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A collection of four integration-free iPSC lines derived from diagnosed sporadic Alzheimer's disease patients with different APOE alleles.
Díaz-Guerra E, Moreno-Jiménez EP, de Rojas I, Rodríguez C, Rodríguez-Traver E, Arribas-González E, Orera M, Hernández I, Ruiz A, Vicario C. Díaz-Guerra E, et al. Among authors: orera m. Stem Cell Res. 2019 Aug;39:101522. doi: 10.1016/j.scr.2019.101522. Epub 2019 Aug 1. Stem Cell Res. 2019. PMID: 31401456 Free article.
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene.
Rodríguez-Traver E, Rodríguez C, Díaz-Guerra E, Arenas F, Araúzo-Bravo M, Orera M, Kulisevsky J, Moratalla R, Vicario C. Rodríguez-Traver E, et al. Among authors: orera m. Stem Cell Res. 2019 Oct;40:101578. doi: 10.1016/j.scr.2019.101578. Epub 2019 Sep 12. Stem Cell Res. 2019. PMID: 31539859 Free article.
Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation.
Díaz-Guerra E, Oria-Muriel MA, Moreno-Jiménez EP, de Rojasb I, Rodríguez C, Rodríguez-Traver E, Orera M, Hernándezb I, Ruizb A, Vicario C. Díaz-Guerra E, et al. Among authors: orera m. Stem Cell Res. 2019 Oct;40:101574. doi: 10.1016/j.scr.2019.101574. Epub 2019 Sep 10. Stem Cell Res. 2019. PMID: 31627126 Free article.
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. Nevado J, et al. Among authors: orera m. Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853300 Free PMC article.
An excess of chromosome 1 breakpoints in male infertility.
Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. Bache I, et al. Among authors: orera m. Eur J Hum Genet. 2004 Dec;12(12):993-1000. doi: 10.1038/sj.ejhg.5201263. Eur J Hum Genet. 2004. PMID: 15367911
21 results