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Volumn 35, Issue 11, 1998, Pages 920-923

Classical lissencephaly syndromes: Does the face reflect the brain?

Author keywords

Lissencephaly; Miller Dieker syndrome; Pattern profiles

Indexed keywords

ADOLESCENT; AGYRIA; ARTICLE; BRACHYCEPHALY; CEPHALOMETRY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; EYE MALFORMATION; FACE MALFORMATION; FACIES; HUMAN; INFANT; MILLER DIEKER SYNDROME; NOSE MALFORMATION; PRIORITY JOURNAL;

EID: 0031733711     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.11.920     Document Type: Article
Times cited : (27)

References (13)
  • 1
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  • 3
    • 0026518338 scopus 로고
    • Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
    • Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet 1992;50:182-9.
    • (1992) Am J Hum Genet , vol.50 , pp. 182-189
    • Ledbetter, S.A.1    Kuwano, A.2    Dobyns, W.B.3    Ledbetter, D.H.4
  • 4
    • 0031046839 scopus 로고    scopus 로고
    • A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
    • Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997;6:147-55.
    • (1997) Hum Mol Genet , vol.6 , pp. 147-155
    • Chong, S.S.1    Pack, S.D.2    Roschke, A.V.3
  • 5
    • 10144257864 scopus 로고    scopus 로고
    • X-linked malformations of neuronal migration
    • Dobyns WB, Andermann E, Andermann F, et al. X-linked malformations of neuronal migration. Neurology 1996;47:331-9.
    • (1996) Neurology , vol.47 , pp. 331-339
    • Dobyns, W.B.1    Andermann, E.2    Andermann, F.3
  • 6
    • 0027486966 scopus 로고
    • Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.3
    • Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.3. JAMA 1993;270:2838-42.
    • (1993) JAMA , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 7
    • 17344372803 scopus 로고    scopus 로고
    • FISH analysis in 100 patients with isolated lissencephaly sequence (ILS): LIS1 probes significantly increase deletion detection rate
    • Pilz DT, Macha ME, Precht KS, Dobyns WB, Smith ACM, Ledbetter DH. FISH analysis in 100 patients with isolated lissencephaly sequence (ILS): LIS1 probes significantly increase deletion detection rate. Am J Hum Genet 1997;61: A32.
    • (1997) Am J Hum Genet , vol.61
    • Pilz, D.T.1    Macha, M.E.2    Precht, K.S.3    Dobyns, W.B.4    Smith, A.C.M.5    Ledbetter, D.H.6
  • 8
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene, in isolated lissencephaly sequence and Miller-Dieker syndrome
    • LoNigro C, Chong SS, Smith ACM, Dobyns WB, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene, in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 1997;6:157-64.
    • (1997) Hum Mol Genet , vol.6 , pp. 157-164
    • LoNigro, C.1    Chong, S.S.2    Smith, A.C.M.3    Dobyns, W.B.4    Ledbetter, D.H.5
  • 12
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    • Applications of pattern profile analysis to malformations of the head and face
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    • Garn, S.M.1    Smith, B.H.2    Lavelle, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.