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Volumn 7, Issue 6, 2003, Pages 389-392

What's new in neurogenetics? Focus on 'primary microcephaly'

Author keywords

Genes; Loci; Primary microcephaly

Indexed keywords

GENE PRODUCT; MICROCEPHALIN; UNCLASSIFIED DRUG;

EID: 0345307146     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejpn.2003.09.002     Document Type: Article
Times cited : (8)

References (19)
  • 1
    • 0002203594 scopus 로고    scopus 로고
    • Congenital anomalies of the central nervous system
    • Behrman RE, Kliegman RM, Jenson HB, editors. 16th ed. Philadelphia: Saunders
    • Haslam RHA. Congenital anomalies of the central nervous system. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson textbook of pediatrics, 16th ed. Philadelphia: Saunders; 2000. p. 1803-13.
    • (2000) Nelson Textbook of Pediatrics , pp. 1803-1813
    • Haslam, R.H.A.1
  • 2
    • 0025131567 scopus 로고
    • Microcephaly: General considerations and aids to nosology
    • Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol 1990;10: 1175-204.
    • (1990) J. Craniofac. Genet. Dev. Biol. , vol.10 , pp. 1175-1204
    • Opitz, J.M.1    Holt, M.C.2
  • 3
    • 85030935542 scopus 로고    scopus 로고
    • London Dysmorphology Database Version 3.0.3. London Medical Databases
    • Winter RM, Baraitser M. London Dysmorphology Database Version 3.0.3. London Medical Databases; 2003.
    • (2003)
    • Winter, R.M.1    Baraitser, M.2
  • 4
    • 0016633613 scopus 로고
    • A possible major contribution to mental retardation in the general population by the gene for microcephaly
    • Qazi QH, Reed TE. A possible major contribution to mental retardation in the general population by the gene for microcephaly. Clin Genet 1975;7:85-90.
    • (1975) Clin. Genet. , vol.7 , pp. 85-90
    • Qazi, Q.H.1    Reed, T.E.2
  • 5
    • 0035066971 scopus 로고    scopus 로고
    • Molecular genetics of human microcephaly
    • Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin Neurol 2001;14:151-6.
    • (2001) Curr. Opin. Neurol. , vol.14 , pp. 151-156
    • Mochida, G.H.1    Walsh, C.A.2
  • 6
    • 0004102539 scopus 로고
    • The genetics of neurological disorders
    • Oxford: Oxford University Press
    • Baraitser M. The genetics of neurological disorders. Oxford: Oxford University Press; 1982. p. 21-4.
    • (1982) , pp. 21-24
    • Baraitser, M.1
  • 7
    • 0036837664 scopus 로고    scopus 로고
    • Primary microcephaly: New approaches for an old disorder
    • Dobyns WB. Primary microcephaly: new approaches for an old disorder. Am J Med Genet 2002;112:315-7.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 315-317
    • Dobyns, W.B.1
  • 8
    • 0030024133 scopus 로고    scopus 로고
    • Recessive (true) microcephaly: A case report with neuropathological observations
    • McCreary BD, Rossiter JP, Robertson DM. Recessive (true) microcephaly: a case report with neuropathological observations. J Intellect Disabil Res 1996;40:66-70.
    • (1996) J. Intellect. Disabil. Res. , vol.40 , pp. 66-70
    • McCreary, B.D.1    Rossiter, J.P.2    Robertson, D.M.3
  • 9
    • 0032231397 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
    • Jackson AP, McHale DP, Campbell DA, et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998;63: 541-6.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 541-546
    • Jackson, A.P.1    McHale, D.P.2    Campbell, D.A.3
  • 10
    • 0036302105 scopus 로고    scopus 로고
    • Identification of Microcephalin, a protein implicated in determining the size of the human brain
    • Jackson AP, Eastwood H, Bell SH, et al. Identification of Microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002;71: 136-42.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 136-142
    • Jackson, A.P.1    Eastwood, H.2    Bell, S.H.3
  • 11
    • 0032752596 scopus 로고    scopus 로고
    • The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
    • Roberts E, Jackson AP, Carradice AC, et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 1999;7:815-20.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 815-820
    • Roberts, E.1    Jackson, A.P.2    Carradice, A.C.3
  • 12
    • 0033912946 scopus 로고    scopus 로고
    • A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
    • Moynihan L, Jackson AP, Roberts E, et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000;66: 724-7.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 724-727
    • Moynihan, L.1    Jackson, A.P.2    Roberts, E.3
  • 13
    • 0033361792 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
    • Jamieson CR, Govaerts C, Abramowicz MJ. Primary autosomal. recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 1999;65: 1465-9.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1465-1469
    • Jamieson, C.R.1    Govaerts, C.2    Abramowicz, M.J.3
  • 15
    • 0033660432 scopus 로고    scopus 로고
    • A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
    • Pattison L, Crow YJ, Deeble V, et al. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000;67:1578-80.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1578-1580
    • Pattison, L.1    Crow, Y.J.2    Deeble, V.3
  • 16
    • 0036787796 scopus 로고    scopus 로고
    • ASPM is a major determinant of cerebral cortical size
    • Bond J, Roberts E. Mochida GH, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet 2002;32: 316-20.
    • (2002) Nat. Genet. , vol.32 , pp. 316-320
    • Bond, J.1    Roberts, E.2    Mochida, G.H.3
  • 18
    • 18644367387 scopus 로고    scopus 로고
    • Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
    • Roberts E, Hampshire DJ, Pattison L, et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002;39:718-21.
    • (2002) J. Med. Genet. , vol.39 , pp. 718-721
    • Roberts, E.1    Hampshire, D.J.2    Pattison, L.3
  • 19
    • 0001836270 scopus 로고
    • Pathology of prenatal encephalopathies
    • French JH, Harel S, Casaer P, Gottlieb MI, Rapin I, De Vivo DC, editors. Selected Proceedings of the Fourth International Child Neurology Congress, Baltimore: Paul H Brookes
    • Evrard P, de Saint-Georges P, Kadhim HJ, Gadisseux JF. Pathology of prenatal encephalopathies. In: French JH, Harel S, Casaer P, Gottlieb MI, Rapin I, De Vivo DC, editors. Child neurology and developmental disabilities. Selected Proceedings of the Fourth International Child Neurology Congress, Baltimore: Paul H Brookes; 1989. p. 153-76.
    • (1989) Child Neurology and Developmental Disabilities , pp. 153-176
    • Evrard, P.1    de Saint-Georges, P.2    Kadhim, H.J.3    Gadisseux, J.F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.