ArticleJournal of medical genetics2007
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 156 citations in OpenAlex.
- Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.Orphanet journal of rare diseases · 2026Article
- Article
- Article
- High Maternal Serum Estradiol in First Trimester of Multiple Pregnancy Contributes to Small for Gestational Age via DNMT1-Mediated CDKN1C Upregulation.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.Disease models & mechanisms · 2020Review
- miR-126 regulates glycogen trophoblast proliferation and DNA methylation in the murine placenta.Developmental biology · 2019Article
- Analysis ofF1000Research · 2019Review
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Human molecular genetics · 2016Article
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.Molecular syndromology · 2016Review
- Dnmt3a Regulates Proliferation of Muscle Satellite Cells via p57Kip2.PLoS genetics · 2016Article
- Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.PLoS genetics · 2016Article
- Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Clinical epigenetics · 2016Article
- Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.Molecular syndromology · 2015Article
- Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.Journal of human genetics · 2015Article
- Placental 5-methylcytosine and 5-hydroxymethylcytosine patterns associate with size at birth.Epigenetics · 2015Article
- Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Journal of molecular medicine (Berlin, Germany) · 2014Article
- No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age.BMC medical genetics · 2014Article
- Looking for CDKN1C enhancers.European journal of human genetics : EJHG · 2014Article
- Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.Journal of medical genetics · 2013Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 cause the overgrowth disorder Beckwith-Wiedemann syndrome (BWS). In BWS, mutations in the telomeric as well as in the centromeric imprinting centres (ICR1 and ICR2) in 11p15 can be observed. In SRS, methylation defects in the imprinted region in 11p15 were considered to be restricted to the telomeric ICR1. They can be detected in about 30% of patients. This article reports on the first patient with SRS with a cryptic duplication restricted to the centromeric ICR2 domain in 11p15. The maternally inherited duplication in this patient included a region of 0.76-1 Mbp and affected the genes regulated by the ICR2, among them CDKN1C and LIT1. This study provides evidence for a role for this imprinting centre in the aetiology of SRS and shows that SRS presents a picture genetically opposite to that of BWS.
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