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Page 1
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
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
Corona-Rivera JR, Zenteno JC, López-Pérez LG, Yokoyama-Rebollar E, Villarroel CE, Barragán-Arévalo T, Montes-Almanza LÁ, Zepeda-Romero LC, Morales-Domínguez GE, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A. Corona-Rivera JR, et al. Among authors: villarroel ce. Mol Syndromol. 2023 Apr;14(2):143-151. doi: 10.1159/000526975. Epub 2022 Dec 16. Mol Syndromol. 2023. PMID: 37064331 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
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Fischer-Zirnsak B, et al. Among authors: villarroel ce. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.
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. Front Genet. 2024 Jan 24;14:1293929. doi: 10.3389/fgene.2023.1293929. eCollection 2023. Front Genet. 2024. PMID: 38327701 Free PMC article.
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
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.
15 results