Transcriptomics

Dataset Information

6

Genomewide methylation analysis in Silver Russell syndrome patients


ABSTRACT: Genomewide methylation analysis in Silver Russell syndrome patients compared to healthy controls Bisulphite converted DNA from the 24 samples were hybridised to the Illumina Infinium 450k Human Methylation Beadchip

ORGANISM(S): Homo sapiens  

SUBMITTER: Rebecca J Oakey   Jennifer M Frost  Miho Ishida  William Puszyk  Gudrun E Moore  Adam R Prickett  Sayeda Abu-Amero  Sabrina V Böhm  Reiner Schulz  Phillip Stanier 

PROVIDER: E-GEOD-55491 | ArrayExpress | 2015-01-12

SECONDARY ACCESSION(S): GSE55491PRJNA239769

REPOSITORIES: GEO, ArrayExpress

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Publications

Genome-wide methylation analysis in Silver-Russell syndrome patients.

Prickett A R AR   Ishida M M   Böhm S S   Frost J M JM   Puszyk W W   Abu-Amero S S   Stanier P P   Schulz R R   Moore G E GE   Oakey R J RJ  

Human genetics 20150107 3


Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprinted genes. Approximately, half of all patients exhibit DNA hypomethylation at the H19/IGF2 imprinted domain, and around 10% have maternal uniparental disomy of chromosome 7. We meas  ...[more]

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