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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:scopusBiochemical and nutritional factors associated with blood viscosity in adults living in a mountain chain, (Imbabura), Ecuador
ArticleAbstract: The association of blood viscosity (BV) with hypertension and diabetes mellitus type 2 indicates thaPalabras claves:Blood viscosity, dyslipidemia, ECUADOR, Hyperviscosity, Metabolic syndromeAutores:Amparito-Del-Rosario Barahona-Meneses, Cándida Victoria, Manuel Santamaría, Mariana Oleas, Raquel Salazar-Lugo, Yesenia TarupiFuentes: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:scopusEffect of consumption of tree tomato juice (Cyphomandra betacea) on lipid profile and glucose concentrations in adults with hyperlipidemia, Ecuador
ArticleAbstract: In this work the effect of consumption of tree tomato juice (Cyphomandra betacea) was evaluated on nPalabras claves:CYPHOMANDRA BETACEA, ECUADOR, Hyperlipidemia, Hypoglycemic, lipid profile, tree tomatoAutores:Amparito-Del-Rosario Barahona-Meneses, Bélgica Bermeo, Cynthia Chávez, Hilda Salas, Jimmy Méndez, Katherine Ortiz, Manuel Santamaría, Mariana Oleas, Paola Freire, Raquel Salazar-LugoFuentes: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: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 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:scopus