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Article

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

American journal of medical genetics - 15 Jul 1994

Chiurazzi P, de Graaff E, Ng J, Verkerk A J, Wolfson S, Fisch G S, Kozak L, Neri G, Oostra B A

Abstract excerpt

Most fragile X patients have a significant increase in the number of CGG repeats in the FMR1 gene. Two patients were described with a deletion and one patient with a point mutation in the FMR1 gene. We describe 5 patients with a fragile X or Martin-Bell phenotype. Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the...

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Identifiers

PMID: 7942992
DOI: 10.1002/ajmg.1320510405

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

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.PMID 7942992Read ↗

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.Semantic proximity Read ↗

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

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.Semantic proximity Read ↗

Fragile X syndrome and deletions in FMR1: new case and review of the literature.Semantic proximity Read ↗

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.Semantic proximity Read ↗

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Semantic proximity Read ↗

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.Semantic proximity Read ↗

Rare variants in the promoter of the fragile X syndrome gene (FMR1).Semantic proximity Read ↗

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.Semantic proximity Read ↗

A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.Semantic proximity Read ↗

A fragile gene.Semantic proximity Read ↗

Expression of the FMR1 gene.Semantic proximity Read ↗

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