MARÍA PILAR
ESCRIBANO SUBÍAS
Profesora asociada de Ciencias de la Salud
P.
Lapunzina
Publicaciones en las que colabora con P. Lapunzina (9)
2023
2022
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Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
Genes, Vol. 13, Núm. 5
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First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease
American Journal of Respiratory and Critical Care Medicine, Vol. 206, Núm. 12, pp. 1522-1533
2021
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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Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension
Genes, Vol. 11, Núm. 10, pp. 1-15
2018
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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
2015
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A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies
Clinical Genetics, Vol. 88, Núm. 6, pp. 579-583