Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sofía Cuenca"'
Autor:
Raquel Yotti, Javier Bermejo, Ana Isabel Fernandez, Cristina Gómez, Constancio Medrano, Irene Méndez, Maria Ángeles Espinosa, Sofía Cuenca, Rebeca Lorca, José Fernando Rodríguez, Marta García-Montero, Silvia Vilches, Nélida Vázquez, Reyes Álvarez
Publikováno v:
Open Heart, Vol 8, Iss 2 (2021)
Externí odkaz:
https://doaj.org/article/f2ebf40c67ea4225b97c7ec6c7a44264
Autor:
Irene Mademont-Soler, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, Irene Méndez, Anna Iglesias, Bernat Del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Oscar Campuzano, Ferran Picó, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo Garcia-Pavia, Esther Gonzalez-Lopez, Laura Padron-Barthe, Aranzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josep Brugada, Francisco Fernandez-Aviles, Ramon Brugada
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0181465 (2017)
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants
Externí odkaz:
https://doaj.org/article/9f5be2534dbf49598b80bc70f35fc1cd
Publikováno v:
Revista Española de Cardiología (English Edition). 75:690-692
Autor:
Sofía Cuenca, Raquel Yotti, María Ángeles Espinosa, María Tamargo, Javier Bermejo, Cristina Gómez, Silvia Vilches, Nélida Vázquez, Rebeca Lorca, Reyes Álvarez, Irene Méndez, F. Fernandez-Aviles, José Fernando Rodríguez, Marta García-Montero, Ana I. Fernández, Constancio Medrano
Publikováno v:
Open Heart
Open Heart, Vol 8, Iss 2 (2021)
Open Heart, Vol 8, Iss 2 (2021)
ObjectiveOne of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the pathogenicity of genetic variants and to establish genotype/phenotype correlations. This study aimed to: (1) demonstrate that MYBPC3 c.2149–1G>A is a founder pa
Autor:
Jens Mogensen, Ainhoa Robles Mezcua, Larraitz Gaztañaga Arantzamendi, Itziar Solla Ruiz, Diego Rangel-Sousa, Javier Limeres Freire, Francisco Bermúdez-Jiménez, Juan Jiménez-Jáimez, Jorge Alvarez-Rubio, Philippe Charron, Raquel Yotti, María Luisa Peña-Peña, Mohammed M Akhtar, José Rodríguez-Palomares, Estibaliz Zamarreño Golvano, Sofía Cuenca, Zofia T. Bilińska, Xabier Arana Achaga, Flavie Ader, Marina Navarro Peñalver, María Alejandra Restrepo-Córdoba, Vincent Climent, Mathias Gautel, Soren K Nielsen, Massimiliano Lorenzini, Esther Zorio, Menelaos Pavlou, Torsten Bloch Rasmussen, Roberto Barriales-Villa, Pilar Molina, Julián Palomino-Doza, José M. Larrañaga-Moreira, Perry M. Elliott, Diego Segura-Rodríguez, María I. García-Álvarez, Hans Eiskjær, Constantinos O'Mahony, María Sabater-Molina, Martin Ortiz-Genga, Juan Pablo Ochoa, José Manuel García-Pinilla, Tomás Ripoll-Vera, Grażyna Truszkowska, Pablo García-Pavía
Publikováno v:
JAMA Cardiol
JAMA Cardiology
JAMA Cardiology, American Medical Association 2021, ⟨10.1001/jamacardio.2021.1106⟩
Akhtar, M M, Lorenzini, M, Pavlou, M, Ochoa, J P, O'Mahony, C, Restrepo-Cordoba, M A, Segura-Rodriguez, D, Bermúdez-Jiménez, F, Molina, P, Cuenca, S, Ader, F, Larrañaga-Moreira, J M, Sabater-Molina, M, Garcia-Alvarez, M I, Arantzamendi, L G, Truszkowska, G, Ortiz-Genga, M, Ruiz, I S, Nielson, S K, Rasmussen, T B, Robles Mezcua, A, Alvarez-Rubio, J, Eiskjaer, H, Gautel, M, Garcia-Pinilla, J M, Ripoll-Vera, T, Mogensen, J, Limeres Freire, J, Rodríguez-Palomares, J F, Peña-Peña, M L, Rangel-Sousa, D, Palomino-Doza, J, Arana Achaga, X, Bilinska, Z, Zamarreño Golvano, E, Climent, V, Peñalver, M N, Barriales-Villa, R, Charron, P, Yotti, R, Zorio, E, Jiménez-Jáimez, J, Garcia-Pavia, P, Elliott, P M & European Genetic Cardiomyopathies Initiative Investigators 2021, ' Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure ', JAMA cardiology, vol. 6, no. 8, pp. 891-901 . https://doi.org/10.1001/jamacardio.2021.1106
