Examination of factors associated with instability of the FMR1 CGG repeat.

doi:10.1086/302018

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Article

Examination of factors associated with instability of the FMR1 CGG repeat.

American journal of human genetics - 1 Sept 1998

Ashley-Koch A E, Robinson H, Glicksman A E, Nolin S L, Schwartz C E, Brown W T, Turner G, Sherman S L

Abstract excerpt

We examined premutation-female transmissions and premutation-male transmissions of the FMR1 CGG repeat to carrier offspring, to identify factors associated with instability of the repeat. First we investigated associations between parental and offspring repeat size. Premutation-female repeat size...

Topics

Adult
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Carrier Screening
Genomic Imprinting
Humans
Male
Maternal Age
Mutation
Nerve Tissue Proteins
Prenatal Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA-Binding Proteins

Retrospective Studies

Risk Assessment

Sex Characteristics

Trinucleotide Repeats

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 9718348
DOI: 10.1086/302018
PMCID: PMC1377406

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9718348-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Examination of factors associated with instability of the FMR1 CGG repeat.PMID 9718348Read ↗

Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.Semantic proximity Read ↗

Familial transmission of the FMR1 CGG repeat.Semantic proximity Read ↗

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

Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation.Semantic proximity Read ↗

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

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

FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.Semantic proximity Read ↗

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Semantic proximity Read ↗

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

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

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

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