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Page 1
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
Polydactyly in 22q11 syndrome: should it be taken into account?
Sánchez-Ramón S, Bartolomé J, Sánchez-Luna M, Franco ML, Orera M, Fernández-Cruz E, Fernández-Pacheco RP, Gil J. Sánchez-Ramón S, et al. Among authors: orera m. Clin Genet. 2000 Jul;58(1):84-5. doi: 10.1034/j.1399-0004.2000.580117.x. Clin Genet. 2000. PMID: 10945670 No abstract available.
[Antiphospholipid syndrome updating].
Orts JA, Zúñiga A, Orera M. Orts JA, et al. Among authors: orera m. Med Clin (Barc). 2003 Oct 11;121(12):459-71. Med Clin (Barc). 2003. PMID: 14572372 Review. Spanish.
[Familial Pitt-Rogers-Danks: two new cases].
Cabrera López JC, Marti Herrero M, Fernández Burriel M, Toledo L, de Andrés-Cofiño R, Orera MA. Cabrera López JC, et al. Among authors: orera ma. Rev Neurol. 2001 Sep 1-15;33(5):439-43. Rev Neurol. 2001. PMID: 11727212 Free article. Review. Spanish.
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.
21 results