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Human Mutation(2)
American Journal of Hematology(1)
Breast Cancer Research and Treatment(1)
British Journal of Cancer(1)
Cancer Letters(1)
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Anatomía humana, citología, histología(3)
Fisiología humana(3)
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scopus(14)
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:scopusLactic acid and lactoserum in vulvovaginal infections
ArticleAbstract: Background: The discomfort of vaginal infection symptoms is a frequent cause of medical consultationPalabras claves:Associated symptoms, lactic acid, Vulvovaginal infectionAutores:Adame R., Aguirre R., Ahedo C., Alanis L., Alemán N., Altamirano J., Alvarado F., Arévalo E., Arguello J., Arias R., Arredondo M., Arriaga M., Ávila J., Bautista O., Becerril E., Bernardino C., Bohorquez M., Bravo L., Bravo M.D.L.L., Camacho M., Cano H., Cano M., Cantú C., Cerna J., Chang M., Chavarría A., Chung R., Coronel L., Cruz J., Cu M., Daysi Navarro, De Luna M., Deolarte M., Díaz A., Domínguez G., Dueñas C., Echavarría J., Escobar A., Flores A., Flores E., Frolina E., Gallegos J., Garza L., Garzón R., Gil M., Gómez C., Gómez I., González A., González L., González M., González S., Guadarrama G., Hernández A., Hernández J., Hernández S., Hernández-López L.A., Herrera J., Herrera L., Ibarra L., Jaramillo M., Jauregui A., Jiménez C., Jiménez J., Jiménez R., Larios G., Licona H., Limon M., Lobos A., López C., López R., Loria M., Marín R., Martínez M., Mora R., Moreno M., Morfín J., Murillo J., Negrete J., Nery H., Nieto E., Padilla A., Padilla R., Peña P., Peñoñuri J., Pérez J., Pérez L., Pío G., Prado L., Ramos C., Raquel Salazar-Lugo, Rivas M., Rivera J., Rodríguez R., Roffe C., Rojas G., Rosales A., Ruiz D., Ruiz V., Salazar A., Salgado G.Fuentes:scopusHematological and clinical profile in sickle cell or thalassemic patients
ArticleAbstract: Clinical and hematological characteristics of 14 patients with sickle cell anemia; one heterozygousPalabras claves:Sickle cell anemia, Sucre state, Thalassemia, VENEZUELAAutores:Raquel Salazar-Lugo, Vilachá D.Fuentes: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: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