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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. Among authors: lapunzina p. 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.
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. Among authors: lapunzina p. 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. Among authors: lapunzina p. 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. Among authors: lapunzina p. Diagnostics (Basel). 2021 Jan 19;11(1):141. doi: 10.3390/diagnostics11010141. Diagnostics (Basel). 2021. PMID: 33477983 Free PMC article.
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension.
Pienkos S, Gallego N, Condon DF, Cruz-Utrilla A, Ochoa N, Nevado J, Arias P, Agarwal S, Patel H, Chakraborty A, Lapunzina P, Escribano P, Tenorio-Castaño J, de Jesús Pérez VA. Pienkos S, et al. Among authors: lapunzina p. Front Med (Lausanne). 2021 Apr 30;8:625763. doi: 10.3389/fmed.2021.625763. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33996849 Free PMC article.
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P. Tenorio-Castaño J, et al. Among authors: lapunzina p. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. Genes (Basel). 2021. PMID: 34068396 Free PMC article.
283 results