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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:googlescopusAnalysis of CFTR gene mutations and Cystic Fibrosis incidence in the Ecuatorian population
ArticleAbstract: Ecuador is one of the Latin American countries where cystic fibrosis has not been thoroughly studiedPalabras claves:CF, CFTR, cystic fibrosis, Ecuadorian incidence, F508del, G85EAutores:Béjar D.E., Burgos R.I., Juan Carlos Ruiz-Cabezas, Valle E.P., Valle J.R.Fuentes:scopusA pilot study on the identification of human papillomavirus genotypes in tongue cancer samples from a single institution in Ecuador
ArticleAbstract: The relationship between human papillomavirus (HPV) and oropharyngeal squamous cell carcinoma has bePalabras claves:ECUADOR, epidemiology, head and neck cancer, human papillomavirus, ORAL, OropharyngealAutores:Cotter T.G., Glenda M. Delgado Ramos, Juan Carlos Ruiz-Cabezas, L. Flor Ramos, Martinez G.A.R., Torres Floril V.Fuentes:scopusGenotypes distribution of human papillomavirus in cervical samples of Ecuadorian women
ArticleAbstract: Introduction: Human papillomavirus (HPV) is considered a necessary causative agent for developing orPalabras claves:ECUADOR, human papillomavirus, Polymerase Chain Reaction, Uterine cervical neoplasmsAutores:Almeida Carpio F., Burgos Galarraga R.I., García Muentes G.D., García Rodríguez L.K., Juan Carlos Ruiz-Cabezas, Lindsay GARCIAFuentes:googlescopusMulti-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ArticleAbstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnosePalabras claves:chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testingAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., P. Guevara-Ramírez, Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopusMutational analysis of CFTR in the Ecuadorian population using next-generation sequencing
ArticleAbstract: The frequency distributions of cystic fibrosis variants are heterogeneous in Ecuador because of thePalabras claves:CF in Ecuador, CFTR variants, Microarrays, NGSAutores:Ana Karina Zambrano, Barros F., Burgos R.I., Castro A., Cesar Paz-y-Miño, Farhat C., Gustavo García, Juan Carlos Ruiz-Cabezas, Martha Montalván, Martínez M., Muñoz L., Sobrino B.Fuentes:scopusHPV Involvement in Head and Neck Cancers: Comprehensive Assessment of Biomarkers in 3680 Patients
ArticleAbstract: Background: We conducted a large international study to estimate fractions of head and neck cancersPalabras claves:Autores:Ajayi O.F., Albanesi E.I., Alejo M., Alemany L., Alòs L., Alvarado-Cabrero I., Benevolo M., Biegner T., Bravo I.G., Cadena E., Castellsagué X., Claros E., Clavero O., Costes V., Dabed P., Duarte F., Duran-Padilla M.A., Félix A., Ferrera A., Garcia-Rojo M., Germar M.J.V., González M.E., Goodman M.T., Guimerà N., Halec G., Hall G., Holzinger D., Iljazovic E., Jain A., Juan Carlos Ruiz-Cabezas, Kang C.S., Kasamatsu E.S., Laco J., León X., Leopoldo Tinoco, Lloveras B., Lombardi L.E., López-Revilla R., Malami S., Mandys V., Mehanna H., Mehrotra R., Mena M., Molina C., Morales H., Muñoz N., Ndiaye C., Nessa A., Oh J.K., Pawlita M., Pirog E.C., Poljak M., Quer M., Quint W.G.V., Quirós B., Ruacan A., Sanjosé S.D., Szafarowski T., Tous S., Velasco J., Viarheichyk H., Xavier Bosch F.Fuentes:scopusStructural and molecular pathology of the heart in Carvajal syndrome
ArticleAbstract: Background: Carvajal syndrome is a familial cardiocutaneous syndrome consisting of woolly hair, palmPalabras claves:cardiomyopathy, Carvajal syndrome, Connexin43, Desmin, Desmoplakin, PlakoglobinAutores:Carvajal-Huerta L., Gard J.J., Juan Carlos Ruiz-Cabezas, Kaplan S.R., Saffitz J.E., Thiene G.Fuentes:scopus