de la Hoya M - Search Results

1

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Whiley PJ, et al. Among authors: de leeneer k, de garibay gr, de vecchi g, de la hoya m. Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8. Clin Chem. 2014. PMID: 24212087 Free PMC article.

2

Denaturing gradient gel electrophoresis-based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from nonpathogenic polymorphisms.

de La Hoya M, Díaz-Rubio E, Caldés T. de La Hoya M, et al. Clin Chem. 1999 Nov;45(11):2028-30. Clin Chem. 1999. PMID: 10545082 No abstract available.

3

Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.

Osorio A, de la Hoya M, Rodríguez-López R, Martínez-Ramírez A, Cazorla A, Granizo JJ, Esteller M, Rivas C, Caldés T, Benítez J. Osorio A, et al. Among authors: de la hoya m. Int J Cancer. 2002 May 10;99(2):305-9. doi: 10.1002/ijc.10337. Int J Cancer. 2002. PMID: 11979449

4

Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population.

de la Hoya M, Sulleiro S, Osorio A, Díez O, Baiget M, Benítez J, Díaz-Rubio E, Caldés T. de la Hoya M, et al. Int J Cancer. 2002 Aug 10;100(5):618-9. doi: 10.1002/ijc.10527. Int J Cancer. 2002. PMID: 12124814

5

No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families.

Rodríguez-López R, Osorio A, Sánchez-Pulido L, De La Hoya M, Barroso A, Caldés T, Benítez J. Rodríguez-López R, et al. Among authors: de la hoya m. Int J Cancer. 2003 Jan 1;103(1):136-7. doi: 10.1002/ijc.10766. Int J Cancer. 2003. PMID: 12455067 No abstract available.

6

Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.

Osorio A, de la Hoya M, Rodríguez-López R, Granizo JJ, Díez O, Vega A, Durán M, Carracedo A, Baiget M, Caldés T, Benítez J. Osorio A, et al. Among authors: de la hoya m. Eur J Hum Genet. 2003 Jun;11(6):489-92. doi: 10.1038/sj.ejhg.5200969. Eur J Hum Genet. 2003. PMID: 12774043

7

Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics.

de la Hoya M, Díez O, Pérez-Segura P, Godino J, Fernández JM, Sanz J, Alonso C, Baiget M, Díaz-Rubio E, Caldés T. de la Hoya M, et al. J Med Genet. 2003 Jul;40(7):503-10. doi: 10.1136/jmg.40.7.503. J Med Genet. 2003. PMID: 12843322 Free PMC article.

8

The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population.

Osorio A, Rodríguez-López R, Díez O, de la Hoya M, Ignacio Martínez J, Vega A, Esteban-Cardeñosa E, Alonso C, Caldés T, Benítez J. Osorio A, et al. Among authors: de la hoya m. Int J Cancer. 2004 Jan 1;108(1):54-6. doi: 10.1002/ijc.11414. Int J Cancer. 2004. PMID: 14618615

9

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.

Rodríguez-López R, Osorio A, Ribas G, Pollán M, Sánchez-Pulido L, de la Hoya M, Ruibal A, Zamora P, Arias JI, Salazar R, Vega A, Martínez JI, Esteban-Cardeñosa E, Alonso C, Letón R, Urioste Azcorra M, Miner C, Armengod ME, Carracedo A, González-Sarmiento R, Caldés T, Díez O, Benítez J. Rodríguez-López R, et al. Among authors: de la hoya m. Int J Cancer. 2004 Jul 20;110(6):845-9. doi: 10.1002/ijc.20169. Int J Cancer. 2004. PMID: 15170666

10

Lack of germ-line mutations at the specific BRCA1-IRIS coding sequence in 114 Spanish high-risk breast/ovarian families.

de la Hoya M, Fernández JM, Sánchez de Abajo A, Tosar A, Díaz-Rubio E, Caldés T. de la Hoya M, et al. Fam Cancer. 2005;4(4):317-9. doi: 10.1007/s10689-005-1236-x. Fam Cancer. 2005. PMID: 16341810

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