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Page 1
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: venegas vega ca. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium; Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Tenorio J, et al. Among authors: venegas vega ca. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. Clin Genet. 2020. PMID: 31972898
An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome.
Serrano-Juárez CA, Prieto-Corona B, Rodríguez-Camacho M, Venegas-Vega CA, Yáñez-Téllez MG, Silva-Pereyra J, Salgado-Ceballos H, Arias-Trejo N, De León Miranda MA. Serrano-Juárez CA, et al. Among authors: venegas vega ca. J Autism Dev Disord. 2021 May;51(5):1695-1704. doi: 10.1007/s10803-020-04656-4. J Autism Dev Disord. 2021. PMID: 32812194
Influence of obesity, parental history of diabetes, and genes in type 2 diabetes: A case-control study.
Berumen J, Orozco L, Betancourt-Cravioto M, Gallardo H, Zulueta M, Mendizabal L, Simon L, Benuto RE, Ramírez-Campos E, Marin M, Juárez E, García-Ortiz H, Martínez-Hernández A, Venegas-Vega C, Peralta-Romero J, Cruz M, Tapia-Conyer R. Berumen J, et al. Among authors: venegas vega c. Sci Rep. 2019 Feb 26;9(1):2748. doi: 10.1038/s41598-019-39145-x. Sci Rep. 2019. PMID: 30808941 Free PMC article.
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. Nevado J, et al. Among authors: venegas vega ca. Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853300 Free PMC article.
Amplified genes may be overexpressed, unchanged, or downregulated in cervical cancer cell lines.
Vazquez-Mena O, Medina-Martinez I, Juárez-Torres E, Barrón V, Espinosa A, Villegas-Sepulveda N, Gómez-Laguna L, Nieto-Martínez K, Orozco L, Roman-Basaure E, Muñoz Cortez S, Borges Ibañez M, Venegas-Vega C, Guardado-Estrada M, Rangel-López A, Kofman S, Berumen J. Vazquez-Mena O, et al. Among authors: venegas vega c. PLoS One. 2012;7(3):e32667. doi: 10.1371/journal.pone.0032667. Epub 2012 Mar 7. PLoS One. 2012. PMID: 22412903 Free PMC article.
Impact of gene dosage on gene expression, biological processes and survival in cervical cancer: a genome-wide follow-up study.
Medina-Martinez I, Barrón V, Roman-Bassaure E, Juárez-Torres E, Guardado-Estrada M, Espinosa AM, Bermudez M, Fernández F, Venegas-Vega C, Orozco L, Zenteno E, Kofman S, Berumen J. Medina-Martinez I, et al. Among authors: venegas vega c. PLoS One. 2014 May 30;9(5):e97842. doi: 10.1371/journal.pone.0097842. eCollection 2014. PLoS One. 2014. PMID: 24879114 Free PMC article.
13 results