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Article

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.

Journal of medical genetics - 1 Mar 2002

Tarleton J, Kenneson A, Taylor A K, Crandall K, Fletcher R, Casey R, Hart P S, Hatton D, Fisch G, Warren S T

Abstract excerpt

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Topics

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Share to Blotting, Southern
Share to Developmental Disabilities
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Nerve Tissue Proteins

Share to Point Mutation

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Source

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Identifiers

PMID: 11897823
DOI: 10.1136/jmg.39.3.196
PMCID: PMC1735062

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.PMID 11897823Read ↗

Expansion of an intermediate allele of the FMR1 gene in only two generations.Semantic proximity Read ↗

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.Semantic proximity Read ↗

CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

Instability of a (CGG)98 repeat in the Fmr1 promoter.Semantic proximity Read ↗

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.Semantic proximity Read ↗

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

FMR1: a gene with three faces.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 ↗

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.Semantic proximity Read ↗

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 ↗

Comment: How many are too many when discussing triplet repeats in the FMR1 gene and the Fragile X syndrome?Semantic proximity Read ↗

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