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Human endometrial receptivity: gene regulation.
Martín J, Domínguez F, Avila S, Castrillo JL, Remohí J, Pellicer A, Simón C. Martín J, et al. Among authors: avila s. J Reprod Immunol. 2002 May-Jun;55(1-2):131-9. doi: 10.1016/s0165-0378(01)00140-1. J Reprod Immunol. 2002. PMID: 12062828
Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.
Yokoyama E, Villarroel CE, Del Castillo V, Torres L, Sánchez S, Molina B, Avila S, Castrillo JL, Navarrete-Meneses P, Frías S. Yokoyama E, et al. Among authors: avila s. Am J Med Genet A. 2014 Mar;164A(3):824-7. doi: 10.1002/ajmg.a.36347. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357343 No abstract available.
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
Yokoyama E, Smith-Pellegrin DL, Sánchez S, Molina B, Rodríguez A, Juárez R, Lieberman E, Avila S, Castrillo JL, Del Castillo V, Frías S. Yokoyama E, et al. Among authors: avila s. Mol Cytogenet. 2017 Nov 15;10:42. doi: 10.1186/s13039-017-0345-1. eCollection 2017. Mol Cytogenet. 2017. PMID: 29177010 Free PMC article.
A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.
Bravo-Oro A, Lurie IW, Elizondo-Cárdenas G, Peña-Zepeda C, Salazar-Martínez A, Correa-González C, Castrillo JL, Avila S, Esmer C. Bravo-Oro A, et al. Among authors: avila s. Am J Med Genet A. 2015 Aug;167A(8):1865-71. doi: 10.1002/ajmg.a.36806. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988649
iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation.
Fleischer A, Vallejo-Díez S, Martín-Fernández JM, Sánchez-Gilabert A, Castresana M, Del Pozo A, Esquisabel A, Ávila S, Castrillo JL, Gaínza E, Pedraz JL, Viñas M, Bachiller D. Fleischer A, et al. Among authors: avila s. Mol Ther Methods Clin Dev. 2020 Apr 18;17:858-870. doi: 10.1016/j.omtm.2020.04.005. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32373648 Free PMC article.
288 results