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

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.

Human mutation - 1 Sept 2008

Buiting Karin, Kanber Deniz, Martín-Subero José I, Lieb Wolfgang, Terhal Paulien, Albrecht Beate, Purmann Sabine, Gross Stephanie, Lich Christina, Siebert Reiner, Horsthemke Bernhard, Gillessen-Kaesbach Gabriele

Abstract excerpt

Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes pre- and postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who...

Read the complete abstract on PubMed

Topics

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

Share to Calcium-Binding Proteins
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genomic Imprinting

Share to Intercellular Signaling Peptides and Proteins

Share to Mothers

Share to Multigene Family

Share to RNA, Long Noncoding

Share to Uniparental Disomy

Source

Identifiers

PMID: 18454453
DOI: 10.1002/humu.20771

Genes

DLK1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.PMID 18454453Read ↗

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.Semantic proximity Read ↗

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.Semantic proximity Read ↗

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.Semantic proximity Read ↗

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.Semantic proximity Read ↗

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.Semantic proximity Read ↗

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.Semantic proximity Read ↗

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.Semantic proximity Read ↗

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.Semantic proximity Read ↗

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.Semantic proximity Read ↗

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control CentersSemantic proximity Read ↗

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.Semantic proximity Read ↗

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Semantic proximity Read ↗

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