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

Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.

Brain & development - 1 Aug 2016

Shin Eun-Hye, Cho Eunhae, Lee Cha Gon

Abstract excerpt

Temple syndrome (TS, MIM 616222) is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. TS is a genetically complex disorder, which is associated with maternal uniparental disomy of chromosome 14 (UPD14), paternal deletions on chromosome 14, or loss of methylation at the intergenic differentially methylated region (IG-DMR). Here, we describe the case of a patient with maternal...

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 Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fathers

Share to Hand Deformities, Congenital

Share to Mothers

Share to Syndrome

Share to Uniparental Disomy

Source

Identifiers

PMID: 26867509
DOI: 10.1016/j.braindev.2016.01.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.PMID 26867509Read ↗

Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.Semantic proximity Read ↗

Paternal Uniparental Disomy of Chromosome 14 with Hypospadias.Semantic proximity Read ↗

Molecular characterization of temple syndrome families with 14q32 epimutations.Semantic proximity Read ↗

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.Semantic proximity Read ↗

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.Semantic proximity Read ↗

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.Semantic proximity Read ↗

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeSemantic proximity Read ↗

Epigenetic and genetic diagnosis of Silver-Russell syndrome.Semantic proximity Read ↗

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.Semantic proximity Read ↗

Global analysis of uniparental disomy using high density genotyping arrays.Semantic proximity Read ↗

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.Semantic proximity Read ↗

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

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