Mostrando 10 resultados de: 12
Filtros aplicados
Publisher
Human Mutation(2)
Investigación clínica(2)
American Journal of Hematology(1)
Breast Cancer Research and Treatment(1)
Cancer Letters(1)
Área temáticas
Enfermedades(10)
Farmacología y terapéutica(4)
Anatomía humana, citología, histología(3)
Bioquímica(3)
Fisiología humana(3)
Origen
scopus(12)
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information
ArticleAbstract: Classification of rare missense variants in disease susceptibility genes as neutral or disease-causiPalabras claves:BRCA1, classification model, Unclassified variantsAutores:Barroso A., Benitez J., De la Hoya M., Díez O., Honrado E., Milne R.L., Osorio A., Raquel Salazar-Lugo, Vega A.Fuentes:scopusBRCA1-2 mutations in breast cancer: Identification of nine new variants of BRCA1-2 genes in a population from central Western Spain
ArticleAbstract: We carried out a mutational analysis of BRCA1 and BRCA2 genes in 103 individuals from a population iPalabras claves:BRCA1, BRCA2, Familial breast cancer, Pathogenic mutations, Silent mutations, Unclassified variantsAutores: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.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:scopusDetection of beta thalassemia by the technique of refractory amplification of mutation systems (ARMS-PCR)
ArticleAbstract: beta Thalassemia (Thal) mutations were studied in DNA from 80/159 patients with hemolytic anemia andPalabras claves:Autores:Alvarez M., Arends A., Bravo M., Castillo O., Guevara J.M., Raquel Salazar-Lugo, Velázquez D.Fuentes:scopusDetermination of β-globin gene cluster haplotypes and prevalence of α- thalassemia in sickle cell anemia patients in Venezuela
ArticleAbstract: Sickle cell anemia and α-thalassemia have a heterogeneous distribution in Venezuela with a high freqPalabras claves:Sickle cell anemia, α-thalassemia, β-globin haplotypesAutores:Alvarez M., Arends A., Bravo M., Castillo O., Guevara J.M., Raquel Salazar-Lugo, Velázquez D.Fuentes:scopusGenomic 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:scopusHemoglobin S in the Venezuelan population
ReviewAbstract: Hemoglobin variants were introduced in Venezuela mainly by the descendants of African slaves; theirPalabras claves:Hemoglobin variants, S hemoglobin, VENEZUELA, βS globin haplotypesAutores:Raquel Salazar-LugoFuentes:scopusHemoglobin alamo [α<inf>2</inf>β2l9(b1)asn → asp] in a venezuelan family
ArticleAbstract:Palabras claves:Autores:Anchustegui M., Arends T., Castillo O., Garlín G., Maleh Y., Raquel Salazar-LugoFuentes:scopusHemoglobin variants and hematologic and serologic parameters of the population of El Limón (Aragua State, Venezuela)
ArticleAbstract: Nine hundred and fifty seven individuals from El Limon (Aragua State, Venezuela) were studied, in orPalabras claves:Autores:Arends T., Castillo O., Leal M., Polanco W., Raquel Salazar-Lugo, Tapia T.Fuentes:scopusParity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
ArticleAbstract: Environmental or lifestyle factors are likely to explain part of the heterogeneity in breast and ovaPalabras claves:BRCA1, BRCA2, Breast Cancer, Ovarian Cancer, parityAutores:Baiget M., Balmaña J., Benitez J., Blanco A., Blanco I., Caldés T., Calvo M.T., Chirivella I., De la Hoya M., Díaz-Rubio E., Durán M., Esteban-Cardeñosa E., Guillén-Ponce C., Lasa A., Lázaro C., Martínez De Dueñas E., Milne R.L., Miramar M.D., Osorio A., Ramón Y Cajal T., Raquel Salazar-Lugo, San Román C., Sánchez-Ollé G., Tejada M.I., Teulé A., Urioste M., Vega A., Velasco E.Fuentes:scopus