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

Molecular-clinical correlations in males with an expanded FMR1 mutation.

American journal of medical genetics - 9 Aug 1996

Merenstein S A, Sobesky W E, Taylor A K, Riddle J E, Tran H X, Hagerman R J

Abstract excerpt

Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements were also performed. Patients were divided into three groups; those with full mutation and complete methylation (n = 160), those with full mutation and partial...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

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

Share to Infant

Share to Mosaicism

Share to Mutation

Share to Nerve Tissue Proteins

Share to RNA-Binding Proteins

Source

Identifiers

PMID: 8844089
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<388::AID-AJMG31>3.0.CO;2-9

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

Molecular-clinical correlations in males with an expanded FMR1 mutation.PMID 8844089Read ↗

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.Semantic proximity Read ↗

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.Semantic proximity Read ↗

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.Semantic proximity Read ↗

FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.Semantic proximity Read ↗

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Semantic proximity Read ↗

Size and methylation mosaicism in males with Fragile X syndrome.Semantic proximity Read ↗

Normal phenotype in two brothers with a full FMR1 mutation.Semantic proximity Read ↗

Contribution of the FMR1 gene mutation to human intellectual dysfunction.Semantic proximity Read ↗

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.Semantic proximity Read ↗

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.Semantic proximity Read ↗

Clinical aspects of the fragile X syndrome.Semantic proximity Read ↗

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.Semantic proximity Read ↗

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