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

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

European journal of human genetics : EJHG - 1 Dec 2012

Shoubridge Cheryl, Gardner Alison, Schwartz Charles E, Hackett Anna, Field Michael, Gecz Jozef

Abstract excerpt

Intellectual disability is common. Aristaless-related homeobox (ARX) gene is one of the most frequently mutated and pleiotropic genes, implicated in 10 different phenotypes. More than half of ~100 reported cases with ARX mutations are due to a recurrent duplication of 24 bp, c.429_452dup, which l...

Read the complete abstract on PubMed

Topics

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

Share to Alanine
Share to Heterozygote
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inheritance Patterns

Share to Meiosis

Share to Oocytes

Share to Repetitive Sequences, Nucleic Acid

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 22490986
DOI: 10.1038/ejhg.2012.61
PMCID: PMC3499743

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22490986-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?PMID 22490986Read ↗

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.Semantic proximity Read ↗

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.Semantic proximity Read ↗

Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.Semantic proximity Read ↗

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.Semantic proximity Read ↗

A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.Semantic proximity Read ↗

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.Semantic proximity Read ↗

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.Semantic proximity Read ↗

The phenotypic spectrum of ARX mutations.Semantic proximity Read ↗

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