Pérez-Jurado LA - Search Results

1

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Toma C, et al. Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6. Psychiatr Genet. 2013. PMID: 23277129

2

Evaluation of the Stag3 gene and the synaptonemal complex in a rat model (as/as) for male infertility.

Bayés M, Prieto I, Noguchi J, Barbero JL, Pérez Jurado LA. Bayés M, et al. Mol Reprod Dev. 2001 Nov;60(3):414-7. doi: 10.1002/mrd.1104. Mol Reprod Dev. 2001. PMID: 11599053

3

Mutational mechanisms of Williams-Beuren syndrome deletions.

Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA. Bayés M, et al. Am J Hum Genet. 2003 Jul;73(1):131-51. doi: 10.1086/376565. Epub 2003 Jun 9. Am J Hum Genet. 2003. PMID: 12796854 Free PMC article.

4

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Somerville MJ, et al. N Engl J Med. 2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. N Engl J Med. 2005. PMID: 16236740 Free PMC article.

5

[Williams syndrome: its clinical aspects and molecular bases].

Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. Antonell A, et al. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Rev Neurol. 2006. PMID: 16506136 Free article. Review. Spanish.

6

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Del Campo M, et al. Am J Hum Genet. 2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31. Am J Hum Genet. 2006. PMID: 16532385 Free PMC article.

7

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F. Villa O, et al. Am J Med Genet A. 2007 May 15;143A(10):1108-13. doi: 10.1002/ajmg.a.31709. Am J Med Genet A. 2007. PMID: 17431916

8

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA. Cuscó I, et al. Genome Res. 2008 May;18(5):683-94. doi: 10.1101/gr.073197.107. Epub 2008 Feb 21. Genome Res. 2008. PMID: 18292220 Free PMC article.

9

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA. Cuscó I, et al. BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27. BMC Med Genet. 2008. PMID: 18405349 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

197 results

Search Page