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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Lamounier Junior A, Guitián González A, Rodríguez Vilela A, Repáraz Andrade A, Rubio Alcaide Á, Berta Sousa A, Benito López C, Alonso García D, Fernández Ferro G, Cruz I, Cárdenas Reyes IJ, Salazar-Mendiguchía García J, Larrañaga-Moreira JM, Ochoa JP, Palomino-Doza J, de la Higuera Romero L, Nicolás Cicerchia M, Restrepo Córdoba MA, Peña-Peña ML, Noël Brögger M, Loureiro M, Mogollón Jiménez MV, Bilbao Quesada R, Franco Gutiérrez R, García Hernández S, Ripoll-Vera T, Fernández X, Azevedo O, García Pavía P, Lopes LR, Ortiz M, Brito D, Barriales-Villa R, Monserrat Iglesias L. Lamounier Junior A, et al. Among authors: ortiz m. Rev Esp Cardiol (Engl Ed). 2022 Mar;75(3):242-250. doi: 10.1016/j.rec.2021.01.001. Epub 2021 Feb 26. Rev Esp Cardiol (Engl Ed). 2022. PMID: 33642254 English, Spanish.
Brugada syndrome.
Barriales-Villa R, Ortiz MF, García DA. Barriales-Villa R, et al. Rev Esp Cardiol. 2010 May;63(5):620; author reply 620. doi: 10.1016/s1885-5857(10)70131-6. Rev Esp Cardiol. 2010. PMID: 20450864 Free article. No abstract available.
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
Ripoll Vera T, Monserrat Iglesias L, Hermida Prieto M, Ortiz M, Rodriguez Garcia I, Govea Callizo N, Gómez Navarro C, Rosell Andreo J, Gámez Martínez JM, Pons Lladó G, Cremer Luengos D, Torres Marqués J. Ripoll Vera T, et al. Among authors: ortiz m. Int J Cardiol. 2010 Nov 19;145(2):405-407. doi: 10.1016/j.ijcard.2010.04.032. Epub 2010 Jun 14. Int J Cardiol. 2010. PMID: 20542340
Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.
Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M. Oliva-Sandoval MJ, et al. Among authors: ortiz m. Heart. 2010 Dec;96(24):1980-4. doi: 10.1136/hrt.2010.200402. Heart. 2010. PMID: 21088121
1,834 results