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Items: 3

1.

Comorbidities - microcephaly, facial dysmorphia and epilepsy - increase the risk of the pathogenic CNV finding in patients with intellectual disability and autism

(Submitter supplied) CNV are known to be a frequent cause of the autism spectrum disorders (ASD) and intellectual disabilities (ID). However, the clinical heterogeneity of both disorders causes the diagnostic efficacy of CNV analysis to be modest. We conclude that comorbidities such as microcephaly, facial dysmorphia and epilepsy increase the risk of the pathogenic CNV finding in patients with ID and ASD. However, the significance of these comorbidities differs between both groups and shows dependency on whether the patients were primarily classified as ID or ASD. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array; Genome variation profiling by SNP array
Platforms:
GPL16131 GPL6801
112 Samples
Download data: CEL, CNCHP, CYCHP
Series
Accession:
GSE132453
ID:
200132453
2.

[CytoScanHD_Array] Affymetrix CytoScan HD Array

(Submitter supplied) #%create_date=2011-12-01 GMT-08:00 10:25:44 #%chip_type=CytoScanHD_Array #%genome-species=Homo sapiens #%genome-version=hg19 #%genome-version-ucsc=hg19 #%genome-version-ncbi=GRCh37 #%genome-version-create_date=2009-02-00 #%dbSNP_date=2010-09-23 #%dbSNP_version=132 #%dgv-date=2010-10-00 #%dgv-version=10 #%hapmap-date=2008-01-08 #%hapmap-version=23 #%netaffx-annotation-date=2011-12-01 #%netaffx-annotation-netaffx-build=32.1 #%netaffx-annotation-tabular-format-version=1.0 #%netaffx-annotation-docgen-method=com.affymetrix.database.docgen.DocGenDriver #%netaffx-annotation-docgen-version=cluster_friendly_submission #%create_date=2011-12-01 GMT-08:00 10:25:09 #%chip_type=CytoScanHD_Array #%genome-species=Homo sapiens #%genome-version=hg19 #%genome-version-ucsc=hg19 #%genome-version-ncbi=GRCh37 #%genome-version-create_date=2009-02-00 #%dbSNP_date=2010-09-23 #%dbSNP_version=132 #%dgv-date=2010-10-00 #%dgv-version=10 #%netaffx-annotation-date=2011-12-01 #%netaffx-annotation-netaffx-build=32.1 #%netaffx-annotation-tabular-format-version=1.0 #%netaffx-annotation-docgen-method=com.affymetrix.database.docgen.DocGenDriver #%netaffx-annotation-docgen-version=cluster_friendly_submission ##This database/product contains information from the Online Mendelian Inheritance in Man(R) (OMIM(R)) database, which has been obtained under a license from the Johns Hopkins University. more...
Organism:
Homo sapiens
164 Series
6921 Samples
Download data
Platform
Accession:
GPL16131
ID:
100016131
3.

D1611/14: ASD patient

Organism:
Homo sapiens
Source name:
Peripheral blood
Platform:
GPL16131
Series:
GSE132453
Download data: CEL, CYCHP
Sample
Accession:
GSM3865176
ID:
303865176
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db=gds|term=GSM3865176[Accession]|query=1|qty=2|blobid=MCID_66a0742156cb0a044e719f0f|ismultiple=true|min_list=5|max_list=20|def_tree=20|def_list=|def_view=|url=/Taxonomy/backend/subset.cgi?|trace_url=/stat?
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