Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

8 Sept 2006

Abstract excerpt

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterised by severe intrauterine and postnatal growth retardation, limb and body asymmetry, a typical facial appearance and less common dysmorphisms. Recently, epimutations and maternal duplications affecting the short arm of chromosome 11 have been shown to have a crucial role in the aetiology of the disease. Disturbances in the same genomic region...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16963484
DOI: 10.1136/jmg.2006.044370

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndromePMID 16963484Read ↗

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

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.Semantic proximity Read ↗

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.Semantic proximity Read ↗

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

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

Beckwith–Wiedemann and Russell–Silver SyndromesSemantic proximity Read ↗

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

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndromeSemantic proximity Read ↗

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.Semantic proximity Read ↗

Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome - a Chinese experience.Semantic proximity Read ↗

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.Semantic proximity Read ↗

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.