Pérez-Jurado LA - Search Results

1

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA. Antonell A, et al. J Med Genet. 2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5. J Med Genet. 2010. PMID: 19897463

2

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.

Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. Pérez Jurado LA, et al. Hum Mol Genet. 1998 Mar;7(3):325-34. doi: 10.1093/hmg/7.3.325. Hum Mol Genet. 1998. PMID: 9466987

3

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.

Peoples R, Franke Y, Wang YK, Pérez-Jurado L, Paperna T, Cisco M, Francke U. Peoples R, et al. Am J Hum Genet. 2000 Jan;66(1):47-68. doi: 10.1086/302722. Am J Hum Genet. 2000. PMID: 10631136 Free PMC article.

4

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.

5

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.

Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR. Scherer SW, et al. Hum Genet. 2005 Aug;117(4):383-8. doi: 10.1007/s00439-005-1325-9. Epub 2005 Jun 3. Hum Genet. 2005. PMID: 15933846 Free PMC article.

6

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.

Antonell A, de Luis O, Domingo-Roura X, Pérez-Jurado LA. Antonell A, et al. Genome Res. 2005 Sep;15(9):1179-88. doi: 10.1101/gr.3944605. Genome Res. 2005. PMID: 16140988 Free PMC article.

7

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.

8

[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.

9

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.

10

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

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