תוצאות חיפוש - Cascón, Alberto

Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration מאת Cascón, Alberto, Remacha, Laura, Calsina, Bruna, Robledo, Mercedes

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A Major Secreted Elastase Is Essential for Pathogenicity of Aeromonas hydrophila מאת Cascón, Alberto, Yugueros, Javier, Temprano, Alejandro, Sánchez, María, Hernanz, Carmen, Luengo, José María, Naharro, Germán

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Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation מאת Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina

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Pathological and genetic characterization of bilateral adrenomedullary hyperplasia in a patient with germline MAX mutation מאת Romanet, Pauline, Guerin, Carole, Pedini, Pascal, Essamet, Wassim, Castinetti, Frédéric, Sebag, Fréderic, Roche, Philippe, Cascon, Alberto, Tischler, Arthur S., Pacak, Karel, Barlier, Anne, Taïeb, David

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Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma מאת Margetts, Caroline D E, Morris, Mark, Astuti, Dewi, Gentle, Dean C, Cascon, Alberto, McRonald, Fiona E, Catchpoole, Daniel, Robledo, Mercedes, Neumann, Hartmut P H, Latif, Farida, Maher, Eamonn R

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A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data מאת Lanillos, Javier, Santos, María, Carcajona, Marta, Roldan-Romero, Juan María, Martinez, Angel M., Calsina, Bruna, Monteagudo, María, Leandro-García, Luis Javier, Montero-Conde, Cristina, Cascón, Alberto, Maietta, Paolo, Alvarez, Sara, Robledo, Mercedes, Rodriguez-Antona, Cristina

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Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy מאת Leandro-García, Luis J., Leskelä, Susanna, Jara, Carlos, Gréen, Henrik, Åvall-Lundqvist, Elisabeth, Wheeler, Heather E., Dolan, M. Eileen, Inglada-Perez, Lucia, Maliszewska, Agnieszka, de Cubas, Aguirre A., Comino-Méndez, Iñaki, Mancikova, Veronika, Cascón, Alberto, Robledo, Mercedes, Rodríguez-Antona, Cristina

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Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma מאת Mellid, Sara, Coloma, Javier, Calsina, Bruna, Monteagudo, María, Roldán-Romero, Juan M., Santos, María, Leandro-García, Luis J., Lanillos, Javier, Martínez-Montes, Ángel M., Rodríguez-Antona, Cristina, Montero-Conde, Cristina, Martínez-López, Joaquín, Ayala, Rosa, Matias-Guiu, Xavier, Robledo, Mercedes, Cascón, Alberto

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Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma מאת Richter, Susan, Gieldon, Laura, Pang, Ying, Peitzsch, Mirko, Huynh, Thanh, Leton, Rocio, Viana, Bruna, Ercolino, Tonino, Mangelis, Anastasios, Rapizzi, Elena, Menschikowski, Mario, Aust, Daniela, Kroiss, Matthias, Beuschlein, Felix, Gudziol, Volker, Timmers, Henri JLM, Lenders, Jacques, Mannelli, Massimo, Cascon, Alberto, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme, Klink, Barbara

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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma מאת Ben Aim, Laurene, Maher, Eamonn R, Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J, Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A, Dahia, Patricia L, Robledo, Mercedes, Bayley, Jean Pierre, Burnichon, Nelly

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Concomitant Medications and Risk of Chemotherapy‐Induced Peripheral Neuropathy מאת 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

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Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2 מאת Boedeker, Carsten C., Erlic, Zoran, Richard, Stéphane, Kontny, Udo, Gimenez-Roqueplo, Anne-Paule, Cascon, Alberto, Robledo, Mercedes, de Campos, José M., van Nederveen, Francien H., de Krijger, Ronald R., Burnichon, Nelly, Gaal, José, Walter, Martin A., Reschke, Kirsten, Wiech, Thorsten, Weber, Johannes, Rückauer, Klaus, Plouin, Pierre Francois, Darrouzet, Vincent, Giraud, Sophie, Eng, Charis, Neumann, Hartmut P. H.

