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Items: 3

1.

Mapping of the HUWE1 duplication at Xp11.22 in eight unrelated XLID patients

(Submitter supplied) In a study to elucidate the genetic defects in patients with X-linked intellectual disability (XLID) we performed X chromosome-specific BAC-array-CGH and identified 0.33 to 1.0 Mb nonrecurrent copy number gains at Xp11.22 in affected males of unrelated XLID families. All aberrations segregate with the disease in the families and the carrier mothers show a nonrandom X-inactivation. Affected males suffered from mild to moderate ID. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL14729
8 Samples
Download data: TXT
Series
Accession:
GSE32945
ID:
200032945

PubMed Full text in PMC Similar studies Analyze with GEO2R

2.

Ag-VIBxp1122v2-4X44

(Submitter supplied) see manufacturer's web site at http://www.agilent.com/
Organism:
Homo sapiens
1 Series
8 Samples
Download data: TXT
Platform
Accession:
GPL14729
ID:
100014729

3.

5798

Organism:
Homo sapiens
Source name:
FTD-XY (channel 1) Co1-XY (channel 2)
Platform:
GPL14729
Series:
GSE32945
Download data: TXT
Sample
Accession:
GSM815877
ID:
300815877

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db=gds|term=GSM815877[Accession]|query=1|qty=2|blobid=MCID_67596569df415c74f8b9a8c9|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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