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Forensic Science International: Genetics Supplement Series(4)
BioMed Research International(2)
Frontiers in Cardiovascular Medicine(2)
BMC Medical Genomics(1)
Frontiers in Endocrinology(1)
Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR
ArticleAbstract: The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend onPalabras claves:Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Juan Carlos Ruiz-Cabezas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusClinical, 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:scopusClinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: A case report
ArticleAbstract: Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal rPalabras claves:CIPA, ecuadorian, Genomics analysis, Native American, NTRK1Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Echeverría B.A., Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAnalysis of Racial/Ethnic Representation in Select Basic and Applied Cancer Research Studies
ArticleAbstract: Over the past decades, consistent studies have shown that race/ethnicity have a great impact on cancPalabras claves:Autores:Alejandro Cabrera-Andrade, Ana Karina Zambrano, Andrés López-Cortés, Cesar Paz-y-Miño, D. A. González, INDACOCHEA A., Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier GuerreroFuentes:googlescopusAncestral analysis of a Native American Ecuadorian family with congenital insensitivity to pain with anhidrosis
ArticleAbstract: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disPalabras claves:Congenital insensitivity to pain with anhidrosis, ecuadorian, FAAH, Native American, NTRK1Autores:Albuja Echeverría B., Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAncestry study in Ecuadorian population with multiple myeloma
ArticleAbstract: Multiple myeloma (MM) is a type of hematologic cancer that mainly affects the afro-descendant populaPalabras claves:Ancestry, ECUADOR, Multiple myelomaAutores:Alejandro Cabrera-Andrade, Ana Karina Zambrano, Andrés López-Cortés, Cesar Paz-y-Miño, D. A. González, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. LeoneFuentes:googlescopusA deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: A case report
ArticleAbstract: Background: Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with aPalabras claves:High-grade gliomas, Li-Fraumeni syndrome, Pediatric anaplastic astrocytoma, TP53Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Jorge P. Torres-Yaguana, P. Guevara-Ramírez, Paola E. Leone, Runruil G., Santiago Xavier Guerrero, Verónica YumicebaFuentes: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: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:scopusGenetic characterization of an X-STR decaplex on the population of Pichincha (Ecuador)
ArticleAbstract: This study reports data of ten X-STR markers (DXS8378; GATA172D05; DXS6809; DXS7132, GATA31E08, DXS9Palabras claves:GEP-ISFG, PICHINCHA, X-STRAutores:Aguirre V., Ana Karina Zambrano, Anibal Gaviria, Builes J.J., Germán Burgos, Margarita Vela, Morejon G.Fuentes: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:scopus