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Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Circ Genom Precis Med. 2024 Apr;17(2):e004404. doi: 10.1161/CIRCGEN.123.004404. Epub 2024 Feb 14.
Circ Genom Precis Med. 2024.
PMID: 38353104
Free PMC article.
Emerging Themes in Genetics of Hypertrophic Cardiomyopathy: Current Status and Clinical Application.
García-Hernández S, de la Higuera Romero L, Ochoa JP, McKenna WJ.
García-Hernández S, et al. Among authors: de la higuera romero l.
Can J Cardiol. 2024 May;40(5):742-753. doi: 10.1016/j.cjca.2024.01.011. Epub 2024 Jan 18.
Can J Cardiol. 2024.
PMID: 38244984
Free article.
Review.
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ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.
Bermúdez-Jiménez FJ, Carriel V, Santos-Mateo JJ, Fernández A, García-Hernández S, Ramos KA, Piqueras-Flores J, Cabrera-Romero E, Barriales-Villa R, de la Higuera Romero L, Alcalá López JE, Gimeno Blanes JR, Sánchez-Porras D, Campos F, Alaminos M, Oyonarte-Ramírez JM, Álvarez M, Tercedor L, Brodehl A, Jiménez-Jáimez J.
Bermúdez-Jiménez FJ, et al. Among authors: de la higuera romero l.
Rev Esp Cardiol (Engl Ed). 2023 May;76(5):301-311. doi: 10.1016/j.rec.2022.08.002. Epub 2022 Aug 8.
Rev Esp Cardiol (Engl Ed). 2023.
PMID: 35952944
English, Spanish.
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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: de la higuera romero l.
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.
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