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Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome
Roldan-Romero, Juan María, Santos, María, Lanillos, Javier, Caleiras, Eduardo, Anguera, Georgia, Maroto, Pablo, García-Donas, Jesús, de Velasco, Guillermo, Martinez-Montes, Ángel Mario, Calsina, Bruna, Monteagudo, María, Letón, Rocío, Leandro-García, Luis Javier, Montero-Conde, Cristina, Cascón, Alberto, Robledo, Mercedes, Rodriguez-Antona, Cristina
Published in Modern pathology (01.12.2020)
Published in Modern pathology (01.12.2020)
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Journal Article
Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas
López-Jiménez, Elena, Gómez-López, Gonzalo, Leandro-García, L. Javier, Muñoz, Iván, Schiavi, Francesca, Montero-Conde, Cristina, de Cubas, Aguirre A., Ramires, Ricardo, Landa, Iñigo, Leskelä, Susanna, Maliszewska, Agnieszka, Inglada-Pérez, Lucía, de la Vega, Leticia, Rodríguez-Antona, Cristina, Letón, Rocío, Bernal, Carmen, de Campos, José M., Diez-Tascón, Cristina, Fraga, Mario F., Boullosa, Cesar, Pisano, David G., Opocher, Giuseppe, Robledo, Mercedes, Cascón, Alberto
Published in Molecular endocrinology (Baltimore, Md.) (01.12.2010)
Published in Molecular endocrinology (Baltimore, Md.) (01.12.2010)
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Journal Article
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Comino-Méndez, Iñaki, Gracia-Aznárez, Francisco J, Schiavi, Francesca, Landa, Iñigo, Leandro-García, Luis J, Letón, Rocío, Honrado, Emiliano, Ramos-Medina, Rocío, Caronia, Daniela, Pita, Guillermo, Gómez-Graña, Álvaro, de Cubas, Aguirre A, Inglada-Pérez, Lucía, Maliszewska, Agnieszka, Taschin, Elisa, Bobisse, Sara, Pica, Giuseppe, Loli, Paola, Hernández-Lavado, Rafael, Díaz, José A, Gómez-Morales, Mercedes, González-Neira, Anna, Roncador, Giovanna, Rodríguez-Antona, Cristina, Benítez, Javier, Mannelli, Massimo, Opocher, Giuseppe, Robledo, Mercedes, Cascón, Alberto
Published in Nature genetics (01.07.2011)
Published in Nature genetics (01.07.2011)
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Journal Article
Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
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
Published in Clinical cancer research (15.10.2017)
Published in Clinical cancer research (15.10.2017)
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Journal Article
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas
Castro-Vega, Luis Jaime, Buffet, Alexandre, De Cubas, Aguirre A., Cascón, Alberto, Menara, Mélanie, Khalifa, Emmanuel, Amar, Laurence, Azriel, Sharona, Bourdeau, Isabelle, Chabre, Olivier, Currás-Freixes, Maria, Franco-Vidal, Valérie, Guillaud-Bataille, Marine, Simian, Christophe, Morin, Aurélie, Letón, Rocío, Gómez-Graña, Álvaro, Pollard, Patrick J., Rustin, Pierre, Robledo, Mercedes, Favier, Judith, Gimenez-Roqueplo, Anne-Paule
Published in Human molecular genetics (01.05.2014)
Published in Human molecular genetics (01.05.2014)
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Journal Article
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
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, Álvaro, Inglada-Pérez, Lucía, Mancikova, Veronika, Rodríguez-Antona, Cristina, Mannelli, Massimo, Robledo, Mercedes, Cascón, Alberto
Published in Human molecular genetics (01.06.2013)
Published in Human molecular genetics (01.06.2013)
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Journal Article
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene
Cascón, Alberto, Comino-Méndez, Iñaki, Currás-Freixes, María, de Cubas, Aguirre A, Contreras, Laura, Richter, Susan, Peitzsch, Mirko, Mancikova, Veronika, Inglada-Pérez, Lucía, Pérez-Barrios, Andrés, Calatayud, María, Azriel, Sharona, Villar-Vicente, Rosa, Aller, Javier, Setién, Fernando, Moran, Sebastian, Garcia, Juan F, Río-Machín, Ana, Letón, Rocío, Gómez-Graña, Álvaro, Apellániz-Ruiz, María, Roncador, Giovanna, Esteller, Manel, Rodríguez-Antona, Cristina, Satrústegui, Jorgina, Eisenhofer, Graeme, Urioste, Miguel, Robledo, Mercedes
Published in JNCI : Journal of the National Cancer Institute (01.05.2015)
