Mostrando 10 resultados de: 11
Publisher
Forensic Science International(3)
Forensic Science International: Genetics Supplement Series(3)
Clinical Chemistry(1)
Drug Metabolism and Personalized Therapy(1)
Human Mutation(1)
Área temáticas
Bioquímica(5)
Enfermedades(4)
Farmacología y terapéutica(2)
Mammalia(2)
Medicina y salud(2)
Colombian results of the interlaboratory Quality Control Exercise 2009-2010
ArticleAbstract: Colombian Reference National Laboratory, GENES LTDA, have organized and coordinated for the past twoPalabras claves:COLOMBIA, Genes Ltda, Latin America, Quality control exerciseAutores:Aguirre D., Anibal Gaviria, Bravo M.L., Builes J.J., Carracedo Á., Castillo A., Cicarelli R.M.B., De Castro M., Díaz L.F., Fonseca D., Gavilan M., Guevara A., Gusmão L., Gutierrez A., Hudy L.D., Iannacone G.C., Ibarra A.A., Manrique A., Mendoza L., Muñoz M., Ossa H., Pareja L., Pineda C., Pinzón A., Puerto Y., Quiceno D., Roa M., Ruiz M., Sánchez D.L., Solís L.S., Trejos D.M., Ugalde N., Usaquén W.Fuentes:scopusAutosomal microsatellite data from Northwestern Colombia
ArticleAbstract: Allele frequencies and some forensic parameters for 12 autosomal microsatellites (CSF1PO, TPOX, THO1Palabras claves:COLOMBIA, microsatellites, Population dataAutores:Acosta M.A., Anibal Gaviria, Brion M., Carracedo Á., Ibarra A.A., Lareu M.V., Maya M.C., Ochoa L.M., Palacio O.D., Posada Y.C., Triana O.Fuentes:scopusAnalysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
ArticleAbstract: We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of themPalabras claves:BRCA1, BRCA2, Breast cancer, hebkp_reditary, Cáncer, SpanishAutores:Alonso C., Armengod M.E., Baiget M., Benitez J., Caldés T., Campos B., Carracedo Á., Cervantes A., Chaves J., Cruz-Hernandez J.J., De la Hoya M., Díaz-Rubio E., Díez O., Durán M., Esteban E., González-Sarmiento R., Martinez-Ferrandis J.I., Miner C., Osorio A., Raquel Salazar-Lugo, Rodríguez-López R., San Román J.M., Torres M., Vega A., Velasco E.Fuentes:scopusGenetic ancestry in Afro-descendants from the Andes and Pacific Coast regions of Ecuador
ArticleAbstract: This study aimed to investigate genetic diversity and ancestry in Afro-descendants from the Andes (APalabras claves:Afro-descendants, AIM-Indels, CR-mtDNA, ECUADOR, Y-STRsAutores:Alejandra Garzón-Salazar, Alejandro Cabrera-Andrade, Carracedo Á., Dayana Aguilar, Germán Burgos, Gomes V., Grace Gamboa, Gusmão L., Manuel H. Calvopina, Nguidi M., Rodrigo Flores-Espinoza, Seguro M., Simão F., SONIA ZAPATA MENAFuentes:googlescopusGenomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
ArticleAbstract: Background: Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 diPalabras claves:Autores:Benitez J., Caldés T., Carracedo Á., De la Hoya M., Díaz-Rubio E., Díez O., Esteban E., González-Sarmiento R., Gutiérrez-Enríquez S., Llort G., Miner C., Osorio A., Raquel Salazar-Lugo, Sánchez-de-Abajo A., Vega A., Velasco E.Fuentes:scopusHigh frequency and founder effect of the CYP3A4∗20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme
ArticleAbstract: Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have beenPalabras claves:Autores:Adrián LLerena, Apellániz-Ruiz M., Carracedo Á., Cascón A., Comino-Méndez I., Currás-Freixes M., De Cubas A.A., Grazina M., Ingelman-Sundberg M., Inglada-Pérez L., Mancikova V., Moya G.E., Naranjo M.E.G., Opocher G., Rasool M., Rebai A., Robledo M., Rodríguez-Antona C., Sánchez L., Taboada-Echalar P., Triki S.Fuentes:scopusThe variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
ArticleAbstract: Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized.Palabras claves:BRCA1/2, Breast Cancer, RAD51DAutores:Alonso C., Arias J.I., Armengod M.E., Azcorra M.U., Benitez J., Caldés T., Carracedo Á., De la Hoya M., Díez O., Esteban-Cardeñosa E., González-Sarmiento R., Letón R., Martínez J.I., Miner C., Osorio A., Pollán M., Raquel Salazar-Lugo, Ribas G., Rodríguez-López R., Ruibal A., Sánchez-Pulido L., Vega A., Zamora P.Fuentes:scopusNineteen autosomal microsatellite data from Antioquia (Colombia)
ArticleAbstract: Allele frequencies for 19 autosomal STRs (F13A01, FESFPS, F13B, LPL, D5S818, D7S820, THO1, TPOX, VWAPalabras claves:COLOMBIA, microsatellites, Population dataAutores:Acosta M.A., Anibal Gaviria, Brion M., Carracedo Á., Ibarra A.A., Jaramillo-Ocampo N., Palacio O.D.Fuentes:scopusY-chromosome haplotype analysis in Antioquia (Colombia)
ArticleAbstract: Allele frequencies and haplotype analysis have been performed for eight Y-chromosome STRs (DYS19, DYPalabras claves:COLOMBIA, Population data, short tandem repeats, Y-chromosomeAutores:Acosta M.A., Anibal Gaviria, Brion M., Carracedo Á., Ibarra A.A., Lareu M.V., Ochoa L.M., Palacio O.D., Posada Y.C., Triana O.Fuentes:scopusResults of the 2008 Colombian paternity testing quality control exercise
ArticleAbstract: The Reference National Laboratory, Genes Ltda, designated by the Commission of Accreditation and AlePalabras claves:Collaborative exercise, COLOMBIA, DNA profiling, Paternity testing, Quality control exerciseAutores:Aguirre D., Anibal Gaviria, Beltrán L., Bravo M.L., Builes J.J., Carracedo Á., Castillo A., Gusmão L., Ibarra A.A., Manrique A., Pineda C., Puerto Y., Sánchez D.L., Suárez D., Usaquén W.Fuentes:scopus