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Article(6)
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American Journal of Medical Genetics, Part A(1)
Frontiers in Psychiatry(1)
Human Genome Variation(1)
International Journal of Pediatric Otorhinolaryngology(1)
Molecular Genetics and Genomic Medicine(1)
A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
ArticleAbstract: A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a posPalabras claves:Autores:Arianne Llamos Paneque, Hosomichi K., Juan Carlos Pozo-Palacios, Liehr T., Samantha Sáenz Hinojosa, Tajima A., Vanessa RomeroFuentes:googlescopusCytogenetic variants in patients with Turner syndrome diagnosed in a third level care hospital in Ecuador
ArticleAbstract: Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complPalabras claves:Genotype, Kariotype, Phenotype, Turner syndromeAutores:Arianne Llamos Paneque, Garzón-Castro M., Lamar-Segura E., Ñacato K.L., Recalde-Báez M.A., Román-Naranjo M.E., Vásquez G.Fuentes:scopusExperiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador
ArticleAbstract: Fragile X syndrome (FXS) is the most common cause of hebkp_reditary intellectual disability and thePalabras claves:dynamic mutation diseases, FMR1, fragile X syndrome, Intellectual disabilities, repetitionsAutores:Arianne Llamos Paneque, Juan Carlos Pozo-Palacios, López-Cáceres A., Onofre E., Rivas C., Villareal J.Fuentes: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:googlescopusNovel EYA1 variants causing Branchio-oto-renal syndrome
ArticleAbstract: Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterizPalabras claves:Branchial arch anomalies, Branchiootorenal syndrome, EYA1, hearing loss, Whole exome sequencingAutores:Arianne Llamos Paneque, Arslan S., Bademci G., Behnam M., Carrera-Gonzalez A., Cengiz F.B., Demir Ulusal S., Duman D., Elcioglu N., Escarfuller S., Foster J., Greenland C.M., Guo S., Gurkan H., Klingbeil K.D., Maroofian R., Menendez I., Montufar-Armendariz S., Paredes R., Tekin M.Fuentes:scopusRubinstein–Taybi syndrome in diverse populations
ArticleAbstract: Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variaPalabras claves:ÁFRICA, Asia, facial analysis technology, Latin America, Middle East, Rubinstein–Taybi syndromeAutores:Abdul-Rahman O.A., Addissie Y.A., Arianne Llamos Paneque, Ashaat E.A., Badilla-Porras R., Badoe E., Batista L.C., Brunetti-Pierri N., Cappuccio G., Diaz-Kuan A., Dissanayake V.H.W., Dowsett L., Ekure E.N., El Ruby M.O., Fleischer N., Fung J.L.F., Gupta N., Hon-Yin Chung B., Huckstadt V., Hussen D.F., Ifeorah I.K., Jones K.L., Kitchin C.S., Kruszka P., Lee S., Lo I.F.M., Lotz-Esquivel S., Luk H.M., Malonga B., Moresco A., Moretti-Ferreira D., Muenke M., Mutesa L., Obregon M.G., Owosela B., Penon-Portmann M., Prijoles E.J., Saborio-Rocafort M., Sirisena N.D., Stevenson R.E., Tekendo-Ngongang C., Thong M.K., Uwineza A.Fuentes:scopus