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Article

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Dec 2007

Schönherr Nadine, Meyer Esther, Binder Gerhard, Wollmann Hartmut A, Eggermann Thomas

Abstract excerpt

Silver-Russell syndrome (SRS) is mainly characterised by intrauterine and postnatal growth retardation (IUGR and PNGR), asymmetry, clinodactyly V and craniofacial abnormalities. More than 35% of patients carry a hypomethylation of the telomeric imprinting centre region 1 (ICR1) in 11p15; single patients show a maternal duplication of 11p15. An additional 7-10% of patients with SRS have maternal uniparental disomy...

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Identifiers

PMID: 18341093
DOI: 10.1515/jpem.2007.20.12.1329

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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.

Related research

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No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.PMID 18341093Read ↗

ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.Semantic proximity Read ↗

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.Semantic proximity Read ↗

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?Semantic proximity Read ↗

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.Semantic proximity Read ↗

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndromeSemantic proximity Read ↗

Silver-Russell syndrome: genetic basis and molecular genetic testingSemantic proximity Read ↗

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

Epigenetic and genetic diagnosis of Silver-Russell syndrome.Semantic proximity Read ↗

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.Semantic proximity Read ↗

Russell-Silver syndrome.Semantic proximity Read ↗

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.Semantic proximity Read ↗

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.Semantic proximity Read ↗

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