An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension
Navas Tejedor, P., Tenorio Castaño, J., Palomino Doza, J., Arias Lajara, P., Gordo Trujillo, G., López Meseguer, M., Román Broto, A., Lapunzina Abadía, P., Escribano Subía, P.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
Get full text
Journal Article
131 Aetiological role of folate deficiency in congenital heart disease: evidence from Mendelian randomisation and meta-analysis
Mamasoula, V, Pierscionek, T, Hall, D, Palomino-Doza, J, Topf, A, Rahman, T, Goodship, J, Keavney, B
Published in Heart (British Cardiac Society) (01.06.2011)
Published in Heart (British Cardiac Society) (01.06.2011)
Get full text
Journal Article
Novel genetic and molecular pathways in pulmonary arterial hypertension associated with connective tissue disease
Hernandez Gonzalez, I, Ochoa-Parra, N, Tenorio-Castano, J, Perez-Olivares, C, Cruz-Utrilla, A, Palomino-Doza, J, Lago-Docampo, M, Gallego, N, Valverde, D, Lapunzina, P, Escribano-Subias, P
Published in European heart journal (12.10.2021)
Published in European heart journal (12.10.2021)
Get full text
Journal Article
5163Predictors of adverse cardiovascular events in patients with truncating variants in the filamin c (flnc) gene
Akhtar, M, Rangel-Sousa, D, Palomino-Doza, J, Arana Achaga, X, Bilinska, Z, Zamarreno Golvano, E, Climent, V, Navarro Penalver, M, Barriales-Villa, R, Charron, P, Yotti, R, Zorio, E, Jimenez-Jaimez, J, Garcia-Pavia, P, Elliott, P M
Published in European heart journal (01.10.2019)
Published in European heart journal (01.10.2019)
Get full text
Journal Article
4381Prognostic implications of pathogenic truncating variants in the TTN gene
Cicerchia, M N, Pena Pena, M L, Salazar Mendiguchia, J, Ochoa, J, Lamounier Junior, A, Trujillo, J P, Palomino Doza, J, Cardenar Reyes, I, Garcia Giustiniani, D, Fernandez Fernandez, X, Barraza Garcia, J, Rodriguez Garrido, J, Barriales Villa, R, Ortiz-Genga, M, Monserrat Iglesias, L
Published in European heart journal (01.08.2018)
Published in European heart journal (01.08.2018)
Get full text
Journal Article
Myotonic dystrophy type 1: a series of 107 patients
Sánchez-Tejerina, D, Palomino-Doza, J, Valverde-Gómez, M, Ruiz-Curiel, A, Salguero-Bodes, R, Hernández-Voth, A, Sayas-Catalán, J, Domínguez-González, C
Published in Revista de neurologiá (16.11.2021)
Published in Revista de neurologiá (16.11.2021)
Get full text
Journal Article
Nueva variante estructural compleja en DSP como causa de miocardiopatía arritmogénica
Palomino-Doza, Julián, Salguero-Bodes, Rafael, Valverde-Gómez, María, Ruiz-Curiel, Aníbal, Jiménez López-Guarch, Carmen, Arribas-Ynsaurriaga, Fernando
Published in Revista española de cardiologia (01.03.2020)
Published in Revista española de cardiologia (01.03.2020)
Get full text
Journal Article
Nueva mutación de la región conversora de la cadena pesada de la beta-miosina relacionada con miocardiopatía hipertrófica de mal pronóstico
Nuche, Jorge, Salguero-Bodes, Rafael, Valverde-Gómez, María, Delgado, Juan F., Arribas-Ynsaurriaga, Fernando, Palomino-Doza, Julián
Published in Revista española de cardiologia (01.02.2020)
Published in Revista española de cardiologia (01.02.2020)
Get full text
Journal Article
Asociación entre mutaciones en el homeodominio de NKX2.5 , desarrollo de defectos del tabique interauricular, falta de compactación ventricular y muerte súbita
Palomino Doza, Julián, Salguero-Bodes, Rafael, de la Parte, María, Arribas-Ynsaurriaga, Fernando
Published in Revista española de cardiologia (2018)
Published in Revista española de cardiologia (2018)
Get full text
Journal Article
P6320FHOD3 is a novel disease causing gene in hypertrophic cardiomyopathy
Ochoa, J P, Sabater-Molina, M, Garcia-Pinilla, J M, Restrepo-Cordoba, A, Palomino-Doza, A J, Limeres-Freire, J, Climent-Paya, V, Villacorta, E, Garcia-Granja, P E, Bautista-Paves, A, Barriales-Villa, R, Mogensen, J, Elliott, P M, Gimeno, J R, Monserrat, L
Published in European heart journal (01.08.2018)
Published in European heart journal (01.08.2018)
Get full text
Journal Article