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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.
[Familial approach in hereditary transthyretin cardiac amyloidosis].
García-Pavía P, Avellana P, Bornstein B, Heine-Suñer D, Cobo-Marcos M, Gómez-Bueno M, Segovia J, Alonso-Pulpón LA. García-Pavía P, et al. Rev Esp Cardiol. 2011 Jun;64(6):523-6. doi: 10.1016/j.recesp.2010.10.018. Epub 2011 Mar 24. Rev Esp Cardiol. 2011. PMID: 21439703 Free article. Spanish.
Genetic basis of end-stage hypertrophic cardiomyopathy.
Garcia-Pavia P, Vázquez ME, Segovia J, Salas C, Avellana P, Gómez-Bueno M, Vilches C, Gallardo ME, Garesse R, Molano J, Bornstein B, Alonso-Pulpon L. Garcia-Pavia P, et al. Eur J Heart Fail. 2011 Nov;13(11):1193-201. doi: 10.1093/eurjhf/hfr110. Epub 2011 Sep 6. Eur J Heart Fail. 2011. PMID: 21896538 Free article.
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.
Luxán G, Casanova JC, Martínez-Poveda B, Prados B, D'Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-García JL, Fernández-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibañez B, Medrano C, García-Pavía P, Gimeno JR, Monserrat L, Jiménez-Borreguero LJ, de la Pompa JL. Luxán G, et al. Nat Med. 2013 Feb;19(2):193-201. doi: 10.1038/nm.3046. Epub 2013 Jan 13. Nat Med. 2013. PMID: 23314057
Erysipelas and acute myocarditis: an unusual combination.
Domínguez F, Cobo-Marcos M, Guzzo G, Cavero MA, Mirelis JG, Alonso-Pulpon L, Garcia-Pavia P. Domínguez F, et al. Can J Cardiol. 2013 Sep;29(9):1138.e3-5. doi: 10.1016/j.cjca.2012.12.021. Epub 2013 Mar 13. Can J Cardiol. 2013. PMID: 23498835
Genetics in dilated cardiomyopathy.
Garcia-Pavia P, Cobo-Marcos M, Guzzo-Merello G, Gomez-Bueno M, Bornstein B, Lara-Pezzi E, Segovia J, Alonso-Pulpon L. Garcia-Pavia P, et al. Biomark Med. 2013 Aug;7(4):517-33. doi: 10.2217/bmm.13.77. Biomark Med. 2013. PMID: 23905888 Review.
281 results