Published in JNCI : Journal of the National Cancer Institute (01.05.2015)
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Journal Article
Concomitant Medications and Risk of Chemotherapy‐Induced Peripheral Neuropathy
Sánchez‐Barroso, Lara, Apellaniz‐Ruiz, Maria, Gutiérrez‐Gutiérrez, Gerardo, Santos, María, Roldán‐Romero, Juan M., Curras, Maria, Remacha, Laura, Calsina, Bruna, Calvo, Isabel, Sereno, María, Merino, María, García‐Donas, Jesús, Castelo, Beatriz, Guerra, Eva, Letón, Rocio, Montero‐Conde, Cristina, Cascón, Alberto, Inglada‐Pérez, Lucía, Robledo, Mercedes, Rodríguez‐Antona, Cristina
Published in The oncologist (Dayton, Ohio) (01.08.2019)
Published in The oncologist (Dayton, Ohio) (01.08.2019)
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Journal Article
Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma
Santos, María, Lanillos, Javier, Roldan-Romero, Juan María, Caleiras, Eduardo, Montero-Conde, Cristina, Cascón, Alberto, Climent, Miguel Angel, Anguera, Georgia, Hernando, Susana, Laínez, Nuria, Robledo, Mercedes, Robles, Luis, de Velasco, Guillermo, García-Donas, Jesús, Rodriguez-Antona, Cristina
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas
Remacha, Laura, Pirman, David, Mahoney, Christopher E., Coloma, Javier, Calsina, Bruna, Currás-Freixes, Maria, Letón, Rocío, Torres-Pérez, Rafael, Richter, Susan, Pita, Guillermo, Herráez, Belén, Cianchetta, Giovanni, Honrado, Emiliano, Maestre, Lorena, Urioste, Miguel, Aller, Javier, García-Uriarte, Óscar, Gálvez, María Ángeles, Luque, Raúl M., Lahera, Marcos, Moreno-Rengel, Cristina, Eisenhofer, Graeme, Montero-Conde, Cristina, Rodríguez-Antona, Cristina, Llorca, Óscar, Smolen, Gromoslaw A., Robledo, Mercedes, Cascón, Alberto
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
Gain-of-function mutations in DNMT3A in patients with paraganglioma
Remacha, Laura, Currás-Freixes, Maria, Torres-Ruiz, Raúl, Schiavi, Francesca, Torres-Pérez, Rafael, Calsina, Bruna, Letón, Rocío, Comino-Méndez, Iñaki, Roldán-Romero, Juan M, Montero-Conde, Cristina, Santos, María, Pérez, Lucía Inglada, Pita, Guillermo, Alonso, María R., Honrado, Emiliano, Pedrinaci, Susana, Crespo-Facorro, Benedicto, Percesepe, Antonio, Falcioni, Maurizio, Rodríguez-Perales, Sandra, Korpershoek, Esther, Ramón-Maiques, Santiago, Opocher, Giuseppe, Rodríguez-Antona, Cristina, Robledo, Mercedes, Cascón, Alberto
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients
Cascón, Alberto, Pita, Guillermo, Burnichon, Nelly, Landa, Iñigo, López-Jiménez, Elena, Montero-Conde, Cristina, Leskelä, Susanna, Leandro-García, Luis Javier, Letón, Rocío, Rodríguez-Antona, Cristina, Díaz, José Ángel, López-Vidriero, Emilio, González-Neira, Anna, Velasco, Ana, Matias-Guiu, Xavier, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes
Published in The journal of clinical endocrinology and metabolism (01.05.2009)
Published in The journal of clinical endocrinology and metabolism (01.05.2009)
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Journal Article
Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition
Roldán‐Romero, Juan M., Valdivia, Carlos, Santos, Maria, Lanillos, Javier, Maroto, Pablo, Anguera, Georgia, Calsina, Bruna, Martinez‐Montes, Angel, Monteagudo, María, Mellid, Sara, Leandro‐García, Luis J., Montero‐Conde, Cristina, Cascón, Alberto, Roncador, Giovanna, Coloma, Javier, Robledo, Mercedes, Rodriguez‐Antona, Cristina
Published in International journal of cancer (15.09.2023)
Published in International journal of cancer (15.09.2023)
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Journal Article
Defective function of α-ketoglutarate dehydrogenase exacerbates mitochondrial ATP deficits during complex I deficiency
Piroli, Gerardo G., Manuel, Allison M., McCain, Richard S., Smith, Holland H., Ozohanics, Oliver, Mellid, Sara, Cox, J. Hunter, Cotham, William E., Walla, Michael D., Cascón, Alberto, Ambrus, Attila, Frizzell, Norma
Published in Redox biology (01.11.2023)
Published in Redox biology (01.11.2023)
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Journal Article
