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[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].
Laredo R, Monserrat L, Hermida-Prieto M, Fernández X, Rodríguez I, Cazón L, Alvariño I, Dumont C, Piñón P, Peteiro J, Bouzas B, Castro-Beiras A. Laredo R, et al. Among authors: monserrat l. Rev Esp Cardiol. 2006 Oct;59(10):1008-18. doi: 10.1157/13093977. Rev Esp Cardiol. 2006. PMID: 17125710 Free article. Spanish.
A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
Ortiz MF, Rodríguez-García MI, Hermida-Prieto M, Fernández X, Veira E, Barriales-Villa R, Castro-Beiras A, Monserrat L. Ortiz MF, et al. Among authors: monserrat l. Rev Esp Cardiol. 2009 May;62(5):572-5. doi: 10.1016/s1885-5857(09)71841-9. Rev Esp Cardiol. 2009. PMID: 19406073 Free article. English, Spanish.
Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.
Nieto-Marín P, Jiménez-Jáimez J, Tinaquero D, Alfayate S, Utrilla RG, Rodríguez Vázquez Del Rey MDM, Perin F, Sarquella-Brugada G, Monserrat L, Brugada J, Tercedor L, Tamargo J, Delpón E, Caballero R. Nieto-Marín P, et al. Among authors: monserrat l. Rev Esp Cardiol (Engl Ed). 2019 Apr;72(4):324-332. doi: 10.1016/j.rec.2018.03.012. Rev Esp Cardiol (Engl Ed). 2019. PMID: 29691127 English, Spanish.
First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene.
Barriales-Villa R, Ochoa JP, Santomé-Collazo JL, Mosquera-Reboredo J, Cao-Vilariño M, Monserrat L. Barriales-Villa R, et al. Among authors: monserrat l. Rev Esp Cardiol (Engl Ed). 2019 Jul;72(7):585-587. doi: 10.1016/j.rec.2018.06.013. Epub 2018 Jul 18. Rev Esp Cardiol (Engl Ed). 2019. PMID: 30029973 English, Spanish. No abstract available.
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L. Ochoa JP, et al. Among authors: monserrat l. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001. J Am Coll Cardiol. 2018. PMID: 30442288 Free article.
Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.
Piqueras-Flores J, Trujillo-Quintero JP, Frías-García R, González-Marín MA, Monserrat L, Hernández-Herrera G. Piqueras-Flores J, et al. Among authors: monserrat l. Rev Esp Cardiol (Engl Ed). 2019 Oct;72(10):868-870. doi: 10.1016/j.rec.2019.01.014. Epub 2019 May 1. Rev Esp Cardiol (Engl Ed). 2019. PMID: 31053375 English, Spanish. No abstract available.
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants.
Perin F, Trujillo-Quintero JP, Jimenez-Jaimez J, Rodríguez-Vázquez Del Rey MDM, Monserrat L, Tercedor L. Perin F, et al. Among authors: monserrat l. Rev Esp Cardiol (Engl Ed). 2019 Nov;72(11):978-980. doi: 10.1016/j.rec.2019.05.002. Epub 2019 Jun 8. Rev Esp Cardiol (Engl Ed). 2019. PMID: 31182298 English, Spanish. No abstract available.
167 results