메뉴 건너뛰기




Volumn 19, Issue 20, 2010, Pages 4072-4082

A genome-wide scan for common alleles affecting risk for autism

(166)  Anney, Richard a   Klei, Lambertus b   Pinto, Dalila c   Regan, Regina d   Conroy, Judith d   Magalhaes, Tiago R e,f   Correia, Catarina e,f   Abrahams, Brett S g   Sykes, Nuala h   Pagnamenta, Alistair T h   Almeida, Joana i   Bacchelli, Elena j   Bailey, Anthony J k   Baird, Gillian l   Battaglia, Agatino m   Berney, Tom n   Bolshakova, Nadia a   Bölte, Sven o   Bolton, Patrick F p   Bourgeron, Thomas q   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTISM; GENE FREQUENCY; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77957735529     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq307     Document Type: Article
Times cited : (486)

References (52)
  • 1
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook, E.H. Jr and Scherer, S.W. (2008) Copy-number variations associated with neuropsychiatric conditions. Nature, 455, 919-923.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook E.H., Jr.1    Scherer, S.W.2
  • 2
    • 0027997172 scopus 로고
    • Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord, C., Rutter, M. and Couteur, A. (1994) Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J. Autism Dev. Disord., 24, 659-685.
    • (1994) J. Autism Dev. Disord. , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Couteur, A.3
  • 3
    • 0033802632 scopus 로고    scopus 로고
    • The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism
    • Lord, C., Risi, S., Lambrecht, L., Cook, E.H. Jr, Leventhal, B.L., DiLavore, P.C., Pickles, A. and Rutter, M. (2000) The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J. Autism Dev. Disord., 30, 205-223.
    • (2000) J. Autism Dev. Disord. , vol.30 , pp. 205-223
    • Lord, C.1    Risi, S.2    Lambrecht, L.3    Cook E.H., Jr.4    Leventhal, B.L.5    DiLavore, P.C.6    Pickles, A.7    Rutter, M.8
  • 4
    • 67049118065 scopus 로고    scopus 로고
    • Epidemiology of pervasive developmental disorders
    • Fombonne, E. (2009) Epidemiology of pervasive developmental disorders. Pediatr. Res., 65, 591-598.
    • (2009) Pediatr. Res. , vol.65 , pp. 591-598
    • Fombonne, E.1
  • 5
    • 77950691205 scopus 로고    scopus 로고
    • Autism spectrum disorder diagnoses in Stockholm preschoolers
    • Fernell, E. and Gillberg, C. (2010) Autism spectrum disorder diagnoses in Stockholm preschoolers. Res. Dev. Disabil., 31, 680-685.
    • (2010) Res. Dev. Disabil. , vol.31 , pp. 680-685
    • Fernell, E.1    Gillberg, C.2
  • 9
    • 15744390996 scopus 로고    scopus 로고
    • Intergenerational transmission of subthreshold autistic traits in the general population
    • Constantino, J.N. and Todd, R.D. (2005) Intergenerational transmission of subthreshold autistic traits in the general population. Biol. Psychiatry, 57, 655-660.
    • (2005) Biol. Psychiatry , vol.57 , pp. 655-660
    • Constantino, J.N.1    Todd, R.D.2
  • 16
    • 77949718910 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
    • Fernandez, B.A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A.M., Mackay, S., Whitten, K., Noble, B. et al. (2010) Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J. Med. Genet., 47, 195-203.
    • (2010) J. Med. Genet. , vol.47 , pp. 195-203
    • Fernandez, B.A.1    Roberts, W.2    Chung, B.3    Weksberg, R.4    Meyn, S.5    Szatmari, P.6    Joseph-George, A.M.7    Mackay, S.8    Whitten, K.9    Noble, B.10
  • 19
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: on the threshold of a new neurobiology
    • Abrahams, B.S. and Geschwind, D.H. (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet., 9, 341-355.
    • (2008) Nat. Rev. Genet. , vol.9 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 21
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Gene Discovery Project of Johns Hopkins & the Autism Consortium
    • Weiss, L.A., Arking, D.E., Daly, M.J. and Chakravarti, A. Gene Discovery Project of Johns Hopkins & the Autism Consortium (2009) A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461, 802-808.
