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

Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine

15 Nov 2012

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a loss-of-imprinting pediatric overgrowth syndrome. The primary features of BWS include macrosomia, macroglossia, and abdominal wall defects. Secondary features that are frequently observed in BWS patients are hypoglycemia, nevus flammeus, polyhydramnios, visceromegaly, hemihyperplasia, cardiac malformations, and difficulty breathing. BWS is speculated to occur...

Read the complete abstract on PubMed

Topics

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

Share to Assisted Reproductive Technology and Twin Pregnancy
Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23153226
DOI: 10.1186/1423-0127-19-95

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovinePMID 23153226Read ↗

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Semantic proximity Read ↗

Large offspring syndromeSemantic proximity Read ↗

Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configurationSemantic proximity Read ↗

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusSemantic proximity Read ↗

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.Semantic proximity Read ↗

A novel large deletion of the ICR1 region including H19 and putative enhancer elements.Semantic proximity Read ↗

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Global misregulation of genes largely uncoupled to DNA methylome epimutations characterizes a congenital overgrowth syndrome.Semantic proximity Read ↗

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