María, Pernaut, Cristina, Cueto-Felgueroso, Cecilia, Villalba, Pablo, Álvarez, Carlos, Manso, Luis, Inglada-Pérez, Lucia, Robledo, Mercedes, Rodríguez-Antona, Cristina, Ciruelos, Eva

“…Metastatic breast cancer (MBC) progressing after endocrine therapy frequently activates PI3K/AKT/mTOR pathway. The BOLERO-2 trial showed that…”
Get full text

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients by Calsina, Bruna, Currás-Freixes, Maria, Buffet, Alexandre, Pons, Tirso, Contreras, Laura, Letón, Rocío, Comino-Méndez, Iñaki, Remacha, Laura, Calatayud, María, Obispo, Berta, Martin, Antoine, Cohen, Regis, Richter, Susan, Balmaña, Judith, Korpershoek, Esther, Rapizzi, Elena, Deutschbein, Timo, Vroonen, Laurent, Favier, Judith, de Krijger, Ronald R., Fassnacht, Martin, Beuschlein, Felix, Timmers, Henri J., Eisenhofer, Graeme, Mannelli, Massimo, Pacak, Karel, Satrústegui, Jorgina, Rodríguez-Antona, Cristina, Amar, Laurence, Cascón, Alberto, Dölker, Nicole, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes

“…MDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the…”
Get full text

REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial by Martin-Broto, Javier, Valverde, Claudia, Hindi, Nadia, Vincenzi, Bruno, Martinez-Trufero, Javier, Grignani, Giovanni, Italiano, Antoine, Lavernia, Javier, Vallejo, Ana, Tos, Paolo Dei, Le Loarer, Francois, Gonzalez-Campora, Ricardo, Ramos, Rafael, Hernández-Jover, Diana, Gutierrez, Antonio, Serrano, Cesar, Monteagudo, Maria, Letón, Rocio, Robledo, Mercedes, Moura, David S, Martin-Ruiz, Marta, López-Guerrero, Jose A, Cruz, Julia, Fernandez-Serra, Antonio, Blay, Jean-Yves, Fumagalli, Elena, Martinez-Marin, Virginia

“…Approximately 15% of adult GIST patients harbor tumors that are wild-type for KIT and PDGFRα genes (KP-wtGIST). These tumors usually have SDH deficiencies,…”
Get full text

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma by Bayley, Jean-Pierre, Dr, Kunst, Henricus PM, MD, Cascon, Alberto, PhD, Sampietro, Maria Lourdes, PhD, Gaal, José, MD, Korpershoek, Esther, BSc, Hinojar-Gutierrez, Adolfo, MD, Timmers, Henri JLM, MD, Hoefsloot, Lies H, PhD, Hermsen, Mario A, PhD, Suárez, Carlos, Prof, Hussain, A Karim, Ing, Vriends, Annette HJT, MD, Hes, Frederik J, MD, Jansen, Jeroen C, MD, Tops, Carli M, PhD, Corssmit, Eleonora P, MD, de Knijff, Peter, Prof, Lenders, Jacques WM, Prof, Cremers, Cor WRJ, Prof, Devilee, Peter, Prof, Dinjens, Winand NM, PhD, de Krijger, Ronald R, MD, Robledo, Mercedes, PhD

“…Summary Background Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC , and SDHB …”
Get full text

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers by de Cubas, Aguirre A, Korpershoek, Esther, Inglada-Pérez, Lucia, Letouzé, Eric, Currás-Freixes, Maria, Fernández, Agustin F, Comino-Méndez, Iñaki, Schiavi, Francesca, Mancikova, Veronika, Eisenhofer, Graeme, Mannelli, Massimo, Opocher, Guiseppe, Timmers, Henri, Beuschlein, Felix, de Krijger, Ronald, Cascon, Alberto, Rodríguez-Antona, Cristina, Fraga, Mario F, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes

“…Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors, associated with highly variable postoperative evolution. The scarcity of reliable…”
Get full text