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Article

Frequency and stability of the fragile X premutation.

Human molecular genetics - 1 Mar 1994

Reiss A L, Kazazian H H, Krebs C M, McAughan A, Boehm C D, Abrams M T, Nelson D L

Abstract excerpt

Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range, there is also little information available about the origin of the fragile X premutation and mechanisms leading to...

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Source

Identifiers

PMID: 8012350
DOI: 10.1093/hmg/3.3.393

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

Frequency and stability of the fragile X premutation.PMID 8012350Read ↗

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.Semantic proximity Read ↗

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

The Fragile X premutation: new insights and clinical consequences.Semantic proximity Read ↗

Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.Semantic proximity Read ↗

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Semantic proximity Read ↗

Unstable mutations in the FMR1 gene and the phenotypes.Semantic proximity Read ↗

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Semantic proximity Read ↗

Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

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