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Volumn 166, Issue 2, 2014, Pages 117-123

Introduction: Brain malformations

Author keywords

Brain malformations; Genetics; Review

Indexed keywords

ALEXANDER DISEASE; ARTICLE; BRAIN MALFORMATION; GENE FUNCTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MULTIGENE FAMILY; NEUROIMAGING; PRIORITY JOURNAL; ANIMAL; BRAIN; GENETICS; NERVOUS SYSTEM MALFORMATION;

EID: 84902491646     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31404     Document Type: Article
Times cited : (14)

References (24)
  • 1
    • 33646377640 scopus 로고    scopus 로고
    • Cardiac disease and Rett syndrome
    • Acampa M, Guideri F. 2006. Cardiac disease and Rett syndrome. Arch Dis Child 91:440-443.
    • (2006) Arch Dis Child , vol.91 , pp. 440-443
    • Acampa, M.1    Guideri, F.2
  • 3
    • 84860633072 scopus 로고    scopus 로고
    • A developmental and genetic classification for malformations of cortical development: Update 2012
    • Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. 2012. A developmental and genetic classification for malformations of cortical development: Update 2012. Brain 135:1348-1369.
    • (2012) Brain , vol.135 , pp. 1348-1369
    • Barkovich, A.J.1    Guerrini, R.2    Kuzniecky, R.I.3    Jackson, G.D.4    Dobyns, W.B.5
  • 12
    • 58149343267 scopus 로고    scopus 로고
    • Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder
    • Manent J-B, Wang Y, Chang Y, Paramasivam M, LoTurco JJ. 2009. Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. Nat Med 15:84-90.
    • (2009) Nat Med , vol.15 , pp. 84-90
    • Manent, J.-B.1    Wang, Y.2    Chang, Y.3    Paramasivam, M.4    LoTurco, J.J.5
  • 14
    • 84899907402 scopus 로고    scopus 로고
    • The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications
    • Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. 2014. The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications. Am J Med Genet Part A 164:1503-1511.
    • (2014) Am J Med Genet Part A , vol.164 , pp. 1503-1511
    • Mirzaa, G.M.1    Millen, K.J.2    Barkovich, A.J.3    Dobyns, W.B.4    Paciorkowski, A.R.5
  • 15
    • 80054914893 scopus 로고    scopus 로고
    • Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx
    • Parsley L, Bellus G, Handler M, Tsai AC-H. 2011. Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet Part A 155A:2766-2770.
    • (2011) Am J Med Genet Part A , vol.155 A , pp. 2766-2770
    • Parsley, L.1    Bellus, G.2    Handler, M.3    Tsai, A.-H.4
  • 17
    • 84874902507 scopus 로고
    • Rubinstein-Taybi syndrome
    • In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, Stephens K, editors. Seattle, WA: University of Washington, Seattle.
    • Stevens CA. 1993. Rubinstein-Taybi syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, Stephens K, editors. GeneReviews(®). Seattle, WA: University of Washington, Seattle.
    • (1993) GeneReviews(®)
    • Stevens, C.A.1
  • 20
    • 82955167982 scopus 로고    scopus 로고
    • So what? Does the test lead to improved health outcomes
    • Trevathan E. 2011. So what? Does the test lead to improved health outcomes? Neurology 77:1586-1587.
    • (2011) Neurology , vol.77 , pp. 1586-1587
    • Trevathan, E.1
  • 21
    • 0036257263 scopus 로고    scopus 로고
    • Significance of microcephaly among children with developmental disabilities
    • Watemberg N, Silver S, Harel S, Lerman-Sagie T. 2002. Significance of microcephaly among children with developmental disabilities. J Child Neurol 17:117-122.
    • (2002) J Child Neurol , vol.17 , pp. 117-122
    • Watemberg, N.1    Silver, S.2    Harel, S.3    Lerman-Sagie, T.4
  • 22
    • 78049276672 scopus 로고    scopus 로고
    • Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies
    • Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S. 2010. Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies. Semin Cell Dev Biol 21:823-830.
    • (2010) Semin Cell Dev Biol , vol.21 , pp. 823-830
    • Wynshaw-Boris, A.1    Pramparo, T.2    Youn, Y.H.3    Hirotsune, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.