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BMC Evolutionary Biology(1)
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Frontiers in Pediatrics(1)
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Human Genome Variation(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: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:scopusGenética molecular en la clínica: una herramienta necesaria para el diagnóstico definitivo en enfermedades raras
OtherAbstract: Introducción: Una enfermedad rara se define como una enfermedad o condición que afecta a menos de 20Palabras claves:Autores:Vanessa RomeroFuentes:googleNSD1 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 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:scopusPAH Mutational Spectrum of Phenylketonuria in Ecuadorian Patients, Diverse Frequency, And Genotypes
OtherAbstract: Background: Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the PhenyPalabras claves:Autores:Vanessa RomeroFuentes:googleLa ciencia lo dice, no hay un gen gay
OtherAbstract:Palabras claves:Autores:Vanessa RomeroFuentes:googleStructure 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:googlescopusThe limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
ReviewAbstract: Background: The diagnostic process for uncommon disorders with similar manifestations is complicatedPalabras claves:ATRX syndrome, Rare Diseases, Whole exome sequencingAutores:Arias B., Hosomichi K., Samantha S. Sáenz, Vanessa RomeroFuentes:scopus