Ruiz-Ponte C - Search Results

1

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C. Feliubadaló L, et al. Among authors: ruiz ponte c. Clin Chem. 2021 Mar 1;67(3):518-533. doi: 10.1093/clinchem/hvaa250. Clin Chem. 2021. PMID: 33280026 Free article.

2

Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer.

Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López-Cerón M, Pellise M, Castellví-Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Moreira L, et al. Cancer. 2015 May 1;121(9):1395-404. doi: 10.1002/cncr.29190. Epub 2014 Dec 29. Cancer. 2015. PMID: 25557234 Free PMC article.

3

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

4

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.

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

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.

9

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

10

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Gómez-Fernández N, Castellví-Bel S, Fernández-Rozadilla C, Balaguer F, Muñoz J, Madrigal I, Milà M, Graña B, Vega A, Castells A, Carracedo A, Ruiz-Ponte C. Gómez-Fernández N, et al. BMC Med Genet. 2009 Jun 16;10:57. doi: 10.1186/1471-2350-10-57. BMC Med Genet. 2009. PMID: 19531215 Free PMC article.

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