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Page 1
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M. Tejada MI, et al. Among authors: maortua h. Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28. Biomed Res Int. 2014. PMID: 24987673 Free PMC article.
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tümer Z. Schönewolf-Greulich B, et al. Among authors: maortua h. Clin Genet. 2016 Jun;89(6):733-8. doi: 10.1111/cge.12769. Epub 2016 Apr 8. Clin Genet. 2016. PMID: 26936630
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: maortua h. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
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: maortua h. 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.
14 results