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

Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.

Archives of Iranian medicine - 1 Jun 2012

Abedini Seyed Sedigheh, Kahrizi Kimia, Behjati Farkhondeh, Banihashemi Sussan, Ghasemi Firoozabadi Saghar, Najmabadi Hossein

Abstract excerpt

BACKGROUND: Mutations in the human aristaless-related homeobox (ARX) gene are amongst the major causes of developmental and neurological disorders. They are responsible for a wide spectrum of phenotypes, including nonsyndromic X-linked intellectual disability (NS-XLID), and syndromic (XLIDS) forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome (PRTS), and X-linked infantile...

Read the complete abstract on PubMed

Topics

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

Share to Genes, Homeobox
Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Homeodomain Proteins

Share to Intellectual Disability

Share to Prevalence

Share to Transcription Factors

Source

Identifiers

PMID: 22642246
DOI: 012156/AIM.009

Genes

ARX

Variants

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

Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.PMID 22642246Read ↗

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

Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.Semantic proximity Read ↗

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.Semantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.Semantic proximity Read ↗

[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].Semantic proximity Read ↗

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.Semantic proximity Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

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 ↗

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Semantic proximity Read ↗

X-linked myoclonic epilepsy with spasticity and intellectual disabilitySemantic proximity Read ↗

Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.Semantic proximity Read ↗

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