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

What's new in neurogenetics? Focus on "primary microcephaly".

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2003

Suri Mohnish

Abstract excerpt

Primary microcephaly is a specific form of microcephaly that is inherited in an autosomal recessive manner. Six loci have been mapped for this condition and the genes at two of these loci have recently been identified. These include the Microcephalin gene at the MCPH1 locus and the ASPM gene at the MCPH5 locus.

Read the complete abstract on PubMed

Topics

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

Share to Microcephaly
Share to Nerve Tissue Proteins
Share to Quantitative Trait Loci

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Cycle Proteins

Share to Cephalometry

Share to Chromosome Aberrations

Share to Cytoskeletal Proteins

Share to Genes, Recessive

Source

Identifiers

PMID: 14623216
DOI: 10.1016/j.ejpn.2003.09.002

Genes

ASPM
MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

What's new in neurogenetics? Focus on "primary microcephaly".PMID 14623216Read ↗

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.Semantic proximity Read ↗

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)Semantic proximity Read ↗

Autosomal Recessive Primary Microcephaly (MCPH): An UpdateSemantic proximity Read ↗

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.Semantic proximity Read ↗

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.Semantic proximity Read ↗

The molecular landscape of ASPM mutations in primary microcephaly.Semantic proximity Read ↗

Molecular genetics of human primary microcephaly: an overview.Semantic proximity Read ↗

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.Semantic proximity Read ↗

ASPM mutations identified in patients with primary microcephaly and seizuresSemantic proximity Read ↗

Primary microcephaly: new approaches for an old disorder.Semantic proximity Read ↗

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.Semantic proximity Read ↗

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.Semantic proximity Read ↗

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