Mostrando 10 resultados de: 46
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Forensic Science International: Genetics Supplement Series(21)
BioMed Research International(3)
Frontiers in Cardiovascular Medicine(2)
PLoS Computational Biology(2)
Scientific Reports(2)
Genomic 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:scopusClinical, 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:Alexandra Patricia Guevara, Anibal Gaviria, Cevallos F., Elius Paz-Cruz, Rafael Tamayo Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusHuman virome: Implications in cancer
ReviewAbstract: In recent years, the human virome has gained importance, especially after the SARS-CoV-2 pandemic, dPalabras claves:Cáncer, Human virome, metagenomics, microbiotaAutores:Alexandra Patricia Guevara, Elius Paz-Cruz, 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:googlescopusCase 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:scopusDifferential microRNA expression for diagnosis and prognosis of papillary thyroid cancer
OtherAbstract: Papillary thyroid cancer accounts for 85% of thyroid cancer. The diagnosis is based on ultrasound mePalabras claves:Biomarkers, diagnosis, miRNAs, papillary thyroid cancer, tumorigenesisAutores:Alexandra Patricia Guevara, Elius Paz-Cruz, Rafael Tamayo Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusMolecular analysis of ancestry informative markers (AIMs-INDELs) in a high altitude Ecuadorian mestizo population affected with breast cancer
ArticleAbstract: Breast cancer (BC) is the leading cause of cancer-related death among women. BC is a heterogeneous dPalabras claves:Ancestry informative markers, Breast Cancer, Ecuadorian populationAutores:Alejandro Cabrera-Andrade, Ana Karina Zambrano , Andrés López-Cortés, Carolina Salazar, Cesar Paz-y-Miño, Echeverría-Garcés G., Germán Burgos, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. LeoneFuentes:googlescopusGenetic data of an X-STR decaplex in Ecuadorian population (P)
ArticleAbstract: X-chromosomal STRs have proven to be an efficient complement in some complex paternity or forensic cPalabras claves:Complex paternity or forensic cases, Ecuadorian population, X-STRAutores:Ana Karina Zambrano , Anibal Gaviria, Castillo G., Galarza J., Margarita Vela, Morejon G., Pastas V.Fuentes:scopusMutation rates for 29 short tandem repeat loci from the Ecuadorian population
ArticleAbstract: Short tandem repeats (STRs) are sequences that involve repetitive units of 1–6 bp. Therefore, this sPalabras claves:ecuadorian, Mutation rates, STRsAutores:Ana Karina Zambrano , Anibal Gaviria, Builes J.J., Fiallos G., Gruezo C., Margarita Vela, S. CobosFuentes:scopus