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Article

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations.

European journal of medical genetics - 1 Jan 2000

Spengler Sabrina, Gogiel Magdalena, Schönherr Nadine, Binder Gerhard, Eggermann Thomas

Abstract excerpt

Silver-Russell syndrome (SRS) describes a uniform malformation syndrome characterized by intrauterine and postnatal growth restriction and morphological abnormalities including a small triangular face, relative macrocephaly, asymmetry of the head and limbs, and clinodactyly V. In >38% of SRS cases a hypomethylation of the H19/IGF2 DMR in 11p15 can be detected. Recently, ZFP57 mutations have been identified as a...

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Source

Identifiers

PMID: 19632365
DOI: 10.1016/j.ejmg.2009.07.005

Genes

ZFP57
IGF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations.PMID 19632365Read ↗

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.Semantic proximity Read ↗

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

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.Semantic proximity Read ↗

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

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

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).Semantic proximity Read ↗

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.Semantic proximity Read ↗

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.Semantic proximity Read ↗

Use of multiplex ligation‐dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndromeSemantic proximity Read ↗

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.Semantic proximity Read ↗

Silver-Russell syndrome.Semantic proximity Read ↗

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

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