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Volumn 19, Issue 4, 2009, Pages 177-185

Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization

Author keywords

Array comparative genomic hybridization; Autism spectrum disorder; Copy number variation; DEFENSIN

Indexed keywords

DEFENSIN;

EID: 68949177123     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/YPG.0b013e32832bdafa     Document Type: Article
Times cited : (28)

References (33)
  • 1
    • 26444577882 scopus 로고    scopus 로고
    • Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3.
    • Aldred PM, Hollox EJ, Armour JA (2005). Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. Hum Mol Genet 14:2045-2052.
    • (2005) Hum Mol Genet , vol.14 , pp. 2045-2052
    • Aldred, P.M.1    Hollox, E.J.2    Armour, J.A.3
  • 3
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
    • Autism Genome Project Consortium
    • Autism Genome Project Consortium (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319-328.
    • (2007) Nat Genet , vol.39 , pp. 319-328
  • 4
    • 0029872978 scopus 로고    scopus 로고
    • Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives.
    • Bailey A, Phillips W, Rutter M (1996). Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry 37:89-126.
    • (1996) J Child Psychol Psychiatry , vol.37 , pp. 89-126
    • Bailey, A.1    Phillips, W.2    Rutter, M.3
  • 5
  • 7
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
    • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. (2007). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25-27.
    • (2007) Nat Genet , vol.39 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3    Bockmann, J.4    Chaste, P.5    Fauchereau, F.6
  • 8
    • 0035653670 scopus 로고    scopus 로고
    • Genetics of autism: Complex aetiology for a heterogeneous disorder.
    • Folstein SE, Rosen-Sheidley B (2001). Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943-955.
    • (2001) Nat Rev Genet , vol.2 , pp. 943-955
    • Folstein, S.E.1    Rosen-Sheidley, B.2
  • 10
    • 0033569682 scopus 로고    scopus 로고
    • Defensins and host defense.
    • Ganz T (1999). Defensins and host defense. Science 286:420-421.
    • (1999) Science , vol.286 , pp. 420-421
    • Ganz, T.1
  • 11
    • 0042387792 scopus 로고    scopus 로고
    • Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.
    • Hollox EJ, Armour JA, Barber JC (2003). Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 73:591-600.
    • (2003) Am J Hum Genet , vol.73 , pp. 591-600
    • Hollox, E.J.1    Armour, J.A.2    Barber, J.C.3
  • 13
    • 33751257500 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
    • Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, et al. (2006). Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 43:843-849.
    • (2006) J Med Genet , vol.43 , pp. 843-849
    • Jacquemont, M.L.1    Sanlaville, D.2    Redon, R.3    Raoul, O.4    Cormier-Daire, V.5    Lyonnet, S.6
  • 14
    • 19544370909 scopus 로고    scopus 로고
    • ArrayCyGHt: A web application for analysis and visualization of array-CGH data.
    • Kim SY, Nam SW, Lee SH, Park WS, Yoo NJ, Lee JY, et al. (2005). ArrayCyGHt: a web application for analysis and visualization of array-CGH data. Bioinformatics 21:2554-2555.
    • (2005) Bioinformatics , vol.21 , pp. 2554-2555
    • Kim, S.Y.1    Nam, S.W.2    Lee, S.H.3    Park, W.S.4    Yoo, N.J.5    Lee, J.Y.6
  • 15
    • 33845649043 scopus 로고    scopus 로고
    • Recurrent genomic alterations with impact on survival in colorectal cancer identified by genome-wide array comparative genomic hybridization.
    • Kim MY, Yim SH, Kwon MS, Kim TM, Shin SH, Kang HM, et al. (2006). Recurrent genomic alterations with impact on survival in colorectal cancer identified by genome-wide array comparative genomic hybridization. Gastroenterology 131:1913-1924.
    • (2006) Gastroenterology , vol.131 , pp. 1913-1924
    • Kim, M.Y.1    Yim, S.H.2    Kwon, M.S.3    Kim, T.M.4    Shin, S.H.5    Kang, H.M.6
  • 16
    • 0032794689 scopus 로고    scopus 로고
