Molecular genetics of human microcephaly

Current Opinion in Neurology

Volumn 14, Issue 2, 2001, Pages 151-156

  Mochida, Ganeshwaran H ^a,b   Walsh, Christopher A ^a,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b HARVARD INSTITUTES OF MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DEGENERATION; BRAIN DEVELOPMENT; BRAIN GROWTH; BRAIN MALFORMATION; CELL DIFFERENTIATION; CELL PROLIFERATION; CELL SURVIVAL; EMBRYO PATTERN FORMATION; GENE LOCUS; GENE MAPPING; HUMAN; MICROCEPHALY; MOLECULAR GENETICS; RECESSIVE INHERITANCE; REVIEW;

BRAIN; DNA MUTATIONAL ANALYSIS; HOLOPROSENCEPHALY; HUMANS; MICROCEPHALY; MUTATION; NERVOUS SYSTEM MALFORMATIONS;

EID: 0035066971     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200104000-00003     Document Type: Review

References (40)

1. Analysis of lissencephaly-causing LIS1 mutations
2. Patient mutations in doublecortin define a repeated tubulin-binding domain
3. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
4. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
5. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
6. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
7. Mutational spectrum in the Δ7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
8. Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
9. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
10. PAK3 mutation in nonsyndromic X-linked mental retardation
11. Nijmegen breakage syndrome
12. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
13. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
14. Microcephaly with simplified gyral pattern in six related children
15. Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis
16. Microlissencephaly: A heterogeneous malformation of cortical development
17. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply
18. Genetic malformations of the human cerebral cortex
19. Recessive (true) microcephaly: A case report with neuropathological observations
20. Pathology of prenatal encephalopathies
21. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
22. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
23. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
24. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
25. Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
26. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
27. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
28. The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1
29. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
30. Microcephaly: General considerations and aids to nosology
31. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably shod stature to Xq12-q21.31
32. Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31
33. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
34. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
35. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
36. Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis
37. Role of founder cell deficit and delayed neuronogenesis in microencephaly of the trisomy 16 mouse
38. Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres
39. Defective limbic system in mice lacking the tailless gene