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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling twenty eight growth restricted patients (including twenty two with Silver-Russel syndrome) and their parents

ABSTRACT: We studied twenty-eight growth restricted patients (twenty-two with Silver-Russell syndrome, OMIM#180860) and their parents with the Affymetrix 250K Sty SNP microarray. All patients were molecularly undefined, and thus the aim was to look for copy number alterations that might contribute to the growth restriction. Aberrations found in parents were used to reduce the list of interesting variations to de novo variants.

INSTRUMENT(S): other

ORGANISM(S): Homo sapiens

DISEASE(S): normal

SUBMITTER: Bruce Sara

PROVIDER: E-MTAB-56 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

Bruce Sara S Hannula-Jouppi Katariina K Puoskari Mari M Fransson Ingegerd I Simola Kalle O J KO Lipsanen-Nyman Marita M Kere Juha J

Journal of medical genetics 20090914 12

<h4>Background</h4>Silver-Russell syndrome (SRS, OMIM 180860) features fetal and postnatal growth restriction and variable dysmorphisms. Genetic and epigenetic aberrations on chromosomes 7 and 11 are commonly found in SRS. However, a large fraction of SRS cases remain with unknown genetic aetiology.<h4>Methods</h4>22 patients with a diagnosis of SRS (10 with H19 hypomethylation and 12 of unknown molecular aetiology) and their parents were studied with the Affymetrix 250K Sty microarray. Several ...[more]

PMID: 19752157

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