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Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.
Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P. Navas P, et al. Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21. Rev Esp Cardiol (Engl Ed). 2016. PMID: 27453251 English, Spanish.
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.
Navas Tejedor P, Palomino Doza J, Tenorio Castaño JA, Enguita Valls AB, Rodríguez Reguero JJ, Martínez Meñaca A, Hernández González I, Bueno Zamora H, Lapunzina Badía PD, Escribano Subías P. Navas Tejedor P, et al. Rev Esp Cardiol (Engl Ed). 2018 Feb;71(2):86-94. doi: 10.1016/j.rec.2017.03.034. Epub 2017 Jul 9. Rev Esp Cardiol (Engl Ed). 2018. PMID: 28697925 English, Spanish.
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.
Hernandez-Gonzalez I, Tenorio J, Palomino-Doza J, Martinez Meñaca A, Morales Ruiz R, Lago-Docampo M, Valverde Gomez M, Gomez Roman J, Enguita Valls AB, Perez-Olivares C, Valverde D, Gil Carbonell J, Garrido-Lestache Rodríguez-Monte E, Del Cerro MJ, Lapunzina P, Escribano-Subias P. Hernandez-Gonzalez I, et al. PLoS One. 2020 Apr 29;15(4):e0232216. doi: 10.1371/journal.pone.0232216. eCollection 2020. PLoS One. 2020. PMID: 32348326 Free PMC article.
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT, Hernández-Gonzalez I, Gallego N, Pérez-Olivares C, Ochoa Parra N, Arias P, Granda E, Acebo GG, Lago-Docampo M, Palomino-Doza J, López Meseguer M, Del Cerro MJ, Pah Consortium S, Valverde D, Lapunzina P, Escribano-Subías P. Castaño JAT, et al. Genes (Basel). 2020 Sep 30;11(10):1158. doi: 10.3390/genes11101158. Genes (Basel). 2020. PMID: 33007923 Free PMC article.
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties.
Pérez Núñez M, Alonso Charterina S, Pérez-Olivares C, Revilla Ostolaza Y, Morales Ruiz R, Enguita Valls AB, Tenorio JA, Gallego Zazo N, De Pablo Gafas A, Lapunzina P, Rodríguez Chaverri A, Escribano Subías P. Pérez Núñez M, et al. Diagnostics (Basel). 2021 Jan 19;11(1):141. doi: 10.3390/diagnostics11010141. Diagnostics (Basel). 2021. PMID: 33477983 Free PMC article.
155 results