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Page 1
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L. García-Giustiniani D, et al. Heart. 2015 Jul;101(13):1047-53. doi: 10.1136/heartjnl-2014-307205. Epub 2015 May 2. Heart. 2015. PMID: 25935763 Free PMC article.
Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms.
Barriales-Villa R, Gimeno-Blanes JR, Zorio-Grima E, Ripoll-Vera T, Evangelista-Masip A, Moya-Mitjans A, Serratosa-Fernández L, Albert-Brotons DC, García-Pinilla JM, García-Pavía P. Barriales-Villa R, et al. Rev Esp Cardiol (Engl Ed). 2016 Mar;69(3):300-9. doi: 10.1016/j.rec.2015.11.029. Epub 2016 Feb 6. Rev Esp Cardiol (Engl Ed). 2016. PMID: 26856793
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L. Jiménez-Jáimez J, et al. PLoS One. 2016 Apr 21;11(4):e0153851. doi: 10.1371/journal.pone.0153851. eCollection 2016. PLoS One. 2016. PMID: 27100291 Free PMC article.
The Importance of Family-genetic Screening: The Phenotype Caused by the p.L3778F Ryanodine Receptor Mutation is Likely Less Severe Than Previously Thought.
Groba-Marco Mdel V, Benito-Bartolomé F, García-Aguado M, García-Hernández I, Gimeno-Blanes JR, Barriales-Villa R. Groba-Marco Mdel V, et al. Rev Esp Cardiol (Engl Ed). 2016 Jul;69(7):702-4. doi: 10.1016/j.rec.2016.04.007. Epub 2016 May 16. Rev Esp Cardiol (Engl Ed). 2016. PMID: 27198127 English, Spanish. No abstract available.
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.
Sabater-Molina M, Saura D, García-Molina Sáez E, González-Carrillo J, Polo L, Pérez-Sánchez I, Olmo MDC, Oliva-Sandoval MJ, Barriales-Villa R, Carbonell P, Pascual-Figal D, Gimeno JR. Sabater-Molina M, et al. Rev Esp Cardiol (Engl Ed). 2017 Feb;70(2):105-114. doi: 10.1016/j.rec.2016.06.020. Epub 2016 Oct 28. Rev Esp Cardiol (Engl Ed). 2017. PMID: 28029522 English, Spanish.
Direct oral anticoagulants in patients with hypertrophic cardiomyopathy and atrial fibrillation.
Dominguez F, Climent V, Zorio E, Ripoll-Vera T, Salazar-Mendiguchía J, García-Pinilla JM, Urbano-Moral JA, Fernández-Fernández X, Lopez-Cuenca D, Ajo-Ferrer R, Sanz-Sanchez J, Gomez-Perez Y, López-Garrido MA, Barriales-Villa R, Gimeno JR, Garcia-Pavia P. Dominguez F, et al. Int J Cardiol. 2017 Dec 1;248:232-238. doi: 10.1016/j.ijcard.2017.08.010. Epub 2017 Aug 7. Int J Cardiol. 2017. PMID: 28811092 Free article.
The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence.
Barbeito-Caamaño C, Cao-Vilariño M, Mosquera-Reboredo J, García-Pavía P, Monserrat-Iglesias L, Barriales-Villa R. Barbeito-Caamaño C, et al. Rev Esp Cardiol (Engl Ed). 2018 Oct;71(10):871-873. doi: 10.1016/j.rec.2017.08.007. Epub 2017 Sep 21. Rev Esp Cardiol (Engl Ed). 2018. PMID: 28941980 English, Spanish. No abstract available.
126 results