Expression of Homo Sapiens (Hsa)-miR-139-5p as a Clinically Feasible Prognostic Marker for Differentiated Thyroid Cancer
Martínez-Puente, Natalia, Ruz-Caracuel, Ignacio, Leandro-García, Luis J., Pian-Arias, Héctor, Vega-Corral, Zaira, Letón, Rocío, Radu, Roberta, Berrizbeitia, Mariolga, Mellid, Sara, Reglero, Clara, Salazar-Hidalgo, Milton E., Arroba, Ester, Díaz-Talavera, Alberto, Marazuela, Mónica, Benito-Berlinches, Amparo, González-García, Irene, Campos-Mena, Sandra, Lozano-Escario, María D., Guadalix, Sonsoles, Calatayud, María, Pérez-Campos, Ana, Lahera, Marcos, Cascón, Alberto, Galofré, Juan C., Currás-Freixes, Maria, Caleiras, Eduardo J., Valderrabano, Pablo, Robledo, Mercedes, Montero-Conde, Cristina
Published in Laboratory investigation (01.10.2025)
Published in Laboratory investigation (01.10.2025)
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Journal Article
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients
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
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma
Monteagudo, María, Calsina, Bruna, Salazar-Hidalgo, Milton E., Martínez-Montes, Ángel M., Piñeiro-Yáñez, Elena, Caleiras, Eduardo, Martín, Maria Carmen, Rodríguez-Perales, Sandra, Letón, Rocío, Gil, Eduardo, Buffet, Alexandre, Burnichon, Nelly, Fernández-Sanromán, Ángel, Díaz-Talavera, Alberto, Mellid, Sara, Arroba, Ester, Reglero, Clara, Martínez-Puente, Natalia, Roncador, Giovanna, del Olmo, Maria Isabel, Corrales, Pedro José Pinés, Oliveira, Cristina Lamas, Álvarez-Escolá, Cristina, Gutiérrez, María Calatayud, López-Fernández, Adrià, García, Nuria Palacios, Regojo, Rita María, Díaz, Luis Robles, Laorden, Nuria Romero, Guadarrama, Oscar Sanz, Bechmann, Nicole, Beuschlein, Felix, Canu, Letizia, Eisenhofer, Graeme, Fassnacht, Martin, Nölting, Svenja, Quinkler, Marcus, Rapizzi, Elena, Remde, Hanna, Timmers, Henri J., Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Rodriguez-Antona, Cristina, Currás-Freixes, Maria, Al-Shahrour, Fatima, Cascón, Alberto, Leandro-García, Luis J., Montero-Conde, Cristina, Robledo, Mercedes
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.12.2024)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.12.2024)
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Journal Article
Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma
Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C., López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D., Galvez, María A., Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S., Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M. J., Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, Cascón, Alberto
Published in Frontiers in endocrinology (Lausanne) (25.01.2023)
Published in Frontiers in endocrinology (Lausanne) (25.01.2023)
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Journal Article
PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma
Roldan‐Romero, Juan M., Beuselinck, Benoit, Santos, María, Rodriguez‐Moreno, Juan F., Lanillos, Javier, Calsina, Bruna, Gutierrez, Ana, Tang, Karin, Lainez, Nuria, Puente, Javier, Castellano, Daniel, Esteban, Emilio, Climent, Miguel A., Arranz, Jose A., Albersen, Maarten, Oudard, Stephane, Couchy, Gabrielle, Caleiras, Eduardo, Montero‐Conde, Cristina, Cascón, Alberto, Robledo, Mercedes, Rodríguez‐Antona, Cristina, García‐Donas, Jesús
Published in International journal of cancer (01.03.2020)
Published in International journal of cancer (01.03.2020)
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Journal Article
Whole-Exome Sequencing Reveals Defective CYP3A4 Variants Predictive of Paclitaxel Dose-Limiting Neuropathy
Apellániz-Ruiz, María, Lee, Mi-Young, Sánchez-Barroso, Lara, Gutiérrez-Gutiérrez, Gerardo, Calvo, Isabel, García-Estévez, Laura, Sereno, María, García-Donás, Jesús, Castelo, Beatriz, Guerra, Eva, Leandro-García, Luis J., Cascón, Alberto, Johansson, Inger, Robledo, Mercedes, Ingelman-Sundberg, Magnus, Rodríguez-Antona, Cristina
Published in Clinical cancer research (15.01.2015)
Published in Clinical cancer research (15.01.2015)
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Journal Article