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

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.

Hereditas - 1 Jan 2003

Wallerman Ola, Van Eeghen Agnies, Ten Kate Leo P, Wadelius Claes

Abstract excerpt

Primary microcephaly has been mapped to five loci on different chromosomes. We present here the fine mapping of one of the loci, MCPH5, to a region of only 0.58 Mb located at the 1q31.3-1q32.1 junction. A genome scan was performed on five families from the Netherlands and Jordania, with 14 patients affected by microcephaly. A maximum LOD score of 4.78 was found for marker D1S1660 at the MCPH5 locus. Haplotype...

Read the complete abstract on PubMed

Topics

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

Share to Pedigree
Share to Chromosomes, Human, Pair 1
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Lod Score

Share to Microcephaly

Share to Models, Genetic

Source

Identifiers

PMID: 14641475
DOI: 10.1111/j.1601-5223.2003.01682.x

Genes

ASPM

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

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.PMID 14641475Read ↗

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

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.Semantic proximity Read ↗

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

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

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.Semantic proximity Read ↗

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

What's new in neurogenetics? Focus on "primary microcephaly".Semantic proximity Read ↗

Genetic heterogeneity in Pakistani microcephaly families revisited.Semantic proximity Read ↗

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.Semantic proximity Read ↗

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.Semantic proximity Read ↗

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary MicrocephalySemantic proximity Read ↗

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.Semantic proximity Read ↗

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