Autosomal recessive primary microcephalies (MCPH)

European Journal of Paediatric Neurology

Volumn 13, Issue 5, 2009, Pages 458-

  Kaindl, Angela M ^a,b   Passemard, Sandrine ^a,b   Gressens, Pierre ^a,b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY; GENE LOCATION; GENE SEQUENCE; MICROCEPHALY; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; GENES, RECESSIVE; HUMANS; MICROCEPHALY;

EID: 68349125705     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.07.010     Document Type: Article

References (10)

1. Jackson A.P., Eastwood H., Bell S.M., et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 71 (2002) 136-142
2. Jackson A.P., McHale D.P., Campbell D.A., et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63 (1998) 541-546
3. Roberts E., Jackson A.P., Carradice A.C., et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 7 (1999) 815-820
4. Moynihan L., Jackson A.P., Roberts E., et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 66 (2000) 724-727
5. Bond J., Roberts E., Springell K., et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37 (2005) 353-355
6. Jamieson C.R., Govaerts C., and Abramowicz M.J. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65 (1999) 1465-1469
7. Jamieson C.R., Fryns J.P., Jacobs J., et al. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 67 (2000) 1575-1577
8. Pattison L., Crow Y.J., Deeble V.J., et al. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67 (2000) 1578-1580
9. Bond J., Roberts E., Mochida G.H., et al. ASPM is a major determinant of cerebral cortical size. Nat Genet 32 (2002) 316-320
10. Leal G.F., Roberts E., Silva E.O., et al. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 40 (2003) 540-542