Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Thomas Morris-Hey"'
Autor:
Thomas Morris Hey, MD, PhD, Søren Kristian Nielsen, MD, Ulrik Eriksen, MD, PhD, Frederikke Hansen, MD, Jens Mogensen, MD, DMsc, PhD
Publikováno v:
CJC Open, Vol 4, Iss 9, Pp 813-815 (2022)
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial condition that gradually affects the central vision. In the current case report, we present 2 relatives with LHON due to a pathogenic variant within ND1 with a clinical phenotype resembl
Externí odkaz:
https://doaj.org/article/6ec0d46dc45d4375b68b95cd8dd3389c
Publikováno v:
Hey, T M, Nielsen, S K, Eriksen, U, Hansen, F & Mogensen, J 2022, ' Leber's Hereditary Optic Neuropathy and Hypertrophic Cardiomyopathy ', CJC open, vol. 4, no. 9, pp. 813-815 . https://doi.org/10.1016/j.cjco.2022.06.005
Leber's hereditary optic neuropathy (LHON) is a mitochondrial condition that gradually affects the central vision. In the current case report, we present 2 relatives with LHON due to a pathogenic variant within ND1 with a clinical phenotype resemblin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfaf06d96287b8499940926e6477f7e
https://vbn.aau.dk/ws/files/488782042/Hey_et_al._2022_._Leber_s_Hereditary_Optic_Neuropathy_and_Hypertrophic_Cardiomyopathy.pdf
https://vbn.aau.dk/ws/files/488782042/Hey_et_al._2022_._Leber_s_Hereditary_Optic_Neuropathy_and_Hypertrophic_Cardiomyopathy.pdf
Autor:
Thomas Morris Hey, Jens Mogensen
Publikováno v:
CJC Open. 5:36
Autor:
Mads Malik Aagaard, Jens Mogensen, Torsten Bloch Rasmussen, Jan Haas, Thomas Morris Hey, Henning Mølgaard, Maria Harbo, Hans Eiskjær, Soren K Nielsen, Trine Madsen, Benjamin Meder, Jacob E. Møller
Publikováno v:
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Nielsen, S K, Haas, J, Meder, B, Møller, J E, Eiskjær, H & Mogensen, J 2020, ' Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives ', Circulation. Heart Failure, vol. 13, no. 10, e006701 . https://doi.org/10.1161/CIRCHEARTFAILURE.119.006701
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Nielsen, S K, Haas, J, Meder, B, Møller, J E, Eiskjær, H & Mogensen, J 2020, ' Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives ', Circulation: Heart Failure, vol. 13, no. 10, e006701 . https://doi.org/10.1161/CIRCHEARTFAILURE.119.006701
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Nielsen, S K, Haas, J, Meder, B, Møller, J E, Eiskjær, H & Mogensen, J 2020, ' Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives ', Circulation: Heart Failure, vol. 13, no. 10, e006701 . https://doi.org/10.1161/CIRCHEARTFAILURE.119.006701
Background: It was the aim to investigate the frequency and genetic basis of dilated cardiomyopathy (DCM) among relatives of index patients with unexplained heart failure at a tertiary referral center. Methods: Clinical investigations were performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccdb1803fc112060783acaed0ea5a6bc
https://pure.au.dk/portal/da/publications/clinical-and-genetic-investigations-of-109-index-patients-with-dilated-cardiomyopathy-and-445-of-their-relatives(51e984fd-2288-4c82-b544-6a21a62d2aff).html
https://pure.au.dk/portal/da/publications/clinical-and-genetic-investigations-of-109-index-patients-with-dilated-cardiomyopathy-and-445-of-their-relatives(51e984fd-2288-4c82-b544-6a21a62d2aff).html
Autor:
Diane Fatkin, Guillem Casas, Julián Palomino-Doza, Marcos Cicerchia, Massimiliano Lorenzini, Ainhoa Robles-Mezcua, María Luisa Peña-Peña, Thomas Morris Hey, Pablo García-Pavía, Mayte Basurte, Zofia T. Bilińska, José M. Larrañaga-Moreira, Mohammed M Akhtar, Gianfranco Sinagra, Juan R. Gimeno, José Rodríguez-Palomares, María Alejandra Restrepo-Córdoba, Perry M. Elliott, Maria Franaszczyk, Eduardo Villacorta, Jens Mogensen, Diego Rangel-Sousa, Renee Johnson, Maria Sabater Molina, Javier Limeres Freire, Davide Stolfo, Roberto Barriales-Villa, Juan Pablo Ochoa, Gemma Laucey, Matteo Dal Ferro, Lorenzo Monserrat, José Manuel García Pinilla, María Gallego-Delgado, Luis R. Lopes
