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Article

Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort.

NeuroImage - 15 Aug 2007

Dobson-Stone C, Gatt J M, Kuan S A, Grieve S M, Gordon E, Williams L M, Schofield P R

Abstract excerpt

Loss-of-function mutations in MCPH1 and ASPM are responsible for some cases of autosomal recessive primary microcephaly. Recent studies have indicated that certain common variants of these genes have been positively selected for during the evolution of modern humans. It is therefore possible that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17566767
DOI: 10.1016/j.neuroimage.2007.05.011

Genes

ASPM
MCPH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17566767-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort.PMID 17566767Read ↗

Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM.Semantic proximity Read ↗

Normal variants of Microcephalin and ASPM do not account for brain size variability.Semantic proximity Read ↗

A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.Semantic proximity Read ↗

Sex-dependent association of common variants of microcephaly genes with brain structure.Semantic proximity Read ↗

Protein-truncating mutations in ASPM cause variable reduction in brain size.Semantic proximity Read ↗

Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.Semantic proximity Read ↗

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

Adaptive evolution of four microcephaly genes and the evolution of brain size in anthropoid primates.Semantic proximity Read ↗

Microcephaly genes and the evolution of sexual dimorphism in primate brain size.Semantic proximity Read ↗

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.Semantic proximity Read ↗

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

Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens.Semantic proximity Read ↗

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