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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Marakhonov AV, et al. Among authors: guillen e. Orphanet J Rare Dis. 2020 Aug 13;15(1):207. doi: 10.1186/s13023-020-01484-8. Orphanet J Rare Dis. 2020. PMID: 32791987 Free PMC article.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P. Romanelli V, et al. Among authors: guillen e. Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248736 Free PMC article.
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: guillen e. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MAF, Santos F, Camacho JA, Claverie-Martín F. Ramos-Trujillo E, et al. Among authors: guillen e. J Hum Genet. 2007;52(3):255-261. doi: 10.1007/s10038-007-0112-y. Epub 2007 Jan 30. J Hum Genet. 2007. PMID: 17262170
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Pajares S, et al. Among authors: guillen e. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. Mol Genet Metab. 2012. PMID: 22521955
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. Maortua H, et al. Among authors: guillen e. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26. J Mol Diagn. 2013. PMID: 23810759 Free article.
110 results