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2008 1
2011 2
2013 2
2014 1
2015 1
2018 1
2020 2
2021 1
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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
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: villarroel ce. Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9. Neurology. 2013. PMID: 23935176
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.
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: villarroel ce. 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.
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
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