Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.

American journal of medical genetics - 17 Jul 2000

Larsen L A, Armstrong J S, Grønskov K, Hjalgrim H, Macpherson J N, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J

Abstract excerpt

The AGG interspersion pattern and flanking microsatellite markers and their association with instability of the FMR1 (CGG)(n) repeat, involved in the fragile X syndrome, were analyzed in DNA from filter-paper blood spots randomly collected from the Danish newborn population. Comparison of DXS548-FRAXAC1 haplotype frequencies in the normal population and among fragile X patients suggested strong linkage...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Denmark
Share to Fragile X Mental Retardation Protein

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

Share to Fragile X Syndrome

Share to Infant, Newborn

Share to Microsatellite Repeats

Share to Nerve Tissue Proteins

Share to RNA-Binding Proteins

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 10869110
DOI: 10.1002/1096-8628(20000717)93:2<99::aid-ajmg4>3.0.co;2-w

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→

Click a neighbor to travelStep 1 · 12 closest

Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.PMID 10869110Read ↗

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.Semantic proximity Read ↗

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

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.Semantic proximity Read ↗

[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome].Semantic proximity Read ↗

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

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

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

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.Semantic proximity Read ↗

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Semantic proximity Read ↗

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

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

FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.