Ruíz-Ponte C - Search Results

1

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

Filippini S, Blanco A, Fernández-Marmiesse A, Alvarez-Iglesias V, Ruíz-Ponte C, Carracedo A, Vega A. Filippini S, et al. BMC Med Genet. 2007 Jun 29;8:40. doi: 10.1186/1471-2350-8-40. BMC Med Genet. 2007. PMID: 17603881 Free PMC article.

2

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. Clin Chem. 2000 Oct;46(10):1574-82. Clin Chem. 2000. PMID: 11017934

3

Rapid genotyping of the M129V polymorphism of prion protein using real-time fluorescent PCR.

Vega A, Ruiz-Ponte C, Carracedo A, Barros F. Vega A, et al. Clin Chem. 2001 Oct;47(10):1874-5. Clin Chem. 2001. PMID: 11568112 No abstract available.

4

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. 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.

5

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. Hum Mutat. 2001 Oct;18(4):355. doi: 10.1002/humu.1198. Hum Mutat. 2001. PMID: 11668620

6

Rare HRAS1 alleles are a risk factor for the development of brain tumors.

Vega A, Sobrido MJ, Ruiz-Ponte C, Barros F, Carracedo A. Vega A, et al. Cancer. 2001 Dec 1;92(11):2920-6. Cancer. 2001. PMID: 11753967

7

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. Ann Hum Genet. 2002 Jan;66(Pt 1):29-36. doi: 10.1017/S0003480001001014. Ann Hum Genet. 2002. PMID: 12014998

8

Duplication and deletion analysis by fluorescent real-time PCR-based genotyping.

Ruiz-Ponte C, Carracedo A, Barros F. Ruiz-Ponte C, et al. Clin Chim Acta. 2006 Jan;363(1-2):138-46. doi: 10.1016/j.cccn.2005.05.044. Epub 2005 Sep 8. Clin Chim Acta. 2006. PMID: 16153621 Review.

9

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Leon-Mateos A, Ginarte M, Ruiz-Ponte C, Carracedo A, Toribio J. Leon-Mateos A, et al. Int J Dermatol. 2007 Jan;46(1):61-3. doi: 10.1111/j.1365-4632.2007.03066.x. Int J Dermatol. 2007. PMID: 17214723

10

Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement.

Rodríguez-Ares MT, Abdulkader I, Blanco A, Touriño-Peralba R, Ruiz-Ponte C, Vega A, Cameselle-Teijeiro J. Rodríguez-Ares MT, et al. Virchows Arch. 2007 Oct;451(4):815-21. doi: 10.1007/s00428-007-0481-9. Epub 2007 Aug 15. Virchows Arch. 2007. PMID: 17701212

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