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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:googlescopusCOL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
ArticleAbstract: Background: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomalPalabras claves:COL1A1, collagen, ECUADOR, Osteogenesis imperfecta, splicingAutores:Dirani M., Vanessa Romero, Víctor CuencaFuentes:scopusNSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome
ArticleAbstract: Background: Modern human brains and skull shapes differ from other hominids. Brain growth disordersPalabras claves:Episodic, Macrocephaly, NSD1, Primates, Selection, SotosAutores:Benjamín Arias-Almeida, Stefanie A. Aguiar, Vanessa RomeroFuentes:scopusNovel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
ArticleAbstract: Background: Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systPalabras claves:campomelic dysplasia, ECUADOR, high-mobility group box (HMG), self-dimerization domain (DIM), SOX9 geneAutores:Carlos A. Calvache, Estefanía C. Vásquez, Hosomichi K., Juan C. Pozo, Vanessa RomeroFuentes:scopusNovel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report
ArticleAbstract: Multiple non-related neoplasia does not have an established approach or benefits for performing wholPalabras claves:ACSL6, astrocytoma, Breast, missense, thyroidAutores:Benjamín Arias-Almeida, Erick Freire, Hosomichi K., María Isabel Castillo, Reyes C., Vanessa RomeroFuentes:scopusNovel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report
OtherAbstract:Palabras claves:Autores:Benjamín Arias-Almeida, Diana Paredes, Diana Peñaloza, Hosomichi K., Reyes C., Vanessa RomeroFuentes:scopusHigh order formation and evolution of hornerin in primates
ArticleAbstract: Genomic duplication or loss can accelerate evolution because the number of repeats could affect molePalabras claves:Birth-and-death model, Epidermal differentiation complex, Hornerin, HRNR, Primate, S100 fused type proteinAutores:Hosomichi K., Inoue I., Nakaoka H., Vanessa RomeroFuentes:googlescopusUndiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
ArticleAbstract: Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millPalabras claves:data sharing, developing nations, Rare Diseases, Survey, Undiagnosed DiseasesAutores:Alanay Y., Azam M., Baynam G., Bodamer O., Carta C., Cederroth H., Cellai L.L., Cutiongco-de la Paz E.M., Dissanayake V.H.W., Ferrari G., Gahl W.A., Giugliani R., Gonzaga-Jauregui C., Groft S., Hettiarachchi D., Jamuar S.S., Kvlividze O., Landoure G., Lumaka A., Makay P., Melegh B., Ozbek U., Posada M., Puri R.D., Roccatello D., Salvatore M., Scaria V., Sciascia S., Shotelersuk V., Taruscio D., Vanessa Romero, Wiafe S.A.Fuentes:googlescopusRisk HLA alleles in South America and potential new epitopes for SARS-CoV2
ReviewAbstract: HLA alleles are associated with the body's response to infection and the regulation of the immune syPalabras claves:Epitopes, HLA, SARS-COV2, SOUTH AMERICAAutores:Samantha Sáenz Hinojosa, Vanessa RomeroFuentes:scopusStructure and evolution of the filaggrin gene repeated region in primates
ArticleAbstract: Background: The evolutionary dynamics of repeat sequences is quite complex, with some duplicates nevPalabras claves:Birth-and-death evolution, copy number variation, Duplication/loss, FilaggrinAutores:Hosomichi K., Inoue I., Nakaoka H., Shibata H., Vanessa RomeroFuentes:googlescopus