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Volumn 51, Issue 5, 1997, Pages 326-330

Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome?

Author keywords

Cerebellar hypoplasia; Lissencephaly; Myoclonic epilepsy

Indexed keywords

ADULT; AGYRIA; ARAB; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; DISEASE ASSOCIATION; FEMALE; HUMAN; JOINT CONTRACTURE; MALE; MENTAL DEFICIENCY; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROGNATHIA; SPASTIC PARAPLEGIA; SPASTICITY; SYNDROME;

EID: 0030959134     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02482.x     Document Type: Article
Times cited : (21)

References (13)
  • 1
    • 0027967042 scopus 로고
    • X-linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus
    • Berry Kravis E, Israel J. X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol 1994: 36: 229-233.
    • (1994) Ann Neurol , vol.36 , pp. 229-233
    • Berry Kravis, E.1    Israel, J.2
  • 2
    • 0028186921 scopus 로고
    • EEG changes in type 1 and type 2 lissencephaly
    • Bode H, Bubl R. EEG changes in type 1 and type 2 lissencephaly. Klin Pediatr 1994: 206: 12-17.
    • (1994) Klin Pediatr , vol.206 , pp. 12-17
    • Bode, H.1    Bubl, R.2
  • 7
    • 0027486966 scopus 로고
    • Lissencephaly, a human brain malformation associated with deletion of the ILS1 gene located on chromosome 17p13
    • Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly, a human brain malformation associated with deletion of the ILS1 gene located on chromosome 17p13. J Am Med Assoc 1993: 270: 2838-2842.
    • (1993) J Am Med Assoc , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 8
    • 0021174658 scopus 로고
    • Syndromes with lissencephaly 1: Miller-Dieker, Norman-Roberts syndromes and isolated lissencephaly
    • Dobyns WB, Stratton RF, Greenberg F. Syndromes with lissencephaly 1: Miller-Dieker, Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet 1984: 18: 509-526.
    • (1984) Am J Med Genet , vol.18 , pp. 509-526
    • Dobyns, W.B.1    Stratton, R.F.2    Greenberg, F.3
  • 11
    • 0026094183 scopus 로고
    • Detection of deletions and cryptic translocations in Miller-Dicker syndrome by in situ hybridization
    • Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dicker syndrome by in situ hybridization. Am J Hum Genet 1991: 49: 707-714.
    • (1991) Am J Hum Genet , vol.49 , pp. 707-714
    • Kuwano, A.1    Ledbetter, S.A.2    Dobyns, W.B.3    Emanuel, B.S.4    Ledbetter, D.H.5
  • 12
    • 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: 182-189.
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.