Akhtar, M M, Lorenzini, M, Pavlou, M, Ochoa, J P, O'Mahony, C, Restrepo-Cordoba, M A, Segura-Rodriguez, D, Bermúdez-Jiménez, F, Molina, P, Cuenca, S, Ader, F, Larrañaga-Moreira, J M, Sabater-Molina, M, Garcia-Alvarez, M I, Arantzamendi, L G, Truszkowska, G, Ortiz-Genga, M, Ruiz, I S, Nielsen, S K, Rasmussen, T B, Robles Mezcua, A, Alvarez-Rubio, J, Eiskjaer, H, Gautel, M, Garcia-Pinilla, J M, Ripoll-Vera, T, Mogensen, J, Limeres Freire, J, Rodríguez-Palomares, J F, Peña-Peña, M L, Rangel-Sousa, D, Palomino-Doza, J, Arana Achaga, X, Bilinska, Z, Zamarreño Golvano, E, Climent, V, Peñalver, M N, Barriales-Villa, R, Charron, P, Yotti, R, Zorio, E, Jiménez-Jáimez, J, Garcia-Pavia, P, Elliott, P M & European Genetic Cardiomyopathies Initiative Investigators 2021, ' Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure ', JAMA Cardiology, vol. 6, no. 8, 1106, pp. 891-901 . https://doi.org/10.1001/jamacardio.2021.1106
JAMA Cardiology
JAMA Cardiology, American Medical Association 2021, ⟨10.1001/jamacardio.2021.1106⟩
Akhtar, M M, Lorenzini, M, Pavlou, M, Ochoa, J P, O'Mahony, C, Restrepo-Cordoba, M A, Segura-Rodriguez, D, Bermúdez-Jiménez, F, Molina, P, Cuenca, S, Ader, F, Larrañaga-Moreira, J M, Sabater-Molina, M, Garcia-Alvarez, M I, Arantzamendi, L G, Truszkowska, G, Ortiz-Genga, M, Ruiz, I S, Nielson, S K, Rasmussen, T B, Robles Mezcua, A, Alvarez-Rubio, J, Eiskjaer, H, Gautel, M, Garcia-Pinilla, J M, Ripoll-Vera, T, Mogensen, J, Limeres Freire, J, Rodríguez-Palomares, J F, Peña-Peña, M L, Rangel-Sousa, D, Palomino-Doza, J, Arana Achaga, X, Bilinska, Z, Zamarreño Golvano, E, Climent, V, Peñalver, M N, Barriales-Villa, R, Charron, P, Yotti, R, Zorio, E, Jiménez-Jáimez, J, Garcia-Pavia, P, Elliott, P M & European Genetic Cardiomyopathies Initiative Investigators 2021, ' Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure ', JAMA cardiology, vol. 6, no. 8, pp. 891-901 . https://doi.org/10.1001/jamacardio.2021.1106
Akhtar, M M, Lorenzini, M, Pavlou, M, Ochoa, J P, O'Mahony, C, Restrepo-Cordoba, M A, Segura-Rodriguez, D, Bermúdez-Jiménez, F, Molina, P, Cuenca, S, Ader, F, Larrañaga-Moreira, J M, Sabater-Molina, M, Garcia-Alvarez, M I, Arantzamendi, L G, Truszkowska, G, Ortiz-Genga, M, Ruiz, I S, Nielsen, S K, Rasmussen, T B, Robles Mezcua, A, Alvarez-Rubio, J, Eiskjaer, H, Gautel, M, Garcia-Pinilla, J M, Ripoll-Vera, T, Mogensen, J, Limeres Freire, J, Rodríguez-Palomares, J F, Peña-Peña, M L, Rangel-Sousa, D, Palomino-Doza, J, Arana Achaga, X, Bilinska, Z, Zamarreño Golvano, E, Climent, V, Peñalver, M N, Barriales-Villa, R, Charron, P, Yotti, R, Zorio, E, Jiménez-Jáimez, J, Garcia-Pavia, P, Elliott, P M & European Genetic Cardiomyopathies Initiative Investigators 2021, ' Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure ', JAMA Cardiology, vol. 6, no. 8, 1106, pp. 891-901 . https://doi.org/10.1001/jamacardio.2021.1106
Importance: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia.Objective: To determine the frequency of and risk factors as
Autor:
Domingo A. Pascual-Figal, Pablo García-Pavía, Sofía Cuenca, Alfonso Jurado, Enrique Lara-Pezzi, Clara Salas, Javier Segovia, Laura Padron-Barthe, Luis Alonso-Pulpón, Juan Ramón Gimeno-Blanes, Lorenzo Monserrat, Carlos Vilches, Maria J. Ruiz-Cano, José J. Grillo, Iria Gomez-Diaz
Publikováno v:
The Journal of Heart and Lung Transplantation. 35:625-635
Background Dilated cardiomyopathy (DCM) is the most frequent cause of heart transplantation (HTx). The genetic basis of DCM among patients undergoing HTx has been poorly characterized. We sought to determine the genetic basis of familial DCM HTx and
Autor:
J Limeres, Pablo García-Pavía, Juan Pablo Ochoa, Mohammed M Akhtar, Rocío Toro, Diego Rangel-Sousa, Folkert W. Asselbergs, José Manuel García-Pinilla, Zofia T. Bilińska, Sofía Cuenca, P. Charron, T Morris Hey, Roberto Barriales-Villa, Perry M. Elliott, F. Dominguez Rodriguez
Publikováno v:
European Heart Journal. 39
Autor:
