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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. 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.
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D, Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ, Pérez-Jurado LA. Rodríguez-Santiago B, et al. Among authors: armengol l. Am J Hum Genet. 2010 Jul 9;87(1):129-38. doi: 10.1016/j.ajhg.2010.06.002. Am J Hum Genet. 2010. PMID: 20598279 Free PMC article.
Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.
Ramos L, del Rey J, Daina G, García-Aragonés M, Armengol L, Fernandez-Encinas A, Parriego M, Boada M, Martinez-Passarell O, Martorell MR, Casagran O, Benet J, Navarro J. Ramos L, et al. Among authors: armengol l. PLoS One. 2014 Nov 21;9(11):e113223. doi: 10.1371/journal.pone.0113223. eCollection 2014. PLoS One. 2014. PMID: 25415307 Free PMC 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: armengol l. 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.
Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia.
Salaverria I, Martín-Garcia D, López C, Clot G, García-Aragonés M, Navarro A, Delgado J, Baumann T, Pinyol M, Martin-Guerrero I, Carrió A, Costa D, Queirós AC, Jayne S, Aymerich M, Villamor N, Colomer D, González M, López-Guillermo A, Campo E, Dyer MJ, Siebert R, Armengol L, Beà S. Salaverria I, et al. Among authors: armengol l. Genes Chromosomes Cancer. 2015 Nov;54(11):668-80. doi: 10.1002/gcc.22277. Epub 2015 Aug 25. Genes Chromosomes Cancer. 2015. PMID: 26305789 Free PMC article.
73 results