Résultats de la recherche - Cascón, Alberto
- Résultat(s) 1 - 19 résultats de 19
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Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation par Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina
Publié 2018Texte -
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Pathological and genetic characterization of bilateral adrenomedullary hyperplasia in a patient with germline MAX mutation par 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
Publié 2017Texte -
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Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma par 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
Publié 2008Texte -
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A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data par 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
Publié 2020Texte -
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Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy par 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
Publié 2012Texte -
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Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma par 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
Publié 2020Texte -
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Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma par 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
Publié 2018Texte -
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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma par 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
Publié 2022Texte -
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Concomitant Medications and Risk of Chemotherapy‐Induced Peripheral Neuropathy par 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
Publié 2018Texte -
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Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2 par 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.
Publié 2009Texte -
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Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas par 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
Publié 2010Texte -
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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas par 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
Publié 2019Texte -
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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas par 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
Publié 2019Texte -
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Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients par 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
Publié 2018Texte -
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Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma par 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
Publié 2021Texte -
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PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics par 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
Publié 2017Texte -
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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 par 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
Publié 2019Texte