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Forensic Science International: Genetics Supplement Series(2)
Frontiers in Cardiovascular Medicine(2)
American Journal of Physical Anthropology(1)
Forensic Science International: Genetics(1)
Frontiers in Nutrition(1)
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 hebkp_reditary disorders. It isPalabras claves:Chromosomal translocation, Hemophilia A, Klinefelter SyndromeAutores:Ana Karina Zambrano, Anibal Gaviria, Cevallos F., Elius Paz-Cruz, P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusAn approach to maternal ancestry in a sample of Ecuadorian “mestizo” population by sequencing the control region of mtDNA
ArticleAbstract: Mitochondrial DNA analysis has proven to be a powerful tool to study maternal inheritance among popuPalabras claves:CR mtDNA, ECUADOR, Maternal lineages, Native AmericaAutores:Alejandra Garzón-Salazar, Byron Freirepaspuel, Elius Paz-Cruz, Fagundes de Carvalho E., Germán Burgos, Gusmão L., J. I. Yepez-Santos, Rodrigo Flores-Espinoza, Simão F.Fuentes:googlescopusA look of paternal ancestry in a sample of Ecuadorian “MESTIZO” population analyzed through PowerPlex Y23
ArticleAbstract: Ecuadorian population is mainly composed of Mestizos, an ethnic group whose origins date back to admPalabras claves:DIVERSITY, ECUADOR, Haplogroup pbkp_rediction, Y-STRAutores:Alejandra Garzón-Salazar, C. Ávila, Elius Paz-Cruz, Germán Burgos, K. M. Maldonado-Uquillas, Ma A. ToscanoFuentes: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:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Rodríguez A.A., P. Guevara-Ramírez, 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:Ana Karina Zambrano, Daniel Simancas-Racines, Elius Paz-Cruz, P. Guevara-Ramírez, 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:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusPaternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study
ArticleAbstract: The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included inPalabras claves:Argus kit, Mutation rate, Population database, X chromosomeAutores:Bento A., Berardi G., Bobillo C., Brito P., Cano H., Cicarelli R.M.B., Díez-Juárez L., Elius Paz-Cruz, Fagundes de Carvalho E., Fernandez A., Furfuro S., García M.G., Germán Burgos, Gusmão L., Januario B., Loiola S., Marcucci V., Maxzud M., Modesti N.M., Pereira V., Pinto N., Pontes M.d.L., Sumita D., Tomas C., Vannelli S.Fuentes:googlescopusIdentification 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:Ana Karina Zambrano, Eddy P Lincango Naranjo, Elius Paz-Cruz, Garcia C., Godoy R., Lincango-Naranjo E.P., P. Guevara-Ramírez, 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