Documentos de González-Sarmiento R. | REDI

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Mostrando 5 resultados de: 5

Filtros aplicados

Área de conocimiento: "Genética"

Subtipo de publicación

Publisher

Cancer Letters(1)

Clinical Chemistry(1)

Human Mutation(1)

International Journal of Cancer(1)

Área temáticas

Enfermedades(5)

Anatomía humana, citología, histología(2)

Fisiología humana(1)

Ginecología, obstetricia, pediatría, geriatría(1)

Año de Publicación

Origen

Palabras Claves

Autoimmune thyroid disease(1)

Autoimmune thyroiditis(1)

BRCA1-2 mutations in breast cancer: Identification of nine new variants of BRCA1-2 genes in a population from central Western Spain

Abstract: We carried out a mutational analysis of BRCA1 and BRCA2 genes in 103 individuals from a population i

Palabras claves:

BRCA1, BRCA2, Familial breast cancer, Pathogenic mutations, Silent mutations, Unclassified variants

Barco E., Cruz-Hernandez J.J., Fonseca E., Gomez-Bernal A., González-Sarmiento R., Portugal T., Raquel Salazar-Lugo, Rodríguez-Sánchez C.A., Sánchez-Valdivieso E.A.

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

Abstract: We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them

Palabras claves:

BRCA1, BRCA2, Breast cancer, hebkp_reditary, Cáncer, Spanish

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.

Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis

Abstract: The autoimmune thyroid disease is a complex disorder caused by a combination of genetic susceptibili

Palabras claves:

Autoimmune thyroid disease, Autoimmune thyroiditis, Genotype analysis, polymorphism, Thyroglobulin gene

Caputo M., Corrales J.J., González-Sarmiento R., Miralles-García J.M., Mories T., Purificación Galindo-Villardón, Rivolta C.M., Targovnik H.M.

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer

Abstract: Background: Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 di

Palabras claves:

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.

The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

Abstract: Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized.

Palabras claves:

BRCA1/2, Breast Cancer, RAD51D

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.