Mostrando 4 resultados de: 4
Filtros aplicados
Publisher
British Journal of Dermatology(1)
Cytogenomics(1)
International Journal of Molecular Sciences(1)
Journal of Medical Genetics(1)
3D cytogenomics: Structural variation in the three-dimensional genome
Book PartAbstract: Balanced and unbalanced structural variants (SVs) contribute to the human genome diversity but havePalabras claves:3D genome organization, Chromosome conformation capture assays, Copy number variants (CNVs), Hi-C, Single-nucleotide variants (SNVs), Structural variations (SVs), Topologically associating domains (TADs), Whole-genome sequencing (WGS)Autores:Melo U.S., Spielmann M., Verónica YumicebaFuentes:scopusDisruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
ArticleAbstract: Background Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesisPalabras claves:gene expression regulation, gene rearrangement, high-throughput nucleotide sequencing, sequence analysis, DNA, sex determination processesAutores:Busch H., Claviez A., Hiort O., Holterhus P.M., Kaiser F.J., Kruse N., Künstner A., Meinel J.A., Schultz K., Spielmann M., Verónica Yumiceba, Werner R.Fuentes:scopusTranscriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon
ArticleAbstract: X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-Palabras claves:Epigenetics, Retrotransposon, splicing, SVA, transcription, XDPAutores:Algodon S.M., Brüggemann N., Cruz J.N., Diesta C.C.E., Glatzel M., Grütz K., Händler K., Jamora R.D.G., Kaiser F.J., Kirchner H., Klein C., Kruse N., Laß J., Matschke J., Pozojevic J., Rakovic A., Rosales R.L., Schaake S., Schulz K., Seibler P., Spielmann M., Sreenivasan V.K.A., Trinh J., Tse R., Verónica Yumiceba, Westenberger A.Fuentes:scopusWhen too much is too much: Noncoding duplications in skin disorders
OtherAbstract:Palabras claves:Autores:Spielmann M., Verónica YumicebaFuentes:scopus