MARÍA PILAR
ESCRIBANO SUBÍAS
Profesora asociada de Ciencias de la Salud
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)
2023
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Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension
American Journal of Respiratory Cell and Molecular Biology, Vol. 69, Núm. 2, pp. 147-158
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Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature
Genes, Vol. 14, Núm. 10
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Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension
Revista Espanola de Cardiologia, Vol. 76, Núm. 6, pp. 460-467
2022
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Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry
International journal of molecular sciences, Vol. 23, Núm. 18
2021
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The role of genetics in pulmonary arterial hypertension associated with congenital heart disease
Revista Espanola de Cardiologia, Vol. 74, Núm. 10, pp. 884-886
2020
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Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
Scientific Reports, Vol. 10, Núm. 1
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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
PLoS ONE, Vol. 15, Núm. 4
2018
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Physical activity levels are low in patients with pulmonary hypertension
Annals of Translational Medicine, Vol. 6, Núm. 11, pp. 205-205
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Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival
Revista Espanola de Cardiologia, Vol. 71, Núm. 2, pp. 117-118
2016
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Análisis de los genes BMPR2, TBX4 y KCNK3 y correlación genotipo-fenotipo en pacientes y familias españolas con hipertensión arterial pulmonar
Revista Espanola de Cardiologia, Vol. 69, Núm. 11, pp. 1011-1019