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Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas מאת 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

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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas מאת 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

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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas מאת 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

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Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients מאת Calsina, Bruna, Currás-Freixes, Maria, Buffet, Alexandre, Pons, Tirso, Contreras, Laura, Letón, Rocío, Méndez, Iñaki Comino, 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

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Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma מאת Monteagudo, María, Martínez, Paula, Leandro-García, Luis J., Martínez-Montes, Ángel M., Calsina, Bruna, Pulgarín-Alfaro, Marta, Díaz-Talavera, Alberto, Mellid, Sara, Letón, Rocío, Gil, Eduardo, Pérez-Martínez, Manuel, Megías, Diego, Torres-Ruiz, Raúl, Rodriguez-Perales, Sandra, González, Patricia, Caleiras, Eduardo, Jiménez-Villa, Scherezade, Roncador, Giovanna, Álvarez-Escolá, Cristina, Regojo, Rita M., Calatayud, María, Guadalix, Sonsoles, Currás-Freixes, Maria, Rapizzi, Elena, Canu, Letizia, Nölting, Svenja, Remde, Hanna, Fassnacht, Martin, Bechmann, Nicole, Eisenhofer, Graeme, Mannelli, Massimo, Beuschlein, Felix, Quinkler, Marcus, Rodríguez-Antona, Cristina, Cascón, Alberto, Blasco, María A., Montero-Conde, Cristina, Robledo, Mercedes

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PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics מאת Currás-Freixes, Maria, Piñeiro-Yañez, Elena, Montero-Conde, Cristina, Apellániz-Ruiz, María, Calsina, Bruna, Mancikova, Veronika, Remacha, Laura, Richter, Susan, Ercolino, Tonino, Rogowski-Lehmann, Natalie, Deutschbein, Timo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Lamas, Cristina, Aller, Javier, Sastre-Marcos, Julia, Lázaro, Conxi, Galofré, Juan C., Patiño-García, Ana, Meoro-Avilés, Amparo, Balmaña-Gelpi, Judith, De Miguel-Novoa, Paz, Balbín, Milagros, Matías-Guiu, Xavier, Letón, Rocío, Inglada-Pérez, Lucía, Torres-Pérez, Rafael, Roldán-Romero, Juan M., Rodríguez-Antona, Cristina, Fliedner, Stephanie M.J., Opocher, Giuseppe, Pacak, Karel, Korpershoek, Esther, de Krijger, Ronald R., Vroonen, Laurent, Mannelli, Massimo, Fassnacht, Martin, Beuschlein, Felix, Eisenhofer, Graeme, Cascón, Alberto, Al-Shahrour, Fátima, Robledo, Mercedes

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Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma מאת Calsina, Bruna, Castro-Vega, Luis Jaime, Torres-Pérez, Rafael, Inglada-Pérez, Lucía, Currás-Freixes, Maria, Roldán-Romero, Juan María, Mancikova, Veronika, Letón, Rocío, Remacha, Laura, Santos, María, Burnichon, Nelly, Lussey-Lepoutre, Charlotte, Rapizzi, Elena, Graña, Osvaldo, Álvarez-Escolá, Cristina, de Cubas, Aguirre A, Lanillos, Javier, Cordero-Barreal, Alfonso, Martínez-Montes, Ángel M, Bellucci, Alexandre, Amar, Laurence, Fernandes-Rosa, Fabio Luiz, Calatayud, María, Aller, Javier, Lamas, Cristina, Sastre-Marcos, Júlia, Canu, Letizia, Korpershoek, Esther, Timmers, Henri J, Lenders, Jacques WM, Beuschlein, Felix, Fassnacht-Capeller, Martin, Eisenhofer, Graeme, Mannelli, Massimo, Al-Shahrour, Fátima, Favier, Judith, Rodríguez-Antona, Cristina, Cascón, Alberto, Montero-Conde, Cristina, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes

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