Fernando Domínguez, Sofía Cuenca, Zofia Bilińska, Rocío Toro, Eric Villard, Roberto Barriales-Villa, Juan Pablo Ochoa, Folkert Asselbergs, Arjan Sammani, Maria Franaszczyk, Mohammed Akhtar, Maria José Coronado-Albi, Diego Rangel-Sousa, Jose F. Rodriguez-Palomares, Juan Jiménez-Jáimez, José Manuel Garcia-Pinilla, Tomás Ripoll-Vera, Maria Victoria Mogollón-Jiménez, Ana Fontalba-Romero, Dolores Garcia-Medina, Julian Palomino-Doza, David de Gonzalo-Calvo, Marcos Cicerchia, Joel Salazar-Mendiguchia, Clara Salas, Sabine Pankuweit, Thomas Morris Hey, Jens Mogensen, Paul J. Barton, Philippe Charron, Perry Elliott, Pablo Garcia-Pavia, Hans Eiskjær, Roberto Barriales, Xusto Fernández Fernández, Lorenzo Monserrat, Maria Victoria Mogollón, Tomás Ripoll, Pascale Richard, Julian Palomino Doza, Ana Fontalba, Luis Alonso-Pulpón, Marta Cobo-Marcos, Manuel Gómez-Bueno, Esther González-López, Aitor Hernández-Hernández, Francisco José Hernández-Pérez, Ángela López-Sainz, Alejandra Restrepo-Córdoba, Javier Segovia-Cubero, Rocio Toro, Félix Rosa Longobardo, Javier Limeres, Jose Manuel Garcia-Pinilla, Miguel A. López-Garrido, Juan Jiménez-Jaimez, Diego Rangel Sousa, Maria Luisa Peña, Thomas Morris-Hey, Stuart A. Cook, William Midwinter, Angharad M. Roberts, James S. Ware, Roddy Walsh, Perry M. Elliott, Luis Rocha-Lopes, Konstantinos Savvatis, Petros Syrris, Ewa Michalak, Rafal Ploski, Malgorzata Sobieszczanska-Malek, Annette Baas, Dennis Dooijes
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
European Genetic Cardiomyopathies Initiative Investigators 2018, ' Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations ', Journal of the American College of Cardiology, vol. 72, no. 20, pp. 2471-2481 . https://doi.org/10.1016/j.jacc.2018.08.2181
Journal of the American College of Cardiology, 72(20), 2471-2481. Elsevier USA
Journal of the American College of Cardiology, 72(20), 2471. Elsevier USA
instname
European Genetic Cardiomyopathies Initiative Investigators 2018, ' Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations ', Journal of the American College of Cardiology, vol. 72, no. 20, pp. 2471-2481 . https://doi.org/10.1016/j.jacc.2018.08.2181
Journal of the American College of Cardiology, 72(20), 2471-2481. Elsevier USA
Journal of the American College of Cardiology, 72(20), 2471. Elsevier USA
[Background] The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c004afefe87b9030135940c3623712d
http://hdl.handle.net/10261/176842
http://hdl.handle.net/10261/176842
Autor:
Catarina Allegue, José Ignacio González-Hevia, Sofía Cuenca, María Ángeles Espinosa, Alexandra Pérez-Serra, Monica Coll, Irene Méndez, Carles Ferrer-Costa, Francisco Fernández-Avilés, Ferran Picó, Anna Iglesias, Helena Riuró, Oscar Campuzano, Laura Padron-Barthe, Patricia Álvarez, Aranzazu Díaz de Bustamante, Raquel Yotti, Sergio Castillo, Josep Brugada, Ana Isabel Fernandez-Avila, Irene Mademont-Soler, Jesus Mates, Esther Gonzalez-Lopez, Bernat del Olmo, Ramon Brugada, María Teresa Darnaude, Pablo García-Pavía
Publikováno v:
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
PLoS One, 2017, vol. 12, núm. 8, p. e0181465
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
PLoS ONE, Vol 12, Iss 8, p e0181465 (2017)
PLoS ONE
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Recercat. Dipósit de la Recerca de Catalunya
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
instname
PLoS One, 2017, vol. 12, núm. 8, p. e0181465
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
PLoS ONE, Vol 12, Iss 8, p e0181465 (2017)
PLoS ONE
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Recercat. Dipósit de la Recerca de Catalunya
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
Introduction Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0889fdf9c1660b7e3ae409048fac06e
http://zaguan.unizar.es/record/61977
http://zaguan.unizar.es/record/61977
Autor:
Juan Francisco Oteo, José Antonio Fernández-Díaz, Sofía Cuenca, Javier Goicolea, Isabel Zegrí, Arturo García-Touchard
Publikováno v:
Revista Española de Cardiología. 68:349-351