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First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: valverde d. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
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: valverde d, valverde gomez m. 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: valverde d. Genes (Basel). 2020 Sep 30;11(10):1158. doi: 10.3390/genes11101158. Genes (Basel). 2020. PMID: 33007923 Free PMC article.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Gallego-Zazo N, Miranda-Alcaraz L, Cruz-Utrilla A, Del Cerro Marín MJ, Álvarez-Fuente M, Del Mar Rodríguez Vázquez Del Rey M, Guillén Rodríguez I, Becerra-Munoz VM, Moya-Bonora A, Ochoa Parra N, Parra A, Pascual P, Cazalla M, Silván C, Arias P, Valverde D, de Jesús-Pérez V, Lapunzina P, Escribano-Subías P, Tenorio-Castano J. Gallego-Zazo N, et al. Among authors: valverde d. Genes (Basel). 2023 Oct 20;14(10):1965. doi: 10.3390/genes14101965. Genes (Basel). 2023. PMID: 37895315 Free PMC article. Review.
ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia.
Álvarez-Satta M, Lago-Docampo M, Bea-Mascato B, Solarat C, Castro-Sánchez S, Christensen ST, Valverde D. Álvarez-Satta M, et al. Among authors: valverde d. Front Cell Dev Biol. 2021 Feb 1;9:623829. doi: 10.3389/fcell.2021.623829. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33598462 Free PMC article.
147 results