Zobrazeno 1 - 10
of 42
pro vyhledávání: '"familial cardiomyopathies"'
Autor:
Andrew D'Silva, Bjarke Jensen
Publikováno v:
Heart. 107(16):1344-1352
Learning objectives Left ventricular non-compaction cardiomyopathy (LVNC) remains a subject of unsettled debate between those who perceive it to be a primary genetic cardiomyopathy1 and those who believe excessive trabeculation to be a morphological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5200b6cd125d125a921b93ca917fc6b
https://doi.org/10.1136/heartjnl-2020-316945
https://doi.org/10.1136/heartjnl-2020-316945
Autor:
Salazar-Mendiguchía, Joel, Pablo Ochoa, Juan, Palomino-Doza, Julián, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M., Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E., Mogollón, M. Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier, Arsonval Jr., Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo
Publikováno v:
Heart
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
Dipòsit Digital de la UB
Universidad de Barcelona
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
Dipòsit Digital de la UB
Universidad de Barcelona
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::086e4aed9ea927857422ccc209767df5
https://doi.org/10.1136/heartjnl-2020-316913
https://doi.org/10.1136/heartjnl-2020-316913
Autor:
Valtola, Kati, Nino-Quintero, Juanita, Hedman, Marja, Lottonen-Raikaslehto, Line, Laitinen, Tomi, Maria, Maleeha, Kantola, Ilkka, Naukkarinen, Anita, Laakso, Markku, Kuusisto, Johanna
Publikováno v:
Heart
Objective To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/GLA), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. Methods The index patient, a woman in her 60s with cardiomy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a406e70b8855eebca0745fe89dfae7ec
http://europepmc.org/articles/PMC7146944
http://europepmc.org/articles/PMC7146944
Autor:
Joel, Salazar-Mendiguchía, Juan Pablo, Ochoa, Julian, Palomino-Doza, Fernando, Domínguez, Carles, Díez-López, Mohammed, Akhtar, Soraya, Ramiro-León, María M, Clemente, Antonia, Pérez-Cejas, María, Robledo, Iria, Gómez-Díaz, María Luisa, Peña-Peña, Vicente, Climent, Francisco, Salmerón-Martínez, Celestino, Hernández, Pablo E, García-Granja, M Victoria, Mogollón, Ivonne, Cárdenas-Reyes, Marcos, Cicerchia, Diego, García-Giustiniani, Arsonval, Lamounier, Belén, Gil-Fournier, Felícitas, Díaz-Flores, Rafael, Salguero, Luis, Santomé, Petros, Syrris, Montse, Olivé, Pablo, García-Pavía, Martín, Ortiz-Genga, Perry M, Elliott, Lorenzo, Monserrat, Juan Pablo, Trujillo-Quintero
Publikováno v:
Heart
Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c8a508c2449acab35307ea7a3fbb05a
https://pubmed.ncbi.nlm.nih.gov/32451364
https://pubmed.ncbi.nlm.nih.gov/32451364
Autor:
Rita Rinaldi, Maria Letizia Bacchi Reggiani, Maddalena Graziosi, Raffaello Ditaranto, Giovanna Lattanzi, Matteo Ziacchi, Giovanni Vitale, Mauro Biffi, Giuseppe Boriani, Ferdinando Pasquale, Luciano Potena, Massimiliano Lorenzini, Alessandra Berardini, Claudio Rapezzi, Sofia Martin Suarez, Elena Biagini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Objective To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. Methods We prospectively analyzed 40 consecutive patients with a di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d4c4f1694e746e141cb412726e4c9a
https://doi.org/10.1186/s13023-019-1245-8
https://doi.org/10.1186/s13023-019-1245-8
Publikováno v:
Heart, 105(5), 357-362. BMJ Publishing Group
Heart
Heart
Peripartum cardiomyopathy (PPCM) is a rare form of pregnancy-associated heart failure and is considered to be a diagnosis of exclusion. There are many hypotheses on the aetiology of PPCM; however, the exact pathophysiological mechanism remains unknow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0b668a9f9add93e74c690a035550674
https://pure.eur.nl/en/publications/e0562927-71ea-4851-8bc4-b802890b62ed
https://pure.eur.nl/en/publications/e0562927-71ea-4851-8bc4-b802890b62ed
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Andrea Perkan, Giancarlo Vitrella, Marco Merlo, Rossana Bussani, Michele Moretti, Gianfranco Sinagra, Francesca Brun
Publikováno v:
Scopus-Elsevier
In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de3b7a8af82503f59baa31c11bb99c1
https://hdl.handle.net/11368/2445126
https://hdl.handle.net/11368/2445126