Pérez-Jurado LA - Search Results

1

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.

González JR, Rodríguez-Santiago B, Cáceres A, Pique-Regi R, Rothman N, Chanock SJ, Armengol L, Pérez-Jurado LA. González JR, et al. BMC Bioinformatics. 2011 May 17;12:166. doi: 10.1186/1471-2105-12-166. BMC Bioinformatics. 2011. PMID: 21586113 Free PMC article.

2

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

Lladó A, Rodríguez-Santiago B, Antonell A, Sánchez-Valle R, Molinuevo JL, Reñé R, Pérez-Jurado LA. Lladó A, et al. Neurosci Lett. 2007 Aug 31;424(1):61-5. doi: 10.1016/j.neulet.2007.07.008. Epub 2007 Aug 1. Neurosci Lett. 2007. PMID: 17707586

3

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M. Madrigal I, et al. BMC Genomics. 2007 Nov 29;8:443. doi: 10.1186/1471-2164-8-443. BMC Genomics. 2007. PMID: 18047645 Free PMC article.

4

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.

Solé X, Hernández P, de Heredia ML, Armengol L, Rodríguez-Santiago B, Gómez L, Maxwell CA, Aguiló F, Condom E, Abril J, Pérez-Jurado L, Estivill X, Nunes V, Capellá G, Gruber SB, Moreno V, Pujana MA. Solé X, et al. BMC Genomics. 2008 Jan 11;9:12. doi: 10.1186/1471-2164-9-12. BMC Genomics. 2008. PMID: 18190704 Free PMC article.

5

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V. Font-Llitjós M, et al. Eur J Hum Genet. 2009 Jan;17(1):71-9. doi: 10.1038/ejhg.2008.145. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716612 Free PMC article.

6

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Cuscó I, et al. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. Hum Mol Genet. 2009. PMID: 19246517 Free PMC article.

7

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

8

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. 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.

9

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.

Marenne G, Rodríguez-Santiago B, Closas MG, Pérez-Jurado L, Rothman N, Rico D, Pita G, Pisano DG, Kogevinas M, Silverman DT, Valencia A, Real FX, Chanock SJ, Génin E, Malats N. Marenne G, et al. Hum Mutat. 2011 Feb;32(2):240-8. doi: 10.1002/humu.21398. Epub 2011 Jan 25. Hum Mutat. 2011. PMID: 21089066 Free PMC article.

10

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

Hehir-Kwa JY, Rodríguez-Santiago B, Vissers LE, de Leeuw N, Pfundt R, Buitelaar JK, Pérez-Jurado LA, Veltman JA. Hehir-Kwa JY, et al. J Med Genet. 2011 Nov;48(11):776-8. doi: 10.1136/jmedgenet-2011-100147. Epub 2011 Oct 3. J Med Genet. 2011. PMID: 21969336

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