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Page 1
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: ochoa jp. 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.
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. Among authors: ochoa jp. 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.
Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes.
Trujillo-Quintero JP, Gutiérrez-Agulló M, Ochoa JP, Martínez-Martínez JG, de Uña D, García-Fernández A. Trujillo-Quintero JP, et al. Among authors: ochoa jp. Rev Esp Cardiol (Engl Ed). 2019 Feb;72(2):176-178. doi: 10.1016/j.rec.2017.12.021. Epub 2018 Apr 9. Rev Esp Cardiol (Engl Ed). 2019. PMID: 29650450 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. 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.
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Domínguez F, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. J Am Coll Cardiol. 2018. PMID: 30442290 Free PMC article.
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Among authors: ochoa jp. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.
Barriales-Villa R, Ochoa JP, Larrañaga-Moreira JM, Salazar-Mendiguchía J, Díez-López C, Restrepo-Córdoba MA, Álvarez-Rubio J, Robles-Mezcua A, Olmo-Conesa MC, Nicolás-Rocamora E, Sanz J, Villacorta E, Gallego-Delgado M, Yotti R, Espinosa MÁ, Manovel A, Rincón-Díaz LM, Jiménez-Jaimez J, Bermúdez-Jiménez FJ, Basurte-Elorz MT, Climent-Payá V, García-Álvarez MI, Rodríguez-Palomares JF, Limeres-Freire J, Pérez-Guerrero A, Cantero-Pérez EM, Peña-Peña ML, Palomino-Doza J, Crespo-Leiro MG, García-Pinilla JM, Zorio E, Ripoll-Vera T, García-Pavía P, Ortiz-Genga M, Monserrat L. Barriales-Villa R, et al. Among authors: ochoa jp. Rev Esp Cardiol (Engl Ed). 2021 Mar;74(3):216-224. doi: 10.1016/j.rec.2020.03.026. Epub 2020 Jun 29. Rev Esp Cardiol (Engl Ed). 2021. PMID: 32616434 English, Spanish.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Akhtar MM, Lorenzini M, Cicerchia M, Ochoa JP, Hey TM, Sabater Molina M, Restrepo-Cordoba MA, Dal Ferro M, Stolfo D, Johnson R, Larrañaga-Moreira JM, Robles-Mezcua A, Rodriguez-Palomares JF, Casas G, Peña-Peña ML, Lopes LR, Gallego-Delgado M, Franaszczyk M, Laucey G, Rangel-Sousa D, Basurte M, Palomino-Doza J, Villacorta E, Bilinska Z, Limeres Freire J, Garcia Pinilla JM, Barriales-Villa R, Fatkin D, Sinagra G, Garcia-Pavia P, Gimeno JR, Mogensen J, Monserrat L, Elliott PM. Akhtar MM, et al. Among authors: ochoa jp. Circ Heart Fail. 2020 Oct;13(10):e006832. doi: 10.1161/CIRCHEARTFAILURE.119.006832. Epub 2020 Sep 23. Circ Heart Fail. 2020. PMID: 32964742 Free article.
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Salazar-Mendiguchía J, Barriales-Villa R, Lopes LR, Ochoa JP, Rodríguez-Vilela A, Palomino-Doza J, Larrañaga-Moreira JM, Cicerchia M, Cárdenas-Reyes I, García-Giustiniani D, Brögger N, Fernández G, García S, Santiago L, Vélez P, Ortiz-Genga M, Elliott PM, Monserrat L. Salazar-Mendiguchía J, et al. Among authors: ochoa jp. Eur J Med Genet. 2020 Dec;63(12):104079. doi: 10.1016/j.ejmg.2020.104079. Epub 2020 Oct 7. Eur J Med Genet. 2020. PMID: 33035702
55 results