메뉴 건너뛰기




Volumn 135 A, Issue 2, 2005, Pages 166-170

EMX2-independent familial schizencephaly: Clinical and genetic analyses

Author keywords

Brain malformation; EMX2; Epilepsy; Familial schizencephaly; Polymicrogyria

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EMX2; UNCLASSIFIED DRUG;

EID: 20044385426     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30734     Document Type: Article
Times cited : (19)

References (32)
  • 1
    • 0000684034 scopus 로고    scopus 로고
    • Congenital malformations of the brain and skull
    • Barkovich AJ, editor. Philadelphia: Lippincott, Williams and Wilkins
    • Barkovich AJ. 2000. Congenital malformations of the brain and skull. In: Barkovich AJ, editor. Pediatric neuroimaging, 3rd ed. Philadelphia: Lippincott, Williams and Wilkins, pp 289-292.
    • (2000) Pediatric Neuroimaging, 3rd Ed. , pp. 289-292
    • Barkovich, A.J.1
  • 2
    • 0026563229 scopus 로고
    • Schizencephaly: Correlation of clinical findings with MR characteristics
    • Barkovich AJ, Kjos BO. 1992. Schizencephaly: Correlation of clinical findings with MR characteristics. AJNR 13:85-94.
    • (1992) AJNR , vol.13 , pp. 85-94
    • Barkovich, A.J.1    Kjos, B.O.2
  • 3
    • 20044369291 scopus 로고    scopus 로고
    • Schizencephaly
    • Barth PG, editor. London: MacKeith Press
    • Battaglia G, Granata T. 2003. Schizencephaly. In: Barth PG, editor. Disorders of neuronal migration. London: MacKeith Press, pp 127-134.
    • (2003) Disorders of Neuronal Migration , pp. 127-134
    • Battaglia, G.1    Granata, T.2
  • 4
    • 0034646993 scopus 로고    scopus 로고
    • Regulation of area identity in the mammalian neocortex by Emx2 and Pax6
    • Bishop KM, Goudreau G, O'Leary DD. 2000. Regulation of area identity in the mammalian neocortex by Emx2 and Pax6. Science 288:344-349.
    • (2000) Science , vol.288 , pp. 344-349
    • Bishop, K.M.1    Goudreau, G.2    O'Leary, D.D.3
  • 9
    • 0041708066 scopus 로고    scopus 로고
    • Emx2 patterns the neocortex by regulating FGF positional signaling
    • Fukuchi-Shimogori T, Grove EA. 2003. Emx2 patterns the neocortex by regulating FGF positional signaling. Nat Neurosci 6:825-831.
    • (2003) Nat Neurosci , vol.6 , pp. 825-831
    • Fukuchi-Shimogori, T.1    Grove, E.A.2
  • 12
    • 0034098774 scopus 로고    scopus 로고
    • Allegro, a new computer program for multipoint linkage analysis
    • Gudbjartsson DF, Jonasson K, Frigge M, Kong A. 2000. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12-13.
    • (2000) Nat Genet , vol.25 , pp. 12-13
    • Gudbjartsson, D.F.1    Jonasson, K.2    Frigge, M.3    Kong, A.4
  • 13
    • 0034794713 scopus 로고    scopus 로고
    • Epilepsy and genetic malformations of the cerebral cortex
    • Guerrini R, Carrozo R. 2001. Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet 106:160-173.
    • (2001) Am J Med Genet , vol.106 , pp. 160-173
    • Guerrini, R.1    Carrozo, R.2
  • 14
    • 0038069222 scopus 로고    scopus 로고
    • Unilateral schizencephaly and contralateral polymicrogyria associated with umbilical cord mass
    • Hahn JS, Lewis AJ. 2003. Unilateral schizencephaly and contralateral polymicrogyria associated with umbilical cord mass. J Child Neurol 18:232-234.
    • (2003) J Child Neurol , vol.18 , pp. 232-234
    • Hahn, J.S.1    Lewis, A.J.2
  • 15
    • 4043118347 scopus 로고    scopus 로고
    • EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors
    • Hamasaki T, Leingartner A, Ringstedt T, O'Leary DD. 2004. EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors. Neuron 43:359-372.
    • (2004) Neuron , vol.43 , pp. 359-372
    • Hamasaki, T.1    Leingartner, A.2    Ringstedt, T.3    O'Leary, D.D.4
  • 17
    • 0036955950 scopus 로고    scopus 로고
    • Morphological features and associated anomalies of schizencephaly in the clinical population: Detailed analysis of MR images
    • Hayashi N, Tsutsumi Y, Barkovich AJ. 2002. Morphological features and associated anomalies of schizencephaly in the clinical population: Detailed analysis of MR images. Neuroradiology 44:418-427.