    • (2009) Nature , vol.461 , pp. 802-808
    • Weiss, L.A.1    Arking, D.E.2    Daly, M.J.3    Chakravarti, A.4
  • 22
    • 0035209177 scopus 로고    scopus 로고
    • Large upward bias in estimation of locus-specific effects from genomewide scans
    • Göring, H.H., Terwilliger, J.D. and Blangero, J. (2001) Large upward bias in estimation of locus-specific effects from genomewide scans. Am. J. Hum. Genet., 69, 1357-1369.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1357-1369
    • Göring, H.H.1    Terwilliger, J.D.2    Blangero, J.3
  • 25
    • 75649147432 scopus 로고    scopus 로고
    • Correcting 'winner's curse' in odds ratios from genomewide association findings for major complex human diseases
    • Zhong, H. and Prentice, R.L. (2010) Correcting 'winner's curse' in odds ratios from genomewide association findings for major complex human diseases. Genet. Epidemiol., 34, 78-91.
    • (2010) Genet. Epidemiol. , vol.34 , pp. 78-91
    • Zhong, H.1    Prentice, R.L.2
  • 26
    • 17644422198 scopus 로고    scopus 로고
    • Reduction of selection bias in genomewide studies by resampling
    • Sun, L. and Bull, S.B. (2005) Reduction of selection bias in genomewide studies by resampling. Genet. Epidemiol., 28, 352-367.
    • (2005) Genet. Epidemiol. , vol.28 , pp. 352-367
    • Sun, L.1    Bull, S.B.2
  • 31
    • 68949155458 scopus 로고    scopus 로고
    • Phospholipase D signalling and its involvement in neurite outgrowth
    • Kanaho, Y., Funakoshi, Y. and Hasegawa, H. (2009) Phospholipase D signalling and its involvement in neurite outgrowth. Biochim. Biophys. Acta, 1791, 898-904.
    • (2009) Biochim. Biophys. Acta. , vol.1791 , pp. 898-904
    • Kanaho, Y.1    Funakoshi, Y.2    Hasegawa, H.3
  • 32
    • 33646812582 scopus 로고    scopus 로고
    • Regulation of metabotropic glutamate receptor signaling, desensitization and endocytosis
    • Dhami, G.K. and Ferguson, S.S. (2006) Regulation of metabotropic glutamate receptor signaling, desensitization and endocytosis. Pharmacol. Ther., 111, 260-271.
    • (2006) Pharmacol. Ther. , vol.111 , pp. 260-271
    • Dhami, G.K.1    Ferguson, S.S.2
  • 33
    • 23344432218 scopus 로고    scopus 로고
    • PTEN represses RNA Polymerase I transcription by disrupting the SL1 complex
    • Zhang, C., Comai, L. and Johnson, D.L. (2005) PTEN represses RNA Polymerase I transcription by disrupting the SL1 complex. Mol. Cell Biol., 25, 6899-6911.
    • (2005) Mol. Cell Biol. , vol.25 , pp. 6899-6911
    • Zhang, C.1    Comai, L.2    Johnson, D.L.3
  • 37
    • 33847342035 scopus 로고    scopus 로고
    • Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    • Herman, G.E., Butter, E., Enrile, B., Pastore, M., Prior, T.W. and Sommer, A. (2007) Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. Am. J. Med. Genet. A, 143, 589-593.
    • (2007) Am. J. Med. Genet. A , vol.143 , pp. 589-593
    • Herman, G.E.1    Butter, E.2    Enrile, B.3    Pastore, M.4    Prior, T.W.5    Sommer, A.6
  • 38
    • 58849124268 scopus 로고    scopus 로고
    • Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
    • Orrico, A., Galli, L., Buoni, S., Orsi, A., Vonella, G. and Sorrentino, V. (2009) Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. Clin. Genet., 75, 195-198.
    • (2009) Clin. Genet. , vol.75 , pp. 195-198
    • Orrico, A.1    Galli, L.2    Buoni, S.3    Orsi, A.4    Vonella, G.5    Sorrentino, V.6
  • 39
    • 62149104335 scopus 로고    scopus 로고
    • The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    • Varga, E.A., Pastore, M., Prior, T., Herman, G.E. and McBride, K.L. (2009) The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med., 11, 111-117.
