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Article

Molecular heterogeneity of the fragile X syndrome.

Nucleic acids research - 25 Aug 1991

Nakahori Y, Knight S J, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint T J, Froster-Iskenius U, Bentley D

Abstract excerpt

The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment containing a CGG trinucleotide repeat element at or close to the fragile site. Phenotypically normal carriers of the disorder generally have a smaller length variation...

Topics

Base Sequence
Blotting, Southern
Chromosome Mapping
Cloning, Molecular
Cosmids
Female
Fragile X Syndrome
Gene Amplification
Genetic Variation
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Repetitive Sequences, Nucleic Acid

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 1886762
DOI: 10.1093/nar/19.16.4355
PMCID: PMC328620

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1886762-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Molecular heterogeneity of the fragile X syndrome.PMID 1886762Read ↗

Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Semantic proximity Read ↗

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.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 ↗

Fragile-X syndrome: unique genetics of the heritable unstable element.Semantic proximity Read ↗

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.Semantic proximity Read ↗

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.Semantic proximity Read ↗

Fragile X genotype characterized by an unstable region of DNA.Semantic proximity Read ↗

Molecular studies of the fragile X syndrome.Semantic proximity Read ↗

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.Semantic proximity Read ↗

Analysis of CGG variation through 642 meioses in Fragile X families.Semantic proximity Read ↗

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.Semantic proximity Read ↗

Methylation and mutation patterns in the fragile X syndrome.Semantic proximity Read ↗

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