    • (2002) Neuroradiology , vol.44 , pp. 418-427
    • Hayashi, N.1    Tsutsumi, Y.2    Barkovich, A.J.3
  • 20
    • 0026577491 scopus 로고
    • Schizencephaly: Case report of familial incidence
    • Hosley MA, Abroms IF, Ragland RL. 1992. Schizencephaly: Case report of familial incidence. Pediatr Neurol 8:148-150.
    • (1992) Pediatr Neurol , vol.8 , pp. 148-150
    • Hosley, M.A.1    Abroms, I.F.2    Ragland, R.L.3
  • 22
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. 1996. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 23
    • 0028322291 scopus 로고
    • A case of severe neonatal thrombocytopenia with schizencephaly associated with anti-HPA-1b and anti-HPA-2a
    • Kuijpers RWAM, van den Anker JN, Baerts W, von dem Borne AEGK. 1994. A case of severe neonatal thrombocytopenia with schizencephaly associated with anti-HPA-1b and anti-HPA-2a. Br J Haematol 87:576-579.
    • (1994) Br J Haematol , vol.87 , pp. 576-579
    • Kuijpers, R.W.A.M.1    Van Den Anker, J.N.2    Baerts, W.3    Von Dem Borne, A.E.G.K.4
  • 24
    • 0028074990 scopus 로고
    • Schizencephaly, consequence of a developmental vasculopathy?
    • Landrieu P, Lacroix C. 1994. Schizencephaly, consequence of a developmental vasculopathy? Clin Neuropathol 13:192-196.
    • (1994) Clin Neuropathol , vol.13 , pp. 192-196
    • Landrieu, P.1    Lacroix, C.2
  • 26
    • 0034143343 scopus 로고    scopus 로고
    • The lack of Emx2 causes impairment of Reelin signaling and defects of neuronal migration in the developing cerebral cortex
    • Mallamaci A, Mercurio S, Muzio L, Cecchi C, Pardini CL, Gruss P, Boncinelli E. 2000b. The lack of Emx2 causes impairment of Reelin signaling and defects of neuronal migration in the developing cerebral cortex. J Neurosci 20:1109-1118.
    • (2000) J Neurosci , vol.20 , pp. 1109-1118
    • Mallamaci, A.1    Mercurio, S.2    Muzio, L.3    Cecchi, C.4    Pardini, C.L.5    Gruss, P.6    Boncinelli, E.7
  • 27
    • 0018901750 scopus 로고
    • Bilateral encephaloclastic lesions in a 26 week gestation fetus: Effect on neuroblast migration
    • Norman MG. 1980. Bilateral encephaloclastic lesions in a 26 week gestation fetus: Effect on neuroblast migration. Can J Neurol Sci 7:191-194.
    • (1980) Can J Neurol Sci , vol.7 , pp. 191-194
    • Norman, M.G.1
  • 28
    • 0342813139 scopus 로고    scopus 로고
    • Schizencephaly: Correlations of clinical and radiologic features
    • Packard AM, Miller VS, Delgado MR. 1997. Schizencephaly: Correlations of clinical and radiologic features. Neurology 48:1427-1434.
    • (1997) Neurology , vol.48 , pp. 1427-1434
    • Packard, A.M.1    Miller, V.S.2    Delgado, M.R.3
  • 29
    • 0031813276 scopus 로고    scopus 로고
    • Schizencephaly and congenital cytomegalovirus infection
    • Sener RN. 1998. Schizencephaly and congenital cytomegalovirus infection. J Neuroradiol 25:151-152.
    • (1998) J Neuroradiol , vol.25 , pp. 151-152
    • Sener, R.N.1
  • 30
    • 0028304176 scopus 로고
    • Schizencephaly: Antenatal and postnatal assessment with colour-flow Doppler imaging
    • Suchet IB. 1994. Schizencephaly: Antenatal and postnatal assessment with colour-flow Doppler imaging. Can Assoc Radiol J 45:193-200.
    • (1994) Can Assoc Radiol J , vol.45 , pp. 193-200
    • Suchet, I.B.1
  • 31
    • 0000541397 scopus 로고
    • Schizencephalies: A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips
    • Yakovlev PL, Wadsworth RC. 1946a. Schizencephalies: A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 5:116-130.
    • (1946) J Neuropathol Exp Neurol , vol.5 , pp. 116-130
    • Yakovlev, P.L.1    Wadsworth, R.C.2
  • 32
    • 0000541396 scopus 로고
    • Schizencephalies: A study of congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated
    • Yakovlev PL, Wadsworth RC. 1946b. Schizencephalies: A study of congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 5:169-206.
    • (1946) J Neuropathol Exp Neurol , vol.5 , pp. 169-206
    • Yakovlev, P.L.1    Wadsworth, R.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.