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

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2013

Semaka Alicia, Kay Chris, Doty Crystal N, Collins Jennifer A, Tam Natalie, Hayden Michael R

Abstract excerpt

Intermediate alleles (27-35 CAG, IAs) for Huntington disease (HD) usually do not confer the disease phenotype but are prone to CAG repeat instability. Consequently, offspring are at-risk of inheriting an expanded allele in the HD range (≥36 CAG). IAs that expand into a new mutation have been hypothesized to be more susceptible to instability compared to IAs identified on the non-HD side of a family from the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to British Columbia

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

Share to Gene Frequency

Share to Genetic Predisposition to Disease

Share to Genetics, Population

Share to Haplotypes

Share to Huntington Disease

Share to Penetrance

Source

Identifiers

PMID: 24038799
DOI: 10.1002/ajmg.b.32193

Genes

HTT

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

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population.PMID 24038799Read ↗

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.Semantic proximity Read ↗

Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test resultsSemantic proximity Read ↗

Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).Semantic proximity Read ↗

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.Semantic proximity Read ↗

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.Semantic proximity Read ↗

Allelic Diversity, de novo CAG Expansions, and Intergenerational Instability at the HTT Locus in a clinical sample of Huntington’s Disease from IndiaSemantic proximity Read ↗

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.Semantic proximity Read ↗

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population.Semantic proximity Read ↗

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.Semantic proximity Read ↗

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia.Semantic proximity Read ↗

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern ColombiaSemantic proximity Read ↗

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.Semantic proximity Read ↗

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