Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

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: Reiner Schulz

PROVIDER: E-GEOD-55491 | biostudies-arrayexpress |

REPOSITORIES: biostudies-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]

PMID: 25563730

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Dataset Information

Genomewide methylation analysis in Silver Russell syndrome patients

Publications

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

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