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Volumn 26, Issue 2, 2011, Pages 223-227

Deletion of 14-3-3ε and CRK: A clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy

Author keywords

developmental; epilepsy; genetics; Miller Dieker syndrome

Indexed keywords

ADAPTOR PROTEIN; PROTEIN 14 3 3; PROTEIN 14 3 3 EPSILON; PROTEIN CRK; UNCLASSIFIED DRUG;

EID: 79551645319     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810379638     Document Type: Article
Times cited : (25)

References (11)
  • 1
    • 0037390829 scopus 로고    scopus 로고
    • Lissencephaly and the molecular basis of neuronal migration
    • Kato M., Dobyns WB Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003 ; 12: R89 - R96.
    • (2003) Hum Mol Genet , vol.12
    • Kato, M.1    Dobyns, W.B.2
  • 2
    • 34548565750 scopus 로고    scopus 로고
    • Lissencephaly and LIS1: Insights into the molecular mechanisms of neuronal migration and development
    • Wynshaw-Boris A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin Genet. 2007 ; 72: 296-304.
    • (2007) Clin Genet , vol.72 , pp. 296-304
    • Wynshaw-Boris, A.1
  • 3
    • 0037385481 scopus 로고    scopus 로고
    • Refinement of a 400-kb critical region allows genotypic differentiation between isolated issencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
    • Cardoso C., Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated issencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 ; 72: 918-930.
    • (2003) Am J Hum Genet , vol.72 , pp. 918-930
    • Cardoso, C.1    Leventer, R.J.2    Ward, H.L.3
  • 4
    • 0038757833 scopus 로고    scopus 로고
    • 14-3-3ε is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome
    • Toyo-oka K., Shionoya A., Gambello MJ, et al. 14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 ; 34: 274-285.
    • (2003) Nat Genet , vol.34 , pp. 274-285
    • Toyo-Oka, K.1    Shionoya, A.2    Gambello, M.J.3
  • 5
    • 0031771750 scopus 로고    scopus 로고
    • Physiological signals and oncogenesis mediated through CRK family adaptor proteins
    • Feller SM, Posern G., Voss J., et al. Physiological signals and oncogenesis mediated through CRK family adaptor proteins. J Cell Physiol. 1998 ; 177: 535-552.
    • (1998) J Cell Physiol , vol.177 , pp. 535-552
    • Feller, S.M.1    Posern, G.2    Voss, J.3
  • 6
    • 34948815565 scopus 로고    scopus 로고
    • Subtelomeric imbalances in phenotypically normal individuals
    • Balikova I., Menten B., de Ravel T., et al. Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat. 2007 ; 28: 958-967.
    • (2007) Hum Mutat , vol.28 , pp. 958-967
    • Balikova, I.1    Menten, B.2    De Ravel, T.3
  • 7
    • 4444242261 scopus 로고    scopus 로고
    • Mild Wolf-Hirschhorn syndrome: Micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
    • Van Buggenhout G., Melotte C., Dutta B., et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet. 2004 ; 41: 691-698.
    • (2004) J Med Genet , vol.41 , pp. 691-698
    • Van Buggenhout, G.1    Melotte, C.2    Dutta, B.3
  • 8
    • 55949096849 scopus 로고    scopus 로고
    • Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3
    • South ST, Hannes F., Fisch GS, et al. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3 Am J Med Genet C Semin Med Genet. 2008 ; 148C: 270-274.
    • (2008) Am J Med Genet C Semin Med Genet , vol.148 , pp. 270-274
    • South, S.T.1    Hannes, F.2    Fisch, G.S.3
  • 9
    • 70350167612 scopus 로고    scopus 로고
    • Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
    • Nagamani SC, Zhang F., Shchelochkov OA, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 ; 46: 825-833.
    • (2009) J Med Genet , vol.46 , pp. 825-833
    • Nagamani, S.C.1    Zhang, F.2    Shchelochkov, O.A.3
  • 10
    • 0034802367 scopus 로고    scopus 로고
    • Chromosome imbalances associated with epilepsy
    • Schinzel A., Niedrist D. Chromosome imbalances associated with epilepsy. Am J Med Genet. 2001 ; 106: 119-124.
    • (2001) Am J Med Genet , vol.106 , pp. 119-124
    • Schinzel, A.1    Niedrist, D.2
  • 11
    • 0036123516 scopus 로고    scopus 로고
    • Chromosome abnormalities and epilepsy: A review for clinicians and gene hunters
    • Singh R., Gardner RJ, Crossland KM, et al. Chromosome abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia. 2002 ; 43: 127-140.
    • (2002) Epilepsia , vol.43 , pp. 127-140
    • Singh, R.1    Gardner, R.J.2    Crossland, K.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.