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Volumn 160 C, Issue 2, 2012, Pages 118-129

The genetic variability and commonality of neurodevelopmental disease

Author keywords

Autism; Copy number variants; Genomic disorders; Intellectual disability; Schizophrenia; Variable penetrance

Indexed keywords

ARTICLE; COPY NUMBER VARIATION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL;

EID: 84860012868     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31327     Document Type: Article
Times cited : (98)

References (85)
  • 1
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan C, Coe BP, Eichler EE. 2011. Genome structural variation discovery and genotyping. Nat Rev Genet 12: 363- 376.
    • (2011) Nat Rev Genet , vol.12 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 2
    • 82555196668 scopus 로고    scopus 로고
    • Mutations causing syndromic autism define an axis of synaptic pathophysiology
    • Auerbach BD, Osterweil EK, Bear MF. 2011. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 480: 63- 68.
    • (2011) Nature , vol.480 , pp. 63-68
    • Auerbach, B.D.1    Osterweil, E.K.2    Bear, M.F.3
  • 9
    • 61649114881 scopus 로고    scopus 로고
    • Schizophrenia and epilepsy: Is there a shared susceptibility
    • Cascella NG, Schretlen DJ, Sawa A. 2009. Schizophrenia and epilepsy: Is there a shared susceptibility? Neurosci Res 63: 227- 235.
    • (2009) Neurosci Res , vol.63 , pp. 227-235
    • Cascella, N.G.1    Schretlen, D.J.2    Sawa, A.3
  • 11
    • 78349305817 scopus 로고    scopus 로고
    • 1.3Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child
    • Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW. 2010. 1.3Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child. Eur J Med Genet 53: 415- 418.
    • (2010) Eur J Med Genet , vol.53 , pp. 415-418
    • Cobb, W.1    Anderson, A.2    Turner, C.3    Hoffman, R.D.4    Schonberg, S.5    Levin, S.W.6
  • 19
    • 78650808443 scopus 로고    scopus 로고
    • Phenotypic variability and genetic susceptibility to genomic disorders
    • Girirajan S, Eichler EE. 2010. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19: R176- R187.
    • (2010) Hum Mol Genet , vol.19
    • Girirajan, S.1    Eichler, E.E.2
  • 20
    • 84155191464 scopus 로고    scopus 로고
    • De novo CNVs in bipolar disorder: recurrent themes or new directions
    • Girirajan S, Eichler EE. 2011. De novo CNVs in bipolar disorder: recurrent themes or new directions? Neuron 72: 885- 887.
    • (2011) Neuron , vol.72 , pp. 885-887
    • Girirajan, S.1    Eichler, E.E.2
  • 28
    • 67650064593 scopus 로고    scopus 로고
    • Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes
    • Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. 2009. Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res 19: 1270- 1278.
    • (2009) Genome Res , vol.19 , pp. 1270-1278
    • Hormozdiari, F.1    Alkan, C.2    Eichler, E.E.3    Sahinalp, S.C.4
  • 35
    • 84884976237 scopus 로고    scopus 로고
    • Evaluation of the revised algorithm of Autism Diagnostic Observation Schedule (ADOS) in the diagnostic investigation of high-functioning children and adolescents with autism spectrum disorders
    • May 24. [Epub ahead of print].
    • Kamp-Becker I, Ghahreman M, Heinzel-Gutenbrunner M, Peters M, Remschmidt H, Becker K. 2011. Evaluation of the revised algorithm of Autism Diagnostic Observation Schedule (ADOS) in the diagnostic investigation of high-functioning children and adolescents with autism spectrum disorders. Autism May 24. [Epub ahead of print].
    • (2011) Autism
    • Kamp-Becker, I.1    Ghahreman, M.2    Heinzel-Gutenbrunner, M.3    Peters, M.4    Remschmidt, H.5    Becker, K.6
  • 45
    • 69249212230 scopus 로고    scopus 로고
    • Intellectual disability and its relationship to autism spectrum disorders
    • Matson JL, Shoemaker M. 2009. Intellectual disability and its relationship to autism spectrum disorders. Res Dev Disabil 30: 1107- 1114.
    • (2009) Res Dev Disabil , vol.30 , pp. 1107-1114
    • Matson, J.L.1    Shoemaker, M.2
  • 49
    • 79952069900 scopus 로고    scopus 로고
    • The genetics of neurodevelopmental disease
    • Mitchell KJ. 2011. The genetics of neurodevelopmental disease. Curr Opin Neurobiol 21: 197- 203.
    • (2011) Curr Opin Neurobiol , vol.21 , pp. 197-203
    • Mitchell, K.J.1
  • 53
    • 0002391264 scopus 로고    scopus 로고
    • Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
    • Perez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U. 1996. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59: 781- 792.
    • (1996) Am J Hum Genet , vol.59 , pp. 781-792
    • Perez Jurado, L.A.1    Peoples, R.2    Kaplan, P.3    Hamel, B.C.4    Francke, U.5
  • 57
    • 80052855950 scopus 로고    scopus 로고
    • Gene environment interactions in bipolar disorder
    • Pregelj P. 2011. Gene environment interactions in bipolar disorder. Psychiatr Danub 23: S91- S93.
    • (2011) Psychiatr Danub , vol.23
    • Pregelj, P.1
  • 58
    • 80053385384 scopus 로고    scopus 로고
    • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    • Psychiatric GWAS Consortium Bipolar Disorder Working Group
    • Psychiatric GWAS Consortium Bipolar Disorder Working Group. 2011. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 43: 977- 983.
    • (2011) Nat Genet , vol.43 , pp. 977-983
  • 60
    • 85128251104 scopus 로고    scopus 로고
    • Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
    • Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. 2010. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord 2: 26- 38.
    • (2010) J Neurodev Disord , vol.2 , pp. 26-38
    • Rosenfeld, J.A.1    Coppinger, J.2    Bejjani, B.A.3    Girirajan, S.4    Eichler, E.E.5    Shaffer, L.G.6    Ballif, B.C.7
  • 70
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • The 1000 Genomes Project Consortium.
    • The 1000 Genomes Project Consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467: 1061- 1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 71
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • The International Schizophrenia Consortium.
    • The International Schizophrenia Consortium. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237- 241.
    • (2008) Nature , vol.455 , pp. 237-241
  • 73
    • 67349179787 scopus 로고    scopus 로고
    • Massively parallel exon capture and library-free resequencing across 16 genomes
    • Turner EH, Lee C, Ng SB, Nickerson DA, Shendure J. 2009. Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 6: 315- 316.
    • (2009) Nat Methods , vol.6 , pp. 315-316
    • Turner, E.H.1    Lee, C.2    Ng, S.B.3    Nickerson, D.A.4    Shendure, J.5
  • 79
    • 0023215296 scopus 로고
    • Implications of normal brain development for the pathogenesis of schizophrenia
    • Weinberger DR. 1987. Implications of normal brain development for the pathogenesis of schizophrenia. Arch Gen Psychiatry 44: 660- 669.
    • (1987) Arch Gen Psychiatry , vol.44 , pp. 660-669
    • Weinberger, D.R.1
  • 80
    • 0029119055 scopus 로고
    • From neuropathology to neurodevelopment
    • Weinberger DR. 1995. From neuropathology to neurodevelopment. Lancet 346: 552- 557.
    • (1995) Lancet , vol.346 , pp. 552-557
    • Weinberger, D.R.1
  • 83


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.