Sort   by:  
 Page size 
TranscriptomicsExpression profiling in Williams-Beuren Syndrome patient fibroblast cell lines
Williams-Beuren Syndrome (WBS) is a neurodevelopmental disorder caused by aa 1.5 Mb microdeletion on human chromosome 7. Although the molecular cause of the disorder is well-established, little is known about the global impact of the deletion on gene expression. Here we profiled the transcriptomes o...
ORGANISM(S): Homo sapiens 
2011-01-31 | E-GEOD-16715 | biostudies-arrayexpress
GenomicsDown syndrome CNVs - samples
Down syndrome CNV genotyping data
EGAD00010000466 | EGA
GenomicsDown syndrome SNPs - samples
Down syndrome SNP genotyping data
EGAD00010000464 | EGA
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
UnknownCircadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.
Not available
S-EPMC9775071 | biostudies-literature
GenomicsDown syndrome Data Access Committee (DS-DAC)
Data Access Committee EGAC01000000023
EGAC01000000023 | EGA
Genomics7q11.23 dosage-dependent dysregulation in the human pluripotent state primes aberrant transcriptional programs in disease-relevant lineages (ChIP-Seq)
We apply the cellular reprogramming experimental paradigm to two disorders caused by symmetrical copy number variations (CNV) of 7q11.23 and displaying a striking combination of shared as well as symmetrically opposite phenotypes: Williams Beuren syndrome (WBS) and 7q microduplication syndrome (7dup...
ORGANISM(S): Homo sapiens 
2014-12-15 | E-GEOD-63057 | biostudies-arrayexpress
Transcriptomics7q11.23 dosage-dependent dysregulation in the human pluripotent state primes aberrant transcriptional programs in disease-relevant lineages (microarray)
We apply the cellular reprogramming experimental paradigm to two disorders caused by symmetrical copy number variations (CNV) of 7q11.23 and displaying a striking combination of shared as well as symmetrically opposite phenotypes: Williams Beuren syndrome (WBS) and 7q microduplication syndrome (7dup...
ORGANISM(S): Homo sapiens 
2014-12-15 | E-GEOD-63040 | biostudies-arrayexpress
UnknownThe association between low skeletal muscle mass and delirium: results from the nationwide multi-centre Italian Delirium Day 2017.
Not available
S-EPMC8847195 | biostudies-literature
Sort   by:  
 Page size