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Page 1
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.
Prior-de Castro C, Martínez Gallego MÁ, Gómez-González C, de Sancho Martín R, Rodríguez-Antolín C, Rodríguez-Jiménez C, Del Pozo Mate Á, Zamarrón de Lucas E, Ruiz de Valbuena Maiz M, de Manuel Gómez C, Alcolea Batres S, Prados Sánchez MC, J Torres R. Prior-de Castro C, et al. Among authors: del pozo mate a. J Cyst Fibros. 2024 Jul;23(4):788-795. doi: 10.1016/j.jcf.2023.12.007. Epub 2023 Dec 26. J Cyst Fibros. 2024. PMID: 38151412
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Gómez-González C, Pizarro-Sánchez C, Rodríguez-Antolín C, Pascual-Pascual I, Garcia-Romero M, Rodriguez-Jiménez C, de Sancho-Martín R, Del Pozo-Mate Á, Solís-López M, Prior-de Castro C, Torres RJ. Gómez-González C, et al. Among authors: del pozo mate a. Ann Hum Genet. 2022 May;86(3):109-118. doi: 10.1111/ahg.12455. Epub 2021 Dec 20. Ann Hum Genet. 2022. PMID: 34927723
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas PP, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: del pozo mate a. J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29408330 No abstract available.