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Items: 3

1.

Genome-wide DNA methylation analysis of the whole blood of individuals with Coffin-Siris and Nicolaides-Baraitser syndromes

(Submitter supplied) Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS (ARID1B, SMARCB1, and SMARCA4) and NCBRS (SMARCA2). We demonstrate that the degree of similarity in the epi-signatures of some CSS subtypes and NCBRS can be greater than that within CSS, indicating a link in the functional basis of the two syndromes. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platforms:
GPL21145 GPL13534
29 Samples
Download data: IDAT, TXT
Series
Accession:
GSE116992
ID:
200116992
2.

Infinium MethylationEPIC

(Submitter supplied) See manufacturer's website
Organism:
Homo sapiens
1173 Series
1 Related Platform
80236 Samples
Download data: CSV
Platform
Accession:
GPL21145
ID:
100021145
3.

MS1222_Nicolaides-Baraitser syndrome

Organism:
Homo sapiens
Source name:
MS1222
Platform:
GPL21145
Series:
GSE116992
Download data: IDAT
Sample
Accession:
GSM3267120
ID:
303267120
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db=gds|term=GSM3267120[Accession]|query=1|qty=2|blobid=MCID_6748e629462e1a751e13f17f|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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