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

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).

Brain & development - 1 Jun 2009

Miyata Rie, Hayashi Masaharu, Miyai Kentaro, Akashi Takumi, Kato Mitsuhiro, Kohyama Jun

Abstract excerpt

X-linked lissencephaly with abnormal genitalia (XLAG) is characterized by lissencephaly, absent corpus callosum and ambiguous genitalia. We examined hypothalamic dysfunctions in a XLAG case with a novel mutation of the ARX gene, and performed immunohistochemical evaluation of the diencephalons in autopsy brain. A 1-year-old boy showed intractable epilepsy, persistent diarrhea and disturbed temperature regulation....

Read the complete abstract on PubMed

Topics

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

Share to Autopsy
Share to Basal Ganglia
Share to Body Temperature Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Choristoma

Share to Genitalia, Male

Share to Hypothalamus

Share to Pneumonia

Share to Thalamus

Source

Identifiers

PMID: 18842366
DOI: 10.1016/j.braindev.2008.08.008

Genes

ARX

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

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).PMID 18842366Read ↗

X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findingsSemantic proximity Read ↗

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Semantic proximity Read ↗

Arcuate Nucleus of the Hypothalamus: Anatomy, Physiology, and DiseasesSemantic proximity Read ↗

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.Semantic proximity Read ↗

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.Semantic proximity Read ↗

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.Semantic proximity Read ↗

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).Semantic proximity Read ↗

Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation.Semantic proximity Read ↗

X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".Semantic proximity Read ↗

Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.Semantic proximity Read ↗

Structural hypothalamic defects.Semantic proximity Read ↗

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?Semantic proximity Read ↗

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