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Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Sánchez S, Juárez U, Domínguez J, Molina B, Barrientos R, Martínez-Hernández A, Carnevale A, Grether-González P, Mayen DG, Villarroel C, Lieberman E, Yokoyama E, Del Castillo V, Torres L, Frias S. Sánchez S, et al. Among authors: villarroel c. Mol Cytogenet. 2023 Jan 12;16(1):2. doi: 10.1186/s13039-022-00631-z. Mol Cytogenet. 2023. PMID: 36631885 Free PMC article.
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Cervantes-Barragán DE, et al. Among authors: villarroel ce. J Med Genet. 2011 Oct;48(10):716-20. doi: 10.1136/jmedgenet-2011-100251. J Med Genet. 2011. PMID: 21931173
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. 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.
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Leal-Anaya P, Kimball TN, Yanez-Felix AL, Fiesco-Roa MÓ, García-de Teresa B, Monsiváis A, Juárez-Velázquez R, Lieberman E, Villarroel C, Yokoyama E, Fernández-Hernández L, Rivera-Osorio A, Sosa D, Ortiz Sandoval MM, López-Santiago N, Frías S, Del Castillo V, Rodríguez A. Leal-Anaya P, et al. Among authors: villarroel c. Front Genet. 2024 Jan 24;14:1293929. doi: 10.3389/fgene.2023.1293929. eCollection 2023. Front Genet. 2024. PMID: 38327701 Free PMC article.
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA, Villarroel CE, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Mora-Montes HM, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: villarroel ce. Mol Genet Metab Rep. 2021 Jul 2;28:100781. doi: 10.1016/j.ymgmr.2021.100781. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34277356 Free PMC article.
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC. Matías-Pérez D, et al. Among authors: villarroel ce. J Hum Genet. 2018 Nov;63(11):1169-1180. doi: 10.1038/s10038-018-0504-1. Epub 2018 Sep 4. J Hum Genet. 2018. PMID: 30181649
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C. Garza-Mayén G, et al. Among authors: villarroel ce. Eur J Med Genet. 2021 May;64(5):104199. doi: 10.1016/j.ejmg.2021.104199. Epub 2021 Mar 18. Eur J Med Genet. 2021. PMID: 33746039
88 results