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

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

Journal of medical genetics - 1 Oct 1995

de Vries B B, Robinson H, Stolte-Dijkstra I, Tjon Pian Gi C V, Dijkstra P F, van Doorn J, Halley D J, Oostra B A, Turner G, Niermeijer M F

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome
Share to Growth Disorders

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

Share to Insulin-Like Growth Factor Binding Protein 3

Share to Insulin-Like Growth Factor I

Share to Nerve Tissue Proteins

Share to Pedigree

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 8558551
DOI: 10.1136/jmg.32.10.764
PMCID: PMC1051696

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

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.PMID 8558551Read ↗

Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome.Semantic proximity Read ↗

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.Semantic proximity Read ↗

Expansion of an intermediate allele of the FMR1 gene in only two generations.Semantic proximity Read ↗

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.Semantic proximity Read ↗

Phenotypic involvement in females with the FMR1 gene mutation.Semantic proximity Read ↗

Apparent FMR1 allele instability in non-fragile X males.Semantic proximity Read ↗

Overgrowth syndromes.Semantic proximity Read ↗

[Fragile X syndrome: a model of gene-brain-behaviour relationships].Semantic proximity Read ↗

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.Semantic proximity Read ↗

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndromeSemantic proximity Read ↗

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.Semantic proximity Read ↗

Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective.Semantic proximity Read ↗

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