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

Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.

Journal of genetic counseling - 1 Feb 2014

Cruz-Mariño Tania, Laffita-Mesa Jose Miguel, Gonzalez-Zaldivar Yanetza, Velazquez-Santos Miguel, Aguilera-Rodriguez Raul, Estupinan-Rodriguez Annelie, Vazquez-Mojena Yaime, Macleod Patrick, Paneque Milena, Velazquez-Perez Luis

Abstract excerpt

In 2001 a program for predictive testing of Spinocerebellar Ataxia type 2 was developed in Cuba, based on the detection of an abnormal CAG trinucleotide repeat expansion in the ATXN2 gene. A descriptive study was designed to assess the implications of ATXN2 large normal and intermediate alleles in the context of the SCA2 Prenatal Diagnosis Program. Four clinical scenarios were selected based upon the behaviour of...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Ataxins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATXN2 gene

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 23813298
DOI: 10.1007/s10897-013-9615-1

Genes

ATXN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.PMID 23813298Read ↗

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.Semantic proximity Read ↗

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion.Semantic proximity Read ↗

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.Semantic proximity Read ↗

SCA 17 phenotype with intermediate triplet repeat number.Semantic proximity Read ↗

Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population.Semantic proximity Read ↗

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.Semantic proximity Read ↗

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).Semantic proximity Read ↗

The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.Semantic proximity Read ↗

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

The Two Faces of Pediatric SCA2.Semantic proximity Read ↗

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.Semantic proximity Read ↗

Intermediate repeat alleles at polyglutamine repeat loci in the Indian populationSemantic proximity Read ↗

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