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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. Int J Mol Sci. 2022 Sep 9;23(18):10433. doi: 10.3390/ijms231810433. Int J Mol Sci. 2022. PMID: 36142358 Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima … See abstract for full author list ➔ Gargano MA, et al. Among authors: tenorio castano ja. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
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.
46 results