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Page 1
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: ibarluzea n. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 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. Among authors: ibarluzea n. 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.
Androgen-dependent alternative mRNA isoform expression in prostate cancer cells.
Munkley J, Maia TM, Ibarluzea N, Livermore KE, Vodak D, Ehrmann I, James K, Rajan P, Barbosa-Morais NL, Elliott DJ. Munkley J, et al. Among authors: ibarluzea n. F1000Res. 2018 Aug 3;7:1189. doi: 10.12688/f1000research.15604.1. eCollection 2018. F1000Res. 2018. PMID: 30271587 Free PMC article.
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Villate O, Ibarluzea N, Fraile-Bethencourt E, Valenzuela A, Velasco EA, Grozeva D, Raymond FL, Botella MP, Tejada MI. Villate O, et al. Among authors: ibarluzea n. Front Genet. 2018 Jan 26;9:7. doi: 10.3389/fgene.2018.00007. eCollection 2018. Front Genet. 2018. PMID: 29434620 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: ibarluzea n. Front Neurol. 2020 Feb 14;11:41. doi: 10.3389/fneur.2020.00041. eCollection 2020. Front Neurol. 2020. PMID: 32117010 Free PMC article.