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Article

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients.

European journal of medical genetics - 1 Jan 2000

Schöherr Nadine, Jäger Susanne, Ranke Michael B, Wollmann Hartmut A, Binder Gerhard, Eggermann Thomas

Abstract excerpt

Imprinting defects have meanwhile been described in nearly all human imprinting disorders among them Silver-Russell syndrome (SRS). In this disorder, 11p15 epimutations and maternal Uniparental Disomy of chromosome 7 (UPD7) are detectable in approximately 50% of patients. To find out whether isolated imprinting defects on chromosome 7 play a role in the aetiology of SRS we screened a cohort of 54 SRS patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18585117
DOI: 10.1016/j.ejmg.2008.05.001

Genes

MEST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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