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Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma.
Alaña L, Nunes-Xavier CE, Zaldumbide L, Martin-Guerrero I, Mosteiro L, Alba-Pavón P, Villate O, García-Obregón S, González-García H, Herraiz R, Astigarraga I, Pulido R, García-Ariza M. Alaña L, et al. Among authors: villate o. Cancers (Basel). 2022 Jan 14;14(2):421. doi: 10.3390/cancers14020421. Cancers (Basel). 2022. PMID: 35053583 Free PMC article.
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Aguilera-Albesa S, de la Hoz AB, Ibarluzea N, Ordóñez-Castillo AR, Busto-Crespo O, Villate O, Ibiricu-Yanguas MA, Yoldi-Petri ME, García de Gurtubay I, Perez de Nanclares G, Pereda A, Tejada MI. Aguilera-Albesa S, et al. Among authors: villate o. Front Neurol. 2020 Feb 14;11:41. doi: 10.3389/fneur.2020.00041. eCollection 2020. Front Neurol. 2020. PMID: 32117010 Free PMC article.
Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Villate O, Ibarluzea N, Maortua H, de la Hoz AB, Rodriguez-Revenga L, Izquierdo-Álvarez S, Tejada MI. Villate O, et al. Front Mol Biosci. 2020 Jul 14;7:135. doi: 10.3389/fmolb.2020.00135. eCollection 2020. Front Mol Biosci. 2020. PMID: 32766278 Free PMC article.
New CTSA mutation in early infantile galactosialidosis.
Aldámiz-Echevarría L, Couce ML, Villate O, Fernández-Marmiesse A, Piñán MÁ. Aldámiz-Echevarría L, et al. Among authors: villate o. Pediatr Int. 2018 Aug;60(8):761-762. doi: 10.1111/ped.13604. Epub 2018 Jul 10. Pediatr Int. 2018. PMID: 29987886 No abstract available.
Clinical implication of FMR1 intermediate alleles in a Spanish population.
Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M. Alvarez-Mora MI, et al. Among authors: villate o. Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257. Clin Genet. 2018. PMID: 29604051
30 results