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Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report
ArticleAbstract: Background: Hemophilia A is considered one of the most common severe hereditary disorders. It is anPalabras claves:Chromosomal translocation, Hemophilia A, Klinefelter SyndromeAutores:, Alexandra Patricia Guevara, Anibal Gaviria, Cevallos F., Elius Paz-Cruz, Rafael Tamayo Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusCase report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose
ArticleAbstract: Introduction: Genomic screening is an informative and helpful tool for the clinical management of inPalabras claves:ancestral, Cardiovascular disease, Case report, Genetics, genomicAutores:, Alexandra Patricia Guevara, Doménech N., Elius Paz-Cruz, Ibarra-Rodríguez A.A., Rafael Tamayo Trujillo, Sánchez Insuasty T., Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusGenetics, genomics, and diet interactions in obesity in the Latin American environment
ReviewAbstract: Obesity is a chronic disease characterized by abnormal or excessive fat accumulation that could impaPalabras claves:Latin America, nutrigenetics, nutrigenomic, obesity, SNPsAutores:, Alexandra Patricia Guevara, Daniel Simancas-Racines, Elius Paz-Cruz, Rafael Tamayo Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusGenomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
ArticleAbstract: Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide rangPalabras claves:Cardiovascular disease, genome, LMNA, NGS, Precision MedicineAutores:, Alexandra Patricia Guevara, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., Rafael Tamayo Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusIdentification of KIT and BRAF mutations in thyroid tissue using next-generation sequencing in an Ecuadorian patient: A case report
ArticleAbstract: Background: The incidence of thyroid cancer has increased worldwide. Ecuador presents the highest inPalabras claves:Cáncer, Case report, Genomics, MESTIZO, thyroidAutores:, Alexandra Patricia Guevara, Eddy P Lincango Naranjo, Elius Paz-Cruz, Garcia C., Godoy R., Lincango-Naranjo E.P., Paola Solis-Pazmino, Rafael Tamayo Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:googlescopusInvestigating genetic diversity in admixed populations from Ecuador
ArticleAbstract: Objectives: According to demographic history, Ecuador has experienced shifts in its Native AmericanPalabras claves:Indels, linkage disequilibrium, MESTIZO, STRs, X chromosomeAutores:Alejandro Cabrera-Andrade, Elius Paz-Cruz, Germán Burgos, Gusmão L., Lopez-Carrera M., Rodrigo Flores-Espinoza, Viviana A. Ruiz-PozoFuentes:googlescopus