Ruiz-Ponte C - Search Results

1

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Pérez-Carbonell L, et al. Gut. 2012 Jun;61(6):865-72. doi: 10.1136/gutjnl-2011-300041. Epub 2011 Aug 25. Gut. 2012. PMID: 21868491

2

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

3

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

4

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

5

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.

6

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

7

Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer.

Castellví-Bel S, Castells A, de Cid R, Muñoz J, Balaguer F, Gonzalo V, Ruiz-Ponte C, Andreu M, Llor X, Jover R, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Carracedo A, Piqué JM; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Castellví-Bel S, et al. Carcinogenesis. 2007 Aug;28(8):1687-91. doi: 10.1093/carcin/bgm098. Epub 2007 Apr 21. Carcinogenesis. 2007. PMID: 17449901

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

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.

10

Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.

Giráldez MD, Balaguer F, Caldés T, Sanchez-de-Abajo A, Gómez-Fernández N, Ruiz-Ponte C, Muñoz J, Garre P, Gonzalo V, Moreira L, Ocaña T, Clofent J, Carracedo A, Andreu M, Jover R, Llor X, Castells A, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Giráldez MD, et al. Fam Cancer. 2009;8(4):525-31. doi: 10.1007/s10689-009-9282-4. Epub 2009 Aug 15. Fam Cancer. 2009. PMID: 19685280

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