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

The ARX mutations: a frequent cause of X-linked mental retardation.

American journal of medical genetics. Part A - 1 Apr 2006

Nawara Magdalena, Szczaluba Krzysztof, Poirier Karine, Chrzanowska Krystyna, Pilch Jacek, Bal Jerzy, Chelly Jamel, Mazurczak Tadeusz

Abstract excerpt

The ARX gene mutations have been demonstrated to cause different forms of mental retardation (MR). Beside FMR1, in families with X-linked mental retardation (XLMR), the ARX dysfunction was demonstrated to be among the most frequent causes of this heterogeneous group of disorders. Nevertheless, in sporadic cases of MR, ARX mutations are extremely rare. In order to evaluate the frequency of ARX mutation in XLMR, we...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Genetic Testing

Share to Homeodomain Proteins

Share to Pedigree

Share to Transcription Factors

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 16523516
DOI: 10.1002/ajmg.a.31151

Genes

ARX
FMR1

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

The ARX mutations: a frequent cause of X-linked mental retardation.PMID 16523516Read ↗

C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.Semantic proximity Read ↗

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

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].Semantic proximity Read ↗

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.Semantic proximity Read ↗

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.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 ↗

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

[X-linked mental retardation].Semantic proximity Read ↗

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.Semantic proximity Read ↗

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

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.Semantic proximity Read ↗

X-linked mental deficiency.Semantic proximity Read ↗

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