Compound heterozygous ASPM mutations in Pakistani MCPH families-Reference-Cited by-同舟云学术

Compound heterozygous ASPM mutations in Pakistani MCPH families

Published:2009-04-07 Issue:5 Volume:149A Page:926-930
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Muhammad Farooq,Mahmood Baig Shahid,Hansen Lars,Sajid Hussain Muhammad,Anjum Inayat Iram,Aslam Muhammad,Anver Qureshi Javed,Toilat Muhammad,Kirst Elisabeth,Wajid Muhammad,Nürnberg Peter,Eiberg Hans,Tommerup Niels,Kjaer Klaus W.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32749/fullpdf

Reference9 articles.

1. ASPM is a major determinant of cerebral cortical size;Bond;Nat Genet,2002

2. Protein-truncating mutations in ASPM cause variable reduction in brain size;Bond;Am J Hum Genet,2003

3. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally;Desir;Am J Med Genet Part A,2008

4. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene;Gul;Neurogenetics,2006

5. Genetic analysis of primary microcephaly in Indian families: Novel ASPM mutations;Kumar;Clin Genet,2004

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