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

A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.

Human mutation - 1 Jun 2003

Moore Mathew W, Dietz Lisa G, Tirtorahardjo Budi, Cotter Philip D

Abstract excerpt

Uniparental disomy of chromosome 7 (UPD7) is associated with abnormal phenotypic effects because of inappropriate expression of imprinted genes on chromosome 7. Based on the differential methylation of the promoter region of the imprinted PEG1/MEST locus at 7q32, we designed a multiplex methylation PCR (mPCR) assay to rapidly distinguish UPD7 from biparental inheritance of chromosome 7. Primers were designed to...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 7
Share to DNA Methylation
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genomic Imprinting

Share to Promoter Regions, Genetic

Share to Proteins

Share to Uniparental Disomy

Source

Identifiers

PMID: 12754712
DOI: 10.1002/humu.10222

Genes

MEST

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

A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.PMID 12754712Read ↗

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Semantic proximity Read ↗

Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping.Semantic proximity Read ↗

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

New Developments in Silver–Russell Syndrome and Implications for Clinical PracticeSemantic proximity Read ↗

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome.Semantic proximity Read ↗

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.Semantic proximity Read ↗

Methylation profiling in individuals with Russell–Silver syndromeSemantic proximity Read ↗

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.Semantic proximity Read ↗

Epigenetic signatures of Silver–Russell syndrome: Table 1Semantic proximity Read ↗

The genetic aetiology of Silver-Russell syndrome.Semantic proximity Read ↗

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.Semantic proximity Read ↗

A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.Semantic proximity Read ↗

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