Plaja A - Search Results

1

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.

Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, García-Aragonés M, Villa O, Mansilla E, Preciado C, Fernández L, Ángeles Mori M, García-Pérez L, Lapunzina PD, Pérez-Jurado LA. Armengol L, et al. Among authors: plaja a. Hum Genet. 2012 Mar;131(3):513-23. doi: 10.1007/s00439-011-1095-5. Hum Genet. 2012. PMID: 21975797 Free PMC article. Clinical Trial.

2

Assessment of QF-PCR as the first approach in prenatal diagnosis.

Badenas C, Rodríguez-Revenga L, Morales C, Mediano C, Plaja A, Pérez-Iribarne MM, Soler A, Clusellas N, Borrell A, Sánchez MÁ, Miró E, Sánchez A, Milà M, Jiménez W. Badenas C, et al. Among authors: plaja a. J Mol Diagn. 2010 Nov;12(6):828-34. doi: 10.2353/jmoldx.2010.090224. Epub 2010 Oct 1. J Mol Diagn. 2010. PMID: 20889556 Free PMC article.

3

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: plaja a. 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.

4

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: plaja a. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567

5

Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR.

Cirigliano V, Cañadas P, Plaja A, Ordoñez E, Mediano C, Sánchez A, Farrán I. Cirigliano V, et al. Among authors: plaja a. Prenat Diagn. 2003 Aug;23(8):629-33. doi: 10.1002/pd.655. Prenat Diagn. 2003. PMID: 12913868

6

Prenatal diagnosis of a rare chromosomal instability syndrome: variegated aneuploidy related to premature centromere division (PCD).

Plaja A, Mediano C, Cano L, Vendrell T, Sarret E, Farràn I, Sánchez MA. Plaja A, et al. Am J Med Genet A. 2003 Feb 15;117A(1):85-6. doi: 10.1002/ajmg.a.10810. Am J Med Genet A. 2003. PMID: 12548747 No abstract available.

7

Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis.

Rigola MA, Plaja A, Mediano C, Miró R, Egozcue J, Fuster C. Rigola MA, et al. Among authors: plaja a. Am J Med Genet. 2001 Nov 15;104(1):37-41. doi: 10.1002/ajmg.1584. Am J Med Genet. 2001. PMID: 11746025

8

Terminal deletion of Xp in a dysmorphic anencephalic fetus.

Plaja A, Vendrell T, Sarret E, Torán N, Mediano C. Plaja A, et al. Prenat Diagn. 1994 May;14(5):410-2. doi: 10.1002/pd.1970140512. Prenat Diagn. 1994. PMID: 8084861

9

Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.

Lloveras E, Vendrell T, Fernández A, Castells N, Cueto A, del Campo M, Hernando C, Villa O, Plaja A. Lloveras E, et al. Among authors: plaja a. Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. Cytogenet Genome Res. 2014. PMID: 25720458

10

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

Plaja A, Vendrell T, Smeets D, Sarret E, Gili T, Català V, Mediano C, Scheres JM. Plaja A, et al. Am J Med Genet. 2001 Jan 22;98(3):216-23. doi: 10.1002/1096-8628(20010122)98:3<216::aid-ajmg1091>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11169558 Review.

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