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Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).
Ortiz L, Costa AF, Bellido ML, Solano F, García-Moreno JM, Gamero MA, Izquierdo G, Chadli A, Falcao F, Ferro J, Salas J, Alvarez-Cermeño JC, Montori M, Ramos-Arroyo MA, Palomino A, Pintado E, Lucas M. Ortiz L, et al. Among authors: izquierdo g. J Neurol. 2007 Mar;254(3):322-6. doi: 10.1007/s00415-006-0359-9. Epub 2007 Mar 7. J Neurol. 2007. PMID: 17345049
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R, Solano F, Rubio R, Delgado M, Pérez-Sempere A, González-Meneses A, Vendrell T, Izquierdo G, Martinez-Mir A, Lucas M. Mondéjar R, et al. Among authors: izquierdo g. PLoS One. 2014 Jan 23;9(1):e86286. doi: 10.1371/journal.pone.0086286. eCollection 2014. PLoS One. 2014. PMID: 24466005 Free PMC article.
A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.
Matesanz F, Potenciano V, Fedetz M, Ramos-Mozo P, Abad-Grau Mdel M, Karaky M, Barrionuevo C, Izquierdo G, Ruiz-Peña JL, García-Sánchez MI, Lucas M, Fernández Ó, Leyva L, Otaegui D, Muñoz-Culla M, Olascoaga J, Vandenbroeck K, Alloza I, Astobiza I, Antigüedad A, Villar LM, Álvarez-Cermeño JC, Malhotra S, Comabella M, Montalban X, Saiz A, Blanco Y, Arroyo R, Varadé J, Urcelay E, Alcina A. Matesanz F, et al. Among authors: izquierdo g. Hum Mol Genet. 2015 Oct 1;24(19):5619-27. doi: 10.1093/hmg/ddv256. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152201
Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
Matesanz F, González-Pérez A, Lucas M, Sanna S, Gayán J, Urcelay E, Zara I, Pitzalis M, Cavanillas ML, Arroyo R, Zoledziewska M, Marrosu M, Fernández O, Leyva L, Alcina A, Fedetz M, Moreno-Rey C, Velasco J, Real LM, Ruiz-Peña JL, Cucca F, Ruiz A, Izquierdo G. Matesanz F, et al. Among authors: izquierdo g. PLoS One. 2012;7(5):e36140. doi: 10.1371/journal.pone.0036140. Epub 2012 May 3. PLoS One. 2012. PMID: 22570697 Free PMC article.
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
Alcina A, Ramagopalan SV, Fernández O, Catalá-Rabasa A, Fedetz M, Ndagire D, Leyva L, Arnal C, Delgado C, Lucas M, Izquierdo G, Ebers GC, Matesanz F. Alcina A, et al. Among authors: izquierdo g. Eur J Hum Genet. 2010 May;18(5):618-20. doi: 10.1038/ejhg.2009.213. Epub 2009 Nov 25. Eur J Hum Genet. 2010. PMID: 19935835 Free PMC article.
394 results