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Article

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.

JAMA - 16 Feb 1994

Taylor A K, Safanda J F, Fall M Z, Quince C, Lang K A, Hull C E, Carpenter I, Staley L W, Hagerman R J

Abstract excerpt

OBJECTIVE: Fragile X syndrome is caused by a mutation involving expansion of a CGG trinucleotide repeat segment in the fragile X mental retardation-1 (FMR1) gene on the long arm of the X chromosome. This study was undertaken to determine the relative impact of three molecular characteristics of the FMR1 mutation--number of CGG repeats, methylation status, and X inactivation ratio--on the cognitive involvement of...

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Source

Identifiers

PMID: 8301764

Genes

FMR1

Provenance

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Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.PMID 8301764Read ↗

Molecular-clinical correlations in males with an expanded FMR1 mutation.Semantic proximity Read ↗

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Clinical aspects of the fragile X syndrome.Semantic proximity Read ↗

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.Semantic proximity Read ↗

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.Semantic proximity Read ↗

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.Semantic proximity Read ↗

Size and methylation mosaicism in males with Fragile X syndrome.Semantic proximity Read ↗

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.Semantic proximity Read ↗

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.Semantic proximity Read ↗

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Semantic proximity Read ↗

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.Semantic proximity Read ↗

The emerging fragile X premutation phenotype: evidence from the domain of social cognition.Semantic proximity Read ↗

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