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Page 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. 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.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, Chowen JA, Pérez-Jurado LA, Argente J. Serra-Juhé C, et al. Int J Obes (Lond). 2020 Apr;44(4):830-841. doi: 10.1038/s41366-019-0357-5. Epub 2019 Mar 29. Int J Obes (Lond). 2020. PMID: 30926952 Free PMC article.
DNA methylation abnormalities in congenital heart disease.
Serra-Juhé C, Cuscó I, Homs A, Flores R, Torán N, Pérez-Jurado LA. Serra-Juhé C, et al. Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536. Epigenetics. 2015. PMID: 25587870 Free PMC article.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
Rodríguez-Santiago B, Brunet A, Sobrino B, Serra-Juhé C, Flores R, Armengol L, Vilella E, Gabau E, Guitart M, Guillamat R, Martorell L, Valero J, Gutiérrez-Zotes A, Labad A, Carracedo A, Estivill X, Pérez-Jurado LA. Rodríguez-Santiago B, et al. Mol Psychiatry. 2010 Oct;15(10):1023-33. doi: 10.1038/mp.2009.53. Epub 2009 Jun 16. Mol Psychiatry. 2010. PMID: 19528963
30 results