Identification of microcephalin, a protein implicated in determining the size of the human brain

Citation for published version: Jackson, AP, Eastwood, H, Bell, SM, Adu, J, Toomes, C, Carr, IM, Roberts, E, Hampshire, DJ, Crow, YJ, Mighell, AJ, Karbani, G, Jafri, H, Rashid, Y, Mueller, RF, Markham, AF & Woods, CG 2002, 'Identification of microcephalin, a protein implicated in determining the size of the human brain', American Journal of Human Genetics, vol. 71, no. 1, pp. 136-42. https://doi.org/10.1086/341283

[1]  H. Zoghbi,et al.  Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. , 2002, Human molecular genetics.

[2]  Christopher A. Walsh,et al.  Molecular genetics of human microcephaly , 2001, Current opinion in neurology.

[3]  C. Woods,et al.  A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. , 2000, American journal of human genetics.

[4]  J. Fryns,et al.  Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. , 2000, American journal of human genetics.

[5]  M. Sternberg,et al.  The BRCA1 C-terminal domain: structure and function. , 2000, Mutation research.

[6]  D. R. Kornack.  Neurogenesis and the Evolution of Cortical Diversity: Mode, Tempo, and Partitioning during Development and Persistence in Adulthood , 2000, Brain, Behavior and Evolution.

[7]  C. Woods,et al.  A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. , 2000, American journal of human genetics.

[8]  M. Abramowicz,et al.  Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. , 1999, American journal of human genetics.

[9]  C. Woods,et al.  The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2 , 1999, European Journal of Human Genetics.

[10]  B. Wood,et al.  The human genus. , 1999, Science.

[11]  C. Woods,et al.  Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. , 1998, American journal of human genetics.

[12]  Matthias Platzer,et al.  Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome , 1998, Cell.

[13]  R. Shiang,et al.  Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. , 1997, Human molecular genetics.

[14]  J. Rossiter,et al.  Recessive (true) microcephaly: a case report with neuropathological observations. , 1996, Journal of intellectual disability research : JIDR.

[15]  I R Gibbons,et al.  A PCR procedure to determine the sequence of large polypeptides by rapid walking through a cDNA library. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[16]  R. Angerer,et al.  Detection of mrnas in sea urchin embryos by in situ hybridization using asymmetric RNA probes. , 1984, Developmental biology.

[17]  R. Sidman,et al.  Autoradiographic Study of Cell Migration during Histogenesis of Cerebral Cortex in the Mouse , 1961, Nature.

[18]  T. Komai,et al.  Genetic study of microcephaly based on Japanese material. , 1955, American journal of human genetics.

[19]  S. Matsuura.  [Nijmegen breakage syndrome]. , 2001, Ryoikibetsu shokogun shirizu.