Publikováno v:
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universitat Autònoma de Barcelona
Akhtar, M M, Lorenzini, M, Cicerchia, M, Ochoa, J P, Hey, T M, Sabater Molina, M, Restrepo-Cordoba, M A, Dal Ferro, M, Stolfo, D, Johnson, R, Larrañaga-Moreira, J M, Robles-Mezcua, A, Rodriguez-Palomares, J F, Casas, G, Peña-Peña, M L, Lopes, L R, Gallego-Delgado, M, Franaszczyk, M, Laucey, G, Rangel-Sousa, D, Basurte, M, Palomino-Doza, J, Villacorta, E, Bilinska, Z, Limeres Freire, J, Garcia Pinilla, J M, Barriales-Villa, R, Fatkin, D, Sinagra, G, Garcia-Pavia, P, Gimeno, J R, Mogensen, J, Monserrat, L & Elliott, P M 2020, ' Clinical phenotypes and prognosis of dilated cardiomyopathy caused by truncating variants in the TTN Gene ', Circulation: Heart Failure, vol. 13, no. 10, pp. 496-508 . https://doi.org/10.1161/CIRCHEARTFAILURE.119.006832
Universitat Autònoma de Barcelona
Akhtar, M M, Lorenzini, M, Cicerchia, M, Ochoa, J P, Hey, T M, Sabater Molina, M, Restrepo-Cordoba, M A, Dal Ferro, M, Stolfo, D, Johnson, R, Larrañaga-Moreira, J M, Robles-Mezcua, A, Rodriguez-Palomares, J F, Casas, G, Peña-Peña, M L, Lopes, L R, Gallego-Delgado, M, Franaszczyk, M, Laucey, G, Rangel-Sousa, D, Basurte, M, Palomino-Doza, J, Villacorta, E, Bilinska, Z, Limeres Freire, J, Garcia Pinilla, J M, Barriales-Villa, R, Fatkin, D, Sinagra, G, Garcia-Pavia, P, Gimeno, J R, Mogensen, J, Monserrat, L & Elliott, P M 2020, ' Clinical phenotypes and prognosis of dilated cardiomyopathy caused by truncating variants in the TTN Gene ', Circulation: Heart Failure, vol. 13, no. 10, pp. 496-508 . https://doi.org/10.1161/CIRCHEARTFAILURE.119.006832
Background: Truncating variants in the TTN gene (TTNtv) are the commonest cause of heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes of TTNtv carriers. Methods: Five hundred thirty-seven individuals (61% men; 317
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe72221ccd3d66b4e2be6da31816559
https://www.ahajournals.org/doi/pdf/10.1161/CIRCHEARTFAILURE.119.006832
https://www.ahajournals.org/doi/pdf/10.1161/CIRCHEARTFAILURE.119.006832
Autor:
Simon Sedej, Torsten Bloch Rasmussen, Fernando Domínguez, Jose Maria Garcia-Aznar, Jesús Vázquez, Ana Briceño, Jesús Piqueras-Flores, Jorge Alegre-Cebollada, Giovanna Giovinazzo, Elías Herrero-Galán, Enrique Calvo, Carmen Suay-Corredera, David Giganti, Mahmoud Abdellatif, Juan A. Bernal, Inmaculada Vivo-Ortega, Francisco Gutiérrez-Agüera, Natalia Vicente, Belén Bornstein, Esther Gonzalez-Lopez, Thomas Morris Hey, Enrique Lara-Pezzi, Diana Velázquez-Carreras, Peter P. Rainer, Ángel Fernández-Trasancos, Laura Lalaguna, Belén Prados, Inés Martínez-Martín, Raul Perez-Jimenez, Pablo García-Pavía, Juan Pablo Ochoa, Claudio Badía Careaga, Maria Rosaria Pricolo, Elena Bonzón-Kulichenko, Marta Cobo-Marcos, Cristina Sánchez-González
The protein titin determines cardiomyocyte contraction and truncating variants in the titin gene (TTN) are the most common cause of dilated cardiomyopathy (DCM). Different to truncations, missense variants inTTNare currently classified as variants of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c2571241a29bddee113f7f8e5cf49fd
https://doi.org/10.1101/2020.09.05.282913
https://doi.org/10.1101/2020.09.05.282913
Autor:
Henning Mølgaard, Jens Mogensen, Peter Bross, Abdelaziz Beqqali, Rune Isak Dupont Birkler, Rasha Abdelkadhem Al-Saaidi, Johan Palmfeldt, Hans Eiskjær, Torsten Bloch Rasmussen, Peter H. Nissen, Ulrik Baandrup, Yigal M. Pinto, Thomas Morris Hey
