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Page 1
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.
Direct oral anticoagulants in patients with hypertrophic cardiomyopathy and atrial fibrillation.
Dominguez F, Climent V, Zorio E, Ripoll-Vera T, Salazar-Mendiguchía J, García-Pinilla JM, Urbano-Moral JA, Fernández-Fernández X, Lopez-Cuenca D, Ajo-Ferrer R, Sanz-Sanchez J, Gomez-Perez Y, López-Garrido MA, Barriales-Villa R, Gimeno JR, Garcia-Pavia P. Dominguez F, et al. Int J Cardiol. 2017 Dec 1;248:232-238. doi: 10.1016/j.ijcard.2017.08.010. Epub 2017 Aug 7. Int J Cardiol. 2017. PMID: 28811092 Free article.
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P. Ware JS, et al. J Am Coll Cardiol. 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. J Am Coll Cardiol. 2018. PMID: 29773157 Free PMC 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. 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.
Prognostic implications of pathogenic truncating variants in the TTN gene.
Peña-Peña ML, Ochoa JP, Barriales-Villa R, Cicerchia M, Palomino-Doza J, Salazar-Mendiguchía J, Lamounier A, Trujillo JP, Garcia-Giustiniani D, Fernandez X, Ortiz-Genga M, Monserrat L, Crespo-Leiro MG. Peña-Peña ML, et al. Int J Cardiol. 2020 Oct 1;316:180-183. doi: 10.1016/j.ijcard.2020.04.086. Epub 2020 May 1. Int J Cardiol. 2020. PMID: 32371228 Free 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. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña ML, Ochoa JP, Barriales-Villa R, Cicerchia M, Palomino-Doza J, Salazar-Mendiguchia J, Lamounier A, Trujillo JP, Garcia-Giustiniani D, Fernandez X, Ortiz-Genga M, Monserrat L, Crespo-Leiro MG. Peña-Peña ML, et al. Among authors: salazar mendiguchia j. Med Clin (Barc). 2021 May 21;156(10):485-495. doi: 10.1016/j.medcli.2020.05.067. Epub 2020 Aug 19. Med Clin (Barc). 2021. PMID: 32826072 English, Spanish.
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. 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
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.
López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, Campuzano Larrea O, López-Garrido MÁ, García-Guereta L, Fuentes Cañamero ME, Climent Payá V, Peña-Peña ML, Zorio-Grima E, Jordá-Burgos P, Díez-López C, Brugada R, García-Pinilla JM, García-Pavía P. López-Sainz Á, et al. Rev Esp Cardiol (Engl Ed). 2019 Jun;72(6):479-486. doi: 10.1016/j.rec.2018.04.035. Epub 2018 Aug 11. Rev Esp Cardiol (Engl Ed). 2019. PMID: 30108015 English, Spanish.
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. 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.
45 results