    • Chromosomal abnormalities in a series of children with autistic disorder.
    • Konstantareas MM, Homatidis S (1999). Chromosomal abnormalities in a series of children with autistic disorder. J Autism Dev Disord 29:275-285.
    • (1999) J Autism Dev Disord , vol.29 , pp. 275-285
    • Konstantareas, M.M.1    Homatidis, S.2
  • 17
    • 0033013602 scopus 로고    scopus 로고
    • Infantile autism and associated autosomal chromosome abnormalities: A register-based study and a literature survey.
    • Lauritsen M, Mors O, Mortensen PB, Ewald H (1999). Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. J Child Psychol Psychiatry 40:335-345.
    • (1999) J Child Psychol Psychiatry , vol.40 , pp. 335-345
    • Lauritsen, M.1    Mors, O.2    Mortensen, P.B.3    Ewald, H.4
  • 18
    • 29144457296 scopus 로고    scopus 로고
    • Human defensin gene copy number polymorphisms: Comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.
    • Linzmeier RM, Ganz T (2005). Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23. Genomics 86:423-430.
    • (2005) Genomics , vol.86 , pp. 423-430
    • Linzmeier, R.M.1    Ganz, T.2
  • 19
    • 33746513094 scopus 로고    scopus 로고
    • Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
    • Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, et al. (2006). Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79:275-290.
    • (2006) Am J Hum Genet , vol.79 , pp. 275-290
    • Locke, D.P.1    Sharp, A.J.2    McCarroll, S.A.3    McGrath, S.D.4    Newman, T.L.5    Cheng, Z.6
  • 21
    • 33750264371 scopus 로고    scopus 로고
    • A precise mRNA quantification method using capillary electrophoresis- based single-strand conformation polymorphism.
    • Park YS, Chu HS, Hwang SH, Seo JH, Choi CY, Jung GY (2006). A precise mRNA quantification method using capillary electrophoresis-based single-strand conformation polymorphism. Electrophoresis 27:3836-3845.
    • (2006) Electrophoresis , vol.27 , pp. 3836-3845
    • Park, Y.S.1    Chu, H.S.2    Hwang, S.H.3    Seo, J.H.4    Choi, C.Y.5    Jung, G.Y.6
  • 22
    • 0026785695 scopus 로고
    • Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.
    • Pettenati MJ, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomas IT (1992). Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 89:602-606.
    • (1992) Hum Genet , vol.89 , pp. 602-606
    • Pettenati, M.J.1    Rao, N.2    Johnson, C.3    Hayworth, R.4    Crandall, K.5    Huff, O.6    Thomas, I.T.7
  • 25
    • 17744395755 scopus 로고    scopus 로고
    • Autism research: Lessons from the past and prospects for the future.
    • Rutter M (2005). Autism research: lessons from the past and prospects for the future. J Autism Dev Disord 35:241-257.
    • (2005) J Autism Dev Disord , vol.35 , pp. 241-257
    • Rutter, M.1
  • 28
    • 25844490588 scopus 로고    scopus 로고
    • The new cytogenetics: Blurring the boundaries with molecular biology.
    • Speicher MR, Carter NP (2005). The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 6:782-792.
    • (2005) Nat Rev Genet , vol.6 , pp. 782-792
    • Speicher, M.R.1    Carter, N.P.2
  • 32
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.
    • Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L (2006). Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11 :18-28.
    • (2006) Mol Psychiatry , vol.11 , pp. 18-28
    • Vorstman, J.A.1    Staal, W.G.2    Van Daalen, E.3    Van Engeland, H.4    Hochstenbach, P.F.5    Franke, L.6
  • 33
    • 33748434001 scopus 로고    scopus 로고
    • Linkage disequilibrium analyses in the Costa Rican population suggests discrete gene loci for schizophrenia at 8p23.1 and 8q13.3.
    • Walss-Bass C, Montero AP, Armas R, Dassori A, Contreras SA, Liu W, et al. (2006). Linkage disequilibrium analyses in the Costa Rican population suggests discrete gene loci for schizophrenia at 8p23.1 and 8q13.3. Psychiatr Genet 16:159-168.
    • (2006) Psychiatr Genet , vol.16 , pp. 159-168
    • Walss-Bass, C.1    Montero, A.P.2    Armas, R.3    Dassori, A.4    Contreras, S.A.5    Liu, W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.