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

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

Clinical epigenetics - 7 May 2024

Baena Neus, Monk David, Aguilera Cinthia, Fraga Mario F, Fernández Agustín F, Gabau Elisabeth, Corripio Raquel, Capdevila Nuria, Trujillo Juan Pablo, Ruiz Anna, Guitart Miriam

Abstract excerpt

BACKGROUND: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q32 imprinted domain. Classical TS14 phenotypic features include pre- and postnatal short stature, small hands and feet, muscular hypotonia, motor delay, feeding...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 14

Share to Comparative Genomic Hybridization

Share to Facies

Share to Genomic Imprinting

Share to Intercellular Signaling Peptides and Proteins

Share to Muscle Hypotonia

Source

Open in PubMed Open full text

Identifiers

PMID: 38715103
DOI: 10.1186/s13148-024-01652-8
PMCID: PMC11077747

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

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.PMID 38715103Read ↗

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

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeSemantic proximity Read ↗

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.Semantic proximity Read ↗

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

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.Semantic proximity Read ↗

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published casesSemantic proximity Read ↗

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

Molecular and clinical studies in 8 patients with Temple syndrome.Semantic proximity Read ↗

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.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 characterization of temple syndrome families with 14q32 epimutations.Semantic proximity Read ↗

Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.Semantic proximity Read ↗

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