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Items: 3

1.

Screening for chromosomal aberrations by array CGH in 74 patients with congenital hypothyroidism

(Submitter supplied) Congenital Hypothyroidism occurs in 1:3500 live births and is therefore the most common congenital endocrine disorder. A spectrum of defective thyroid morphology, termed thyroid dysgenesis, represents 80% of permanent CH cases. Although several candidate genes have been implicated in thyroid development, comprehensive screens failed to detect mutation carriers in a significant number of patients with non-syndromic TD. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL5114
80 Samples
Download data: GPR
Series
Accession:
GSE18152
ID:
200018152
2.

MPIMG Homo sapiens 36k_arrayCGH8

(Submitter supplied) The submegabase resolution whole genome tiling path BAC array consists of the human 32k BAC Re-Array Set* (BACPAC Resources Center, DNA kindly provided by Nigel Carter, Wellcome Trust Sanger Centre) and a set if subtelomeric clones (assembled by members of the COSTB19 Action: Molecular cytogenetics of solid tumours). Protocols for the isolation of DNA (1 Mb Sanger set and subtelomeric set) and the amplification of insert DNA by linker adapter PCR are described in detail at the Molecular Cytogenetics website of MPG. more...
Organism:
Homo sapiens
13 Series
179 Samples
Download data
Platform
Accession:
GPL5114
ID:
100005114
3.

Healthy Patient 5011, father of CH Patient 4626

Organism:
Homo sapiens
Source name:
dna isolated from blood of a healthy patient. gender: male (channel 1) DNA isolated from the blood of a donorpool of 5 healthy males (channel 2)
Platform:
GPL5114
Series:
GSE18152
Download data: GPR
Sample
Accession:
GSM453726
ID:
300453726
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db=gds|term=GSM453726[Accession]|query=1|qty=2|blobid=MCID_6794689c3ebf2117042e47ea|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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