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Article

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.

American journal of medical genetics. Part A - 1 Apr 2013

Nolin Sarah L, Sah Sachin, Glicksman Anne, Sherman Stephanie L, Allen Emily, Berry-Kravis Elizabeth, Tassone Flora, Yrigollen Carolyn, Cronister Amy, Jodah Marcia, Ersalesi Nicole, Dobkin Carl, Brown W Ted, Shroff Raghav, Latham Gary J, Hadd Andrew G

Abstract excerpt

We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45-69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions...

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Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23444167
DOI: 10.1002/ajmg.a.35833
PMCID: PMC4396070

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→

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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.PMID 23444167Read ↗

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Semantic proximity Read ↗

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

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

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

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.Semantic proximity Read ↗

Length of uninterrupted CGG repeats determines instability in the FMR1 gene.Semantic proximity Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

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

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.Semantic proximity Read ↗

Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes.Semantic proximity Read ↗

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