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GenomicsDiagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may pl...
ORGANISM(S): Homo sapiens 
2013-11-06 | E-GEUV-5 | biostudies-arrayexpress
TranscriptomicsConditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration
ATP6AP2 is an essential accessory component of the vacuolar H+ ATPase (V-ATPase) and has been associated with intellectual disabilities (ID) and Parkinsonism. ATP6AP2 has been implicated in several signaling pathways, but little is known about its role in the nervous system. To decipher its function...
ORGANISM(S): Mus musculus 
2015-09-22 | E-GEOD-67541 | biostudies-arrayexpress
UnknownCentral Blood Pressure and Augmentation Index in Older Adults With Intellectual Disabilities.
Not available
S-EPMC12576378 | biostudies-literature
TranscriptomicsNONO mutations cause syndromic intellectual disability and inhibitory synaptic defects
Identifying causes of sporadic intellectual disability remains a considerable medical challenge. Here, we demonstrate that null mutations in the NONO gene, a member of the Drosophila Behavior Human Splicing (DBHS) protein family, are a novel cause of X-linked syndromic intellectual disability. Com...
ORGANISM(S): Homo sapiens 
2015-09-02 | E-MTAB-2894 | biostudies-arrayexpress
TranscriptomicsNONO mutations cause syndromic intellectual disability and inhibitory synaptic defects
Identifying causes of sporadic intellectual disability remains a considerable medical challenge. Here, we demonstrate that null mutations in the NONO gene, a member of the Drosophila Behavior Human Splicing (DBHS) protein family, are a novel cause of X-linked syndromic intellectual disability. Com...
ORGANISM(S): Mus musculus 
2015-09-02 | E-MTAB-2895 | biostudies-arrayexpress
TranscriptomicsAggression, cognitive and neurodevelopmental abnormalities associated with disruption of the intellectual disability and histone demethylase gene Kdm5c
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Mus musculus 
2016-01-27 | E-GEOD-61036 | biostudies-arrayexpress
UnknownOff-Label Antipsychotic Withdrawal in People With Intellectual Disabilities: Development and Internal Validation of a Prediction Model.
Not available
S-EPMC12576382 | biostudies-literature
Transcriptomics10 Intellectual Disability samples for clinically relevant CNV detection
10 patients with Intellectual Disability diagnosed with a clinically relevant copy number change, selected to assess the dection performance of alternative platforms. 10 Affymetrix arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples.
ORGANISM(S): Homo sapiens 
2013-08-01 | E-GEOD-46060 | biostudies-arrayexpress
UnknownTen-Year Outcomes of Anticholinergic Use Among Older Adults With Intellectual Disability: Findings From the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA).
Not available
S-EPMC12576370 | biostudies-literature
ProteomicsThe OGT TPR Interactome defined by BioID
BioID performed in HeLa cells for the TPR domain of The O-GlcNAc Transferase and eGFP (negative control). Used to determine TPR interactors and the TPR interactome in HeLa cells. Three biological replicates were performed, with each replicate having an experimental (TPR-BirA*) and negative (eGFP-Bir...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-06-24 | MSV000085626 | MassIVE
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