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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.
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. Among authors: tenorio castano ja. 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.
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
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. 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 Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Cruz-Utrilla A, Gallego-Zazo N, Tenorio-Castaño JA, Guillén I, Torrent-Vernetta A, Moya-Bonora A, Labrandero C, Rodríguez-Monte MEG, Rodríguez-Ogando A, Rey MDMRVD, Espín J, Plata-Izquierdo B, Álvarez-Fuente M, Moreno-Galdó A, Escribano-Subias P, Marín MJDC. Cruz-Utrilla A, et al. Among authors: tenorio castano ja. Int J Mol Sci. 2022 Sep 9;23(18):10433. doi: 10.3390/ijms231810433. Int J Mol Sci. 2022. PMID: 36142358 Free PMC article.
Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension.
Cruz-Utrilla A, Gallego-Zazo N, Pérez-Olivares C, Hernández-González I, Bedate P, Martínez Meñaca A, López Meseguer M, Lapunzina P, Pérez Núñez M, Ochoa Parra N, Valverde D, Tenorio-Castaño JA, Escribano-Subias P. Cruz-Utrilla A, et al. Among authors: tenorio castano ja. Rev Esp Cardiol (Engl Ed). 2023 Jun;76(6):460-467. doi: 10.1016/j.rec.2022.11.002. Epub 2022 Nov 18. Rev Esp Cardiol (Engl Ed). 2023. PMID: 36403940 English, Spanish.
45 results