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Grupo de Medicina Xenómica

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  • Cameselle-Teijeiro J, Abdulkader I, Barreiro-Morandeira F, Ruiz-Ponte C, Reyes-Santías R, Chavez E, Sobrinho-Simoes M. Breast tumor resembling the tall cell variant of papillary thyroid carcinoma. International Journal of Surgical Pathology (aceptada).
  • Ruiz-Ponte C, Carracedo A. Barros F. Duplication and deletion analysis by fluorescent real-time PCR-based genotyping Clin Chim Acta. 2006 Jan; 363(1-2):138-46. Epub 2005 Sep 8
  • Begoña Graña, Ana Vega, Juan Cueva. Cáncer de mama y ovario hereditario: consejo genético, seguimiento y reducción de riesgo. Psicooncología. Vol. 2, Núm. 2-3, 2005, pp. 229-242
  • Ribas G, Gonzalez-Neira A, Salas A, Milne RL, Vega A, Carracedo B, Gonzalez E, Barroso E, Fernandez LP, Yankilevich P, Robledo M, Carracedo A, Benitez J. Hum Genet. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. 2005 Dec 2;:1-11 [Epub ahead of print]
  • Salas A, Yao YG, Macaulay V, Vega A, Carracedo A, Bandelt HJ. A Critical Reassessment of the Role of Mitochondria in Tumorigenesis. PLoS Med. 2005 Oct 4;2(11):e296 [Epub ahead of print]
  • Lareu MV, Ruiz-Ponte C. Genotyping SNPs with the LightCycler. Methods Mol Biol. 2005;297:127-40
  • Woenckhaus C, Cameselle-Teijeiro J, Ruiz-Ponte C, Abdulkader I, Reyes-Santias R, Sobrinho-Simoes M. Spindle cell variant of papillary thyroid carcinoma. Histopathology. 2004 Oct;45(4):424-7. No abstract available.
  • Rodriguez-Lopez R, Osorio A, Ribas G, Pollan M, Sanchez-Pulido L, de la Hoya M, Ruibal A, Zamora P, Arias JI, Salazar R, Vega A, Martinez JI, Esteban-Cardenosa E, Alonso C, Leton R, Urioste Azcorra M, Miner C, Armengod ME, Carracedo A, Gonzalez-Sarmiento R, Caldes T, Diez O, Benitez J. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int J Cancer. 2004 Jul 20;110(6):845-9.
  • Ruiz-Ponte C, Vega A, Loidi L, Carracedo A, Barros F. Rapid detection of gene duplications in Charcot-Marie-Tooth 1A disease by SNP genotyping using real time PCR. Cycle Real-Time PCR - Methods and Applications. Quantification, pp:159-169. (Eds: Carl Wittwer, Meinhard Hahn, Karen Kaul) Springer Verlag Berlin, Heidelberg, New York 2004. ISBN 3-540-20629-6.
  • Vega A, Salas A, Gamborino E, Sobrido MJ, Macaulay V, Carracedo A. mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations. Oncogene. 2004 Feb 12;23(6):1314-20.
  • Osorio A, Rodriguez-Lopez R, Diez O, de la Hoya M, Ignacio Martinez J, Vega A, Esteban-Cardenosa E, Alonso C, Caldes T, Benitez J. The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer. 2004 Jan 1;108(1):54-6.
  • Vega A, Torres J, Torres M, Cameselle-Teijeiro J, Macia M, Carracedo A,Pulido R. A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. J Invest Dermatol. 2003 Dec;121(6):1356-9.
  • Martinez-Ferrandis JI, Vega A, Chirivella I, Marin-Garcia P, Insa A, Lluch A, Carracedo A, Chaves FJ, Garcia-Conde J, Cervantes A, Armengod ME. Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. Hum Mutat. 2003 Nov;22(5):417-8.
  • Diez O, Osorio A, Duran M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodriguez-Lopez R, Velasco E, Chaves J, Diaz-Rubio E, Jesus Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Roman JM, Gonzalez-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, Caldes T,Benitez J, Baiget M. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat. 2003 Oct;22(4):301-12.
  • Ruiz-Ponte C, Loidi L, Vega A, Carracedo A, Barros F. Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions. Molecular Testing in Laboratory Medicine, pp: 45-53. (Eds. David E. Bruns, Y.M. Dennis Lo, Carl T. Wittwer) American Association for Clinical Chemistry, Inc. AACC Press Washington. 2002. ISBN:1-890883-60-3.
  • Vega A, Torres M, Martinez JI, Ruiz-Ponte C, Barros F, Carracedo A. Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. Ann Hum Genet. 2002 Jan;66(Pt 1):29-36.
  • Vega A, Sobrido MJ, Ruiz-Ponte C, Barros F, Carracedo A. Rare HRAS1 alleles are a risk factor for the development of brain tumors. Cancer. 2001 Dec 1;92(11):2920-6.
  • Ruiz-Ponte C, Vega A, Conde R, Barros F, Carracedo A. The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications. J Med Genet. 2001 Oct;38(10):E33.
  • Ruiz-Ponte C, Vega A, Carracedo A, Barros F. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer. Hum Mutat. 2001 Oct;18(4):355.
  • Vega A, Barros F, Lleonart ME, Ramon y Cajal S, Carracedo A. HRAS1 minisatellite alleles in colorectal carcinoma: relationship to microsatelite instability. Anticancer Res. 2001 Jul-Aug;21(4A):2855-60.
  • Vega A, Salas A, Costas J, Barros F, Carracedo A. Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationships. Ann Hum Genet. 2001 Jul;65(Pt 4):351-61.
  • Vega A, Campos B, Bressac-De-Paillerets B, Bond PM, Janin N, Douglas FS,Domenech M, Baena M, Pericay C, Alonso C, Carracedo A, Baiget M, Diez O. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 2001 Jun;17(6):520-1.
  • Cameselle-Teijeiro J, Ruiz-Ponte C, Loidi L, Suarez-Penaranda J, Baltar J, Sobrinho-Simoes M. Somatic but not germline mutation of the APC gene in a case of cribriform-morular variant of papillary thyroid carcinoma. Am J Clin Pathol. 2001 Apr;115(4):486-93.
  • Ruiz-Ponte C, Loidi L, Vega A, Carracedo A, Barros F. 2000. Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions. Clinical Chemistry 46 (10) : 1574-1582
  • Ruiz-Ponte C, Vega A, Loidi L, Carracedo A, Barros, F. 1999 . Human Gene Mutations: APC, Familial Adenomatous Polyposis. Human Genetics 105:372.



Last Updated ( jueves, 15 febrero 2007 )