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Frontiers in Cardiovascular Medicine(2)
Frontiers in Medicine(1)
Frontiers in Oncology(1)
Heliyon(1)
Molecular Cytogenetics(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: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: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: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:Ana Karina Zambrano, Elius Paz-Cruz, P. Guevara-Ramírez, 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:Ana Karina Zambrano, Elius Paz-Cruz, P. Guevara-Ramírez, 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: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:googlescopus