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Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: sabater molina m. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M, Navarro M, García-Molina Sáez E, Garrido I, Pascual-Figal D, González Carrillo J, Gimeno Blanes JR. Sabater-Molina M, et al. Clin Genet. 2016 Nov;90(5):468-469. doi: 10.1111/cge.12825. Epub 2016 Jul 29. Clin Genet. 2016. PMID: 27471098 No abstract available.
A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.
Sabater-Molina M, Saura D, García-Molina Sáez E, González-Carrillo J, Polo L, Pérez-Sánchez I, Olmo MDC, Oliva-Sandoval MJ, Barriales-Villa R, Carbonell P, Pascual-Figal D, Gimeno JR. Sabater-Molina M, et al. Rev Esp Cardiol (Engl Ed). 2017 Feb;70(2):105-114. doi: 10.1016/j.rec.2016.06.020. Epub 2016 Oct 28. Rev Esp Cardiol (Engl Ed). 2017. PMID: 28029522 English, Spanish.
Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.
Pérez-Sánchez I, Romero-Puche AJ, García-Molina Sáez E, Sabater-Molina M, López-Ayala JM, Muñoz-Esparza C, López-Cuenca D, de la Morena G, Castro-García FJ, Gimeno-Blanes JR. Pérez-Sánchez I, et al. Rev Esp Cardiol (Engl Ed). 2018 Mar;71(3):146-154. doi: 10.1016/j.rec.2017.06.002. Epub 2017 Jul 4. Rev Esp Cardiol (Engl Ed). 2018. PMID: 28687478 English, Spanish.
Hypertrophic cardiomyopathy.
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR. Santos Mateo JJ, et al. Med Clin (Barc). 2018 Jun 8;150(11):434-442. doi: 10.1016/j.medcli.2017.09.013. Epub 2017 Nov 14. Med Clin (Barc). 2018. PMID: 29150126 Review. English, Spanish.
Phenotype-modifying Factors in Hypertrophic Cardiomyopathy. Response.
Pérez-Sánchez I, Sabater-Molina M, Muñoz-Esparza C, Gimeno-Blanes JR. Pérez-Sánchez I, et al. Rev Esp Cardiol (Engl Ed). 2018 Sep;71(9):770-771. doi: 10.1016/j.rec.2018.04.023. Epub 2018 Jun 25. Rev Esp Cardiol (Engl Ed). 2018. PMID: 29954718 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.
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ. Hall CL, et al. Int J Cardiol. 2020 May 15;307:101-108. doi: 10.1016/j.ijcard.2019.09.048. Epub 2019 Oct 8. Int J Cardiol. 2020. PMID: 31627847 Free article.
46 results