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Page 1
Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.
Escobar-Lopez L, Ochoa JP, Mirelis JG, Espinosa MÁ, Navarro M, Gallego-Delgado M, Barriales-Villa R, Robles-Mezcua A, Basurte-Elorz MT, Gutiérrez García-Moreno L, Climent V, Jiménez-Jaimez J, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, García-Álvarez A, Brion M, Ripoll-Vera T, Palomino-Doza J, Tirón C, Idiazabal U, Brögger MN, García-Hernández S, Restrepo-Córdoba MA, Gonzalez-Lopez E, Méndez I, Sabater M, Villacorta E, Larrañaga-Moreira JM, Abecia A, Fernández AI, García-Pinilla JM, Rodríguez-Palomares JF, Gimeno-Blanes JR, Bayes-Genis A, Lara-Pezzi E, Domínguez F, Garcia-Pavia P. Escobar-Lopez L, et al. J Am Coll Cardiol. 2021 Oct 26;78(17):1682-1699. doi: 10.1016/j.jacc.2021.08.039. J Am Coll Cardiol. 2021. PMID: 34674813 Free article.
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. 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.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
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: garcia hernandez s. 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.
IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís B, Tapia-Torres M, García-Soidán A, Hernández-Brito E, Martínez-Saavedra MT, Lorenzo-Salazar JM, García-Hernández S, Van Den Rym A, Mayani K, Govantes-Rodríguez JV, Gervais A, Bastard P, Puel A, Casanova JL, Flores C, Pérez de Diego R, Rodríguez-Gallego C. García-Solís B, et al. Among authors: garcia hernandez s. J Allergy Clin Immunol. 2024 Apr 4:S0091-6749(24)00330-0. doi: 10.1016/j.jaci.2024.03.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38579942
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Amor-Salamanca A, Santana Rodríguez A, Rasoul H, Rodríguez-Palomares JF, Moldovan O, Hey TM, Delgado MG, Cuenca DL, de Castro Campos D, Basurte-Elorz MT, Macías-Ruiz R, Fuentes Cañamero ME, Galvin J, Bilbao Quesada R, de la Higuera Romero L, Trujillo-Quintero JP, García-Cruz LM, Cárdenas-Reyes I, Jiménez-Jáimez J, García-Hernández S, Valverde-Gómez M, Gómez-Díaz I, Limeres Freire J, García-Pinilla JM, Gimeno-Blanes JR, Savattis K, García-Pavía P, Ochoa JP. Amor-Salamanca A, et al. Among authors: garcia hernandez s. 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.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Nature. 2024 Feb;626(8001):E18. doi: 10.1038/s41586-024-07051-6. Nature. 2024. PMID: 38332034 Free PMC article. No abstract available.
46 results