Publikováno v:
European Journal of Heart Failure. 20:1404-1412
Aims Lamin A/C mutations are generally believed to be associated with a severe prognosis. The aim of this study was to investigate disease expression in three affected families carrying different LMNA missense mutations. Furthermore, the potential mo
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:
Charlotte Madsen, Axel Brandes, Thomas Morris Hey, Søren Bak, Axel Cosmus Pyndt Diederichsen, Kenneth Bruun Pedersen, Niels Christian Sandgaard
Publikováno v:
Bruun Pedersen, K, Madsen, C, Sandgaard, N C, Hey, T M, Diederichsen, A C P, Bak, S & Brandes, A 2019, ' Left atrial volume index and left ventricular global longitudinal strain predict new-onset atrial fibrillation in patients with transient ischemic attack ', International Journal of Cardiovascular Imaging, vol. 35, no. 7, pp. 1277-1286 . https://doi.org/10.1007/s10554-019-01586-w
This study aimed to investigate different echocardiographic parameters for predicting atrial fibrillation (AF) in patients with transient ischemic attack (TIA). Echocardiography was performed in 110 patients (median age 65.8 years, 53% males) with TI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cd13362e76251562a133b2f9e264af
https://portal.findresearcher.sdu.dk/da/publications/d03a2b4b-b090-4350-a887-eccc39ed3e5b
https://portal.findresearcher.sdu.dk/da/publications/d03a2b4b-b090-4350-a887-eccc39ed3e5b
Autor:
Torsten Bloch Rasmussen, Thomas Morris Hey, Mads Malik Aagaard, Trine Madsen, Jens Mogensen, Maria Harbo, Hans Eiskjær, Jacob E. Møller, Henning Mølgaard
Publikováno v:
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Møller, J E, Eiskjær, H & Mogensen, J 2019, ' Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy ', Circulation. Heart Failure, vol. 12, no. 3, e005700 . https://doi.org/10.1161/CIRCHEARTFAILURE.118.005700
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Møller, J E, Eiskjær, H & Mogensen, J 2019, ' Pathogenic RBM20-variants are associated with a severe disease expression in male patients with dilated cardiomyopathy ', Circulation: Heart Failure, vol. 12, no. 3, e005700 . https://doi.org/10.1161/CIRCHEARTFAILURE.118.005700
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Møller, J E, Eiskjær, H & Mogensen, J 2019, ' Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy ', Circulation. Heart Failure, vol. 12, no. 3, e005700, pp. 1-14 . https://doi.org/10.1161/CIRCHEARTFAILURE.118.005700
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Møller, J E, Eiskjær, H & Mogensen, J 2019, ' Pathogenic RBM20-variants are associated with a severe disease expression in male patients with dilated cardiomyopathy ', Circulation: Heart Failure, vol. 12, no. 3, e005700 . https://doi.org/10.1161/CIRCHEARTFAILURE.118.005700
Hey, T M, Rasmussen, T B, Madsen, T, Aagaard, M M, Harbo, M, Mølgaard, H, Møller, J E, Eiskjær, H & Mogensen, J 2019, ' Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy ', Circulation. Heart Failure, vol. 12, no. 3, e005700, pp. 1-14 . https://doi.org/10.1161/CIRCHEARTFAILURE.118.005700
Background As pathogenic variants in the gene for RBM20 appear with a frequency of 6% among Danish patients with dilated cardiomyopathy (DCM), it was the aim to investigate the associated disease expression in affected families. Methods and Results C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1d16a39346a9968231e4309df0d7af5
https://findresearcher.sdu.dk:8443/ws/files/155849429/Pathogenic_RBM20_variants_are_Associated_With_a_Severe_Disease.pdf
https://findresearcher.sdu.dk:8443/ws/files/155849429/Pathogenic_RBM20_variants_are_Associated_With_a_Severe_Disease.pdf