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 new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.

Human mutation - 1 Aug 2001

Santos C B, Costa Lima M A, Pimentel M M

Abstract excerpt

FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. The FRAXE mutation is an expansion of a CCG repeat that results in methylation of a nearby CpG island. FRAXE alleles could be divided into four categories: normal (6-30 CCG repeats), intermediate (31-60 CCG repeats), premutation (61-200 CCG repeats), and full...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to CpG Islands
Share to Fragile X Syndrome

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

Share to Intellectual Disability

Share to Mosaicism

Share to Sensitivity and Specificity

Share to Trans-Activators

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 11462240
DOI: 10.1002/humu.1165

Genes

FMR1

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

A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.PMID 11462240Read ↗

Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.Semantic proximity Read ↗

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.Semantic proximity Read ↗

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.Semantic proximity Read ↗

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.Semantic proximity Read ↗

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular analysis of three families with FRAXE.Semantic proximity Read ↗

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.Semantic proximity Read ↗

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 ↗

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.Semantic proximity Read ↗

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

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.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 ↗

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