Carracedo A - Search Results

1

Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

Blanco A, Graña B, Fachal L, Santamariña M, Cameselle-Teijeiro J, Ruíz-Ponte C, Carracedo A, Vega A. Blanco A, et al. Among authors: carracedo a. Clin Genet. 2010 Feb;77(2):193-6. doi: 10.1111/j.1399-0004.2009.01309.x. Epub 2009 Nov 23. Clin Genet. 2010. PMID: 19930417 No abstract available.

2

Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula.

Vega A, Torres M, Martínez JI, Ruiz-Ponte C, Barros F, Carracedo A. Vega A, et al. Among authors: carracedo a. Ann Hum Genet. 2002 Jan;66(Pt 1):29-36. doi: 10.1017/S0003480001001014. Ann Hum Genet. 2002. PMID: 12014998

3

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.

Fachal L, Santamariña M, Blanco A, Carracedo A, Vega A. Fachal L, et al. Among authors: carracedo a. Clin Transl Oncol. 2013 Feb;15(2):164-5. doi: 10.1007/s12094-012-0967-z. Epub 2012 Nov 13. Clin Transl Oncol. 2013. PMID: 23150219 No abstract available.

4

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Brea-Fernández AJ, Cameselle-Teijeiro JM, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé JM, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C. Brea-Fernández AJ, et al. Among authors: carracedo a. Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23837913

5

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. Among authors: carracedo a. 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.

6

The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications.

Ruiz-Ponte C, Vega A, Conde R, Barros F, Carracedo A. Ruiz-Ponte C, et al. Among authors: carracedo a. J Med Genet. 2001 Oct;38(10):E33. doi: 10.1136/jmg.38.10.e33. J Med Genet. 2001. PMID: 11584047 Free PMC article. No abstract available.

7

Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.

Martínez-Ferrandis JI, Vega A, Chirivella I, Marín-García P, Insa A, Lluch A, Carracedo A, Chaves FJ, García-Conde J, Cervantes A, Armengod ME. Martínez-Ferrandis JI, et al. Among authors: carracedo a. Hum Mutat. 2003 Nov;22(5):417-8. doi: 10.1002/humu.9188. Hum Mutat. 2003. PMID: 14517958

8

BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency.

Fernandez-Rozadilla C, Brea-Fernández A, Bessa X, Alvarez-Urturi C, Abulí A, Clofent J, Payá A; EPICOLON Consortium; Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo A, Castellví-Bel S, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Among authors: carracedo a. Clin Genet. 2013 Jul;84(1):94-6. doi: 10.1111/cge.12023. Epub 2012 Oct 12. Clin Genet. 2013. PMID: 23057600 No abstract available.

9

Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions.

Ruiz-Ponte C, Loidi L, Vega A, Carracedo A, Barros F. Ruiz-Ponte C, et al. Among authors: carracedo a. Clin Chem. 2000 Oct;46(10):1574-82. Clin Chem. 2000. PMID: 11017934

10

Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.

Ruiz-Ponte C, Vega A, Carracedo A, Barros F. Ruiz-Ponte C, et al. Among authors: carracedo a. Hum Mutat. 2001 Oct;18(4):355. doi: 10.1002/humu.1198. Hum Mutat. 2001. PMID: 11668620

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