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Article(9)
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Forensic Science International(3)
Clinical Chemistry(1)
Forensic Science International: Genetics Supplement Series(1)
Human Mutation(1)
International Journal of Cancer(1)
Comparison of the genetic background of different Colombian populations using the SNPforID 52plex identification panel
ArticleAbstract: Various strategies for analysing SNP markers and genotyping have been published with the goal of obtPalabras claves:admixture, Degraded samples, identification, Population substructure, Single-base extension, SNPsAutores:Camacho M., Carracedo Á., Fondevila M., Freire-Aradas A., Germán Burgos, Gusmão L., Ibarra A.A., Martínez M., Ostos H., Santos S., Suarez Z.Fuentes:googlescopusAutosomal 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: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: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: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: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:scopus