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Page 1
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E. Plaja A, et al. Among authors: lloveras e. Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Cytogenet Genome Res. 2015. PMID: 26382598
Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.
Lloveras E, Pérez C, Solé F, Zamora L, Lladonosa A, Espinet B, Silvestre E, Serra J, Vendrell T, Fernández B, Salido M, Plaja A. Lloveras E, et al. Am J Med Genet A. 2004 Feb 1;124A(4):402-6. doi: 10.1002/ajmg.a.20447. Am J Med Genet A. 2004. PMID: 14735590
Prenatal diagnosis of an interstitial 12q chromosome deletion.
Pérez Sánchez C, Ayensa F, Lloveras E, Zamora L, Cirigliano V, Pérez E, Plaja A. Pérez Sánchez C, et al. Among authors: lloveras e. Ann Genet. 2004 Apr-Jun;47(2):177-9. doi: 10.1016/j.anngen.2003.10.006. Ann Genet. 2004. PMID: 15183750
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: lloveras e. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
Prenatal detection of a paracentric inversion 16(q11.2q13).
Pérez C, Lloveras E, Zamora L, Melero C, Pérez E, Plaja A. Pérez C, et al. Among authors: lloveras e. Ann Genet. 2002 Jul-Sep;45(3):141-2. doi: 10.1016/s0003-3995(02)01125-5. Ann Genet. 2002. PMID: 12381445
36 results