Sort   by:  
 Page size 
TranscriptomicsModelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 [RNA-seq]
Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21...
ORGANISM(S): Homo sapiens 
2013-12-01 | E-GEOD-52249 | biostudies-arrayexpress
GenomicsDomains of genomewide gene expression dysregulation in Down syndrome [Dnase HS mapping]
Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we sh...
ORGANISM(S): Homo sapiens 
2014-04-08 | E-GEOD-55425 | biostudies-arrayexpress
GenomicsThe complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in...
EGAS00000000129 | EGA
GenomicsDomains of genomewide gene expression dysregulation in Down syndrome [RRBS]
Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we sh...
ORGANISM(S): Homo sapiens 
2014-04-08 | E-GEOD-55505 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of mouse functionally distinct radial glial subsets
Since the discovery of radial glia as the source of neurons, their heterogeneity in regard to neurogenesis has been described by clonal and time-lapse analysis in vitro. However, the molecular determinants specifying neurogenic radial glia differently from radial glia that mostly self-renew remain i...
ORGANISM(S): Mus musculus 
2008-06-18 | E-GEOD-8034 | biostudies-arrayexpress
GenomicsDown syndrome SNPs - samples
Down syndrome SNP genotyping data
EGAD00010000464 | EGA
GenomicsDown syndrome CNVs - samples
Down syndrome CNV genotyping data
EGAD00010000466 | EGA
GenomicsDown syndrome Data Access Committee (DS-DAC)
Data Access Committee EGAC01000000023
EGAC01000000023 | EGA
UnknownGuidelines for the use of flow cytometry and cell sorting in immunological studies (second edition).
Not available
S-EPMC7350392 | biostudies-literature
UnknownGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Not available
S-EPMC4835977 | biostudies-literature
Sort   by:  
 Page size