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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: pozo ad. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Gómez-González C, Rosas-Alonso R, Rodríguez-Antolín C, García-Guede A, Ibáñez de Caceres I, Sanguino J, Pascual SI, Esteban I, Pozo AD, Mori MÁ, Torres RJ, Prior C. Gómez-González C, et al. Among authors: pozo ad. Eur J Med Genet. 2021 Apr;64(4):104170. doi: 10.1016/j.ejmg.2021.104170. Epub 2021 Feb 19. Eur J Med Genet. 2021. PMID: 33618039
Cannabidiol reduces intraventricular hemorrhage brain damage, preserving myelination and preventing blood brain barrier dysfunction in immature rats.
Pozo AD, Hoz-Rivera M, Romero A, Villa M, Martínez M, Silva L, Piscitelli F, Di Marzo V, Gutiérrez-Rodríguez A, Hind W, Martínez-Orgado J. Pozo AD, et al. Neurotherapeutics. 2024 Mar;21(2):e00326. doi: 10.1016/j.neurot.2024.e00326. Epub 2024 Feb 1. Neurotherapeutics. 2024. PMID: 38301326 Free PMC article.
Rate of detection of advanced neoplasms in proximal colon by simulated sigmoidoscopy vs fecal immunochemical tests.
Castells A, Quintero E, Álvarez C, Bujanda L, Cubiella J, Salas D, Lanas A, Carballo F, Morillas JD, Hernández C, Jover R, Hijona E, Portillo I, Enríquez-Navascués JM, Hernández V, Martínez-Turnes A, Menéndez-Villalva C, González-Mao C, Sala T, Ponce M, Andrés M, Teruel G, Peris A, Sopeña F, González-Rubio F, Seoane-Urgorri A, Grau J, Serradesanferm A, Pozo À, Pellisé M, Balaguer F, Ono A, Cruzado J, Pérez-Riquelme F, Alonso-Abreu I, Carrillo-Palau M, de la Vega-Prieto M, Iglesias R, Amador J, Blanco JM, Sastre R, Ferrándiz J, González-Hernández MJ, Andreu M, Bessa X; COLONPREV Study Investigators. Castells A, et al. Clin Gastroenterol Hepatol. 2014 Oct;12(10):1708-16.e4. doi: 10.1016/j.cgh.2014.03.022. Epub 2014 Mar 27. Clin Gastroenterol Hepatol. 2014. PMID: 24681078 Clinical Trial.