Concepedia

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

Abdelkrim Saadi, Guntram Borck, Nathalie Boddaert, Mohamed Chahine Chekkour, Belaïd Imessaoudene, Arnold Münnich, Laurence Colleaux, Malika Chaouch

European Journal of Medical Genetics · 2009 · 28 citations · 23 references

DOI

Concepts

References

23

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

Eric S. Lander, David Botstein · Science · 1987 · 886 citations

, , +17

ASPM is a major determinant of cerebral cortical size

Jacquelyn Bond, Emma Roberts, Ganeshwaran H. Mochida et al. · Nature Genetics · 2002 · 569 citations

, , +9

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Jacquelyn Bond, Emma Roberts, Kelly Springell et al. · Nature Genetics · 2005 · 567 citations

, , +6

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Andrew P. Jackson, Helen Eastwood, Sandra Bell et al. · The American Journal of Human Genetics · 2002 · 474 citations · Full text

, , +7

Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

Jennifer L. Fish, Yoichi Kosodo, Wolfgang Enard et al. · Proceedings of the National Academy of Sciences · 2006 · 417 citations · Full text

, , +17