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

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.

The Journal of molecular diagnostics : JMD - 1 Aug 2021

Liu Timing, Wang Furene S, Cheah Felicia S H, Gu Yanghong, Shaw Marie, Law Hai-Yang, Tay Stacey K H, Lee Caroline G, Nelson David L, Gecz Jozef, Chong Samuel S

Abstract excerpt

Moderate to hyper-expansion of trinucleotide repeats at the FRAXA and FRAXE fragile sites, with or without concurrent hypermethylation, has been associated with intellectual disability and other conditions. Unlike molecular diagnosis of FMR1 CGG repeat expansions in FRAXA, current detection of AFF2 CCG repeat expansions in FRAXE relies on low-throughput and otherwise inefficient techniques combining Southern blot...

Read the complete abstract on PubMed

Topics

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

Share to Electrophoresis, Capillary
Share to Fragile X Mental Retardation Protein

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

Share to Fragile X Syndrome

Share to Genetic Testing

Share to Multiplex Polymerase Chain Reaction

Share to Nuclear Proteins

Share to Reproducibility of Results

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 34111553
DOI: 10.1016/j.jmoldx.2021.04.015

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.PMID 34111553Read ↗

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Semantic proximity Read ↗

Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.Semantic proximity Read ↗

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.Semantic proximity Read ↗

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.Semantic proximity Read ↗

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.Semantic proximity Read ↗

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Semantic proximity Read ↗

Long-read sequencing reveals extensive <i>FMR1</i> somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brainSemantic proximity Read ↗

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.Semantic proximity Read ↗

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.Semantic proximity Read ↗

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Semantic proximity Read ↗

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in<i>AFF3</i>as a significant cause of intellectual disabilitySemantic proximity Read ↗

High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes.Semantic proximity Read ↗

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