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Volumn 112, Issue 4, 2002, Pages 315-317

Primary microcephaly: New approaches for an old disorder

Author keywords

[No Author keywords available]

Indexed keywords

GENE MAPPING; GENETIC COUNSELING; HUMAN; MICROCEPHALY; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 0036837664     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10580     Document Type: Note
Times cited : (52)

References (18)
  • 3
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    • Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply
    • Dobyns WB, Barkovich AJ. 1999. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply. Neuropediatrics 30:104-106.
    • (1999) Neuropediatrics , vol.30 , pp. 104-106
    • Dobyns, W.B.1    Barkovich, A.J.2
  • 4
    • 0033060612 scopus 로고    scopus 로고
    • Oligogyric microcephaly
    • Hanefeld FA. 1999. Oligogyric microcephaly [Letter; Comment]. Neuropediatrics 30:102-106.
    • (1999) Neuropediatrics , vol.30 , pp. 102-106
    • Hanefeld, F.A.1
  • 6
    • 0033361792 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
    • Jamieson CR, Govaerts C, Abramowicz MJ. 1999. Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15 [Letter]. Am J Hum Genet 65:1465-1469.
    • (1999) Am J Hum Genet , vol.65 , pp. 1465-1469
    • Jamieson, C.R.1    Govaerts, C.2    Abramowicz, M.J.3
  • 8
    • 0036837666 scopus 로고    scopus 로고
    • Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
    • Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. 2002. Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 113.
    • (2002) Am J Med Genet , pp. 113
    • Kelley, R.I.1    Robinson, D.2    Puffenberger, E.G.3    Strauss, K.A.4    Morton, D.H.5
  • 10
    • 0025131567 scopus 로고
    • Microcephaly: General considerations and aids to nosology
    • Opitz JM, Holt MC. 1990. Microcephaly: General considerations and aids to nosology. J Craniofac Genet Dev Biol 10:175-204.
    • (1990) J Craniofac Genet Dev Biol , vol.10 , pp. 175-204
    • Opitz, J.M.1    Holt, M.C.2
  • 15
    • 0033612145 scopus 로고    scopus 로고
    • Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31
    • Shrimpton AE, Daly KM, Hoo JJ. 1999. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. Am J Med Genet 84:293-299.
    • (1999) Am J Med Genet , vol.84 , pp. 293-299
    • Shrimpton, A.E.1    Daly, K.M.2    Hoo, J.J.3
  • 16
    • 0034657044 scopus 로고    scopus 로고
    • Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31
    • Shrimpton AE, Braddock BR, Hoo JJ. 2000. Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31. Am J Med Genet 92:155-156.
    • (2000) Am J Med Genet , vol.92 , pp. 155-156
    • Shrimpton, A.E.1    Braddock, B.R.2    Hoo, J.J.3
  • 17
    • 0032783118 scopus 로고    scopus 로고
    • Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination, and arthrogryposis
    • Sztriha L, Al-Gazali LI, Varady E, Goebel HH, Nork M. 1999. Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination, and arthrogryposis. Neuropediatrics 30:141-145.
    • (1999) Neuropediatrics , vol.30 , pp. 141-145
    • Sztriha, L.1    Al-Gazali, L.I.2    Varady, E.3    Goebel, H.H.4    Nork, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.