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Volumn 48, Issue 5, 1997, Pages 1403-1406

Familial schizencephaly associated with EMX2 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; FAMILIAL DISEASE; GENETIC LINKAGE; HOMEOBOX; HUMAN; MALE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; SCHIZENCEPHALY; SCHOOL CHILD;

EID: 0030975567     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.5.1403     Document Type: Article
Times cited : (140)

References (12)
  • 1
    • 0000541397 scopus 로고
    • Schizencephalies. A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips
    • Yakovlev PI, Wadsworth RC. Schizencephalies. A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 1946;5:116-130.
    • (1946) J Neuropathol Exp Neurol , vol.5 , pp. 116-130
    • Yakovlev, P.I.1    Wadsworth, R.C.2
  • 2
    • 0000541396 scopus 로고
    • Schizencephalics. A study of the congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated
    • Yakovlev PI, Wadsworth RC. Schizencephalics. A study of the congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946;5:169-206.
    • (1946) J Neuropathol Exp Neurol , vol.5 , pp. 169-206
    • Yakovlev, P.I.1    Wadsworth, R.C.2
  • 3
    • 0026563229 scopus 로고
    • Schizencephaly: Correlation of clinical findings with MR characteristics
    • Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNK Am J Neuroradiol 1992;13:85-94.
    • (1992) AJNK Am J Neuroradiol , vol.13 , pp. 85-94
    • Barkovich, A.J.1    Kjos, B.O.2
  • 4
    • 0029806567 scopus 로고    scopus 로고
    • Schizencephaly: Neuradiologic and epileptologic findings
    • Granata T, Battaglia G, D'Incerti L, et al. Schizencephaly: neuradiologic and epileptologic findings. Epilepsia 1996;37:1185-1193.
    • (1996) Epilepsia , vol.37 , pp. 1185-1193
    • Granata, T.1    Battaglia, G.2    D'Incerti, L.3
  • 6
    • 0030065606 scopus 로고    scopus 로고
    • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
    • Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996;12:94-96.
    • (1996) Nat Genet , vol.12 , pp. 94-96
    • Brunelli, S.1    Faiella, A.2    Capra, V.3
  • 7
    • 0029871937 scopus 로고    scopus 로고
    • Emx1 and Emx2 show different patterns of expression during proliferation and differentiation of the developing cerebral cortex in the mouse
    • Gulisano M, Broccoli V, Pardini C, Boncinelli E. Emx1 and Emx2 show different patterns of expression during proliferation and differentiation of the developing cerebral cortex in the mouse. Eur J Neurosci 1996;8:1037-1050.
    • (1996) Eur J Neurosci , vol.8 , pp. 1037-1050
    • Gulisano, M.1    Broccoli, V.2    Pardini, C.3    Boncinelli, E.4
  • 9
    • 0027432990 scopus 로고
    • Members of the Dlx- and Nkx-2 gene families are regionally expressed in the developing forebrain
    • Price M. Members of the Dlx- and Nkx-2 gene families are regionally expressed in the developing forebrain. J Neurobiol 1993;24:1385-1399.
    • (1993) J Neurobiol , vol.24 , pp. 1385-1399
    • Price, M.1
  • 10
    • 0027232546 scopus 로고
    • Spatially restricted expression of Dlx-1, Dlx-2 (Tes-1), Gbx-2, and Wnt-3 in the embryonic day 12.5 mouse forebrain defines potential transverse and longitudinal segmental boundaries
    • Bulfone A, Puelles L, Porteus MH, Frohman MA, Martin GR, Rubenstein JLR. Spatially restricted expression of Dlx-1, Dlx-2 (Tes-1), Gbx-2, and Wnt-3 in the embryonic day 12.5 mouse forebrain defines potential transverse and longitudinal segmental boundaries. J Neurosci 1993;13:3155-3172.
    • (1993) J Neurosci , vol.13 , pp. 3155-3172
    • Bulfone, A.1    Puelles, L.2    Porteus, M.H.3    Frohman, M.A.4    Martin, G.R.5    Rubenstein, J.L.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.