    • (2009) Genet Med. , vol.11 , pp. 111-117
    • Varga, E.A.1    Pastore, M.2    Prior, T.3    Herman, G.E.4    McBride, K.L.5
  • 40
  • 41
    • 77951294515 scopus 로고    scopus 로고
    • Divergent impact of the polysialyltransferases ST8SiaII and ST8SiaIV on polysialic acid expression in immature neurons and interneurons of the adult cerebral cortex
    • Nacher, J., Guirado, R., Varea, E., Alonso-Llosa, G., Röckle, I. and Hildebrandt, H. (2010) Divergent impact of the polysialyltransferases ST8SiaII and ST8SiaIV on polysialic acid expression in immature neurons and interneurons of the adult cerebral cortex. Neuroscience, 167, 825-837.
    • (2010) Neuroscience , vol.167 , pp. 825-837
    • Nacher, J.1    Guirado, R.2    Varea, E.3    Alonso-Llosa, G.4    Röckle, I.5    Hildebrandt, H.6
  • 42
    • 47849103776 scopus 로고    scopus 로고
    • Learning-associated regulation of polysialylated neural cell adhesion molecule expression in the rat prefrontal cortex is region-, cell type-and paradigm-specific
    • Ter Horst, J.P., Loscher, J.S., Pickering, M., Regan, C.M. and Murphy, K.J. (2008) Learning-associated regulation of polysialylated neural cell adhesion molecule expression in the rat prefrontal cortex is region-, cell type-and paradigm-specific. Eur. J. Neurosci., 28, 419-427.
    • (2008) Eur. J. Neurosci. , vol.28 , pp. 419-427
    • Ter Horst, J.P.1    Loscher, J.S.2    Pickering, M.3    Regan, C.M.4    Murphy, K.J.5
  • 43
  • 44
    • 33846573706 scopus 로고    scopus 로고
    • Positive association between SIAT8B and schizophrenia in the Chinese Han population
    • Tao, R., Li, C., Zheng, Y., Qin, W., Zhang, J., Li, X., Xu, Y., Shi, Y.Y., Feng, G. and He, L. (2007) Positive association between SIAT8B and schizophrenia in the Chinese Han population. Schizophr. Res., 90, 108-114.
    • (2007) Schizophr. Res. , vol.90 , pp. 108-114
    • Tao, R.1    Li, C.2    Zheng, Y.3    Qin, W.4    Zhang, J.5    Li, X.6    Xu, Y.7    Shi, Y.Y.8    Feng, G.9    He, L.10
  • 46
    • 0034916325 scopus 로고    scopus 로고
    • The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions
    • AGRE Steering Committee
    • Geschwind, D.H., Sowinski, J., Lord, C., Iversen, P., Shestack, J., Jones, P., Ducat, L. and Spence, S.J. AGRE Steering Committee (2001) The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am. J. Hum. Genet., 69, 463-466.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 463-466
    • Geschwind, D.H.1    Sowinski, J.2    Lord, C.3    Iversen, P.4    Shestack, J.5    Jones, P.6    Ducat, L.7    Spence, S.J.8
  • 47
    • 62649155943 scopus 로고    scopus 로고
    • A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
    • Browning, B.L. and Browning, S.R. (2009) A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet, 84, 210-223.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 210-223
    • Browning, B.L.1    Browning, S.R.2
  • 48
    • 75649145930 scopus 로고    scopus 로고
    • Discovering genetic ancestry using spectral graph theory
    • Lee, A.B., Luca, D., Klei, L., Devlin, B. and Roeder, K. (2010) Discovering genetic ancestry using spectral graph theory. Genet. Epidemiol., 34, 51-59.
    • (2010) Genet. Epidemiol. , vol.34 , pp. 51-59
    • Lee, A.B.1    Luca, D.2    Klei, L.3    Devlin, B.4    Roeder, K.5
  • 49
    • 77957736563 scopus 로고    scopus 로고
    • Using ancestry matching to combine family-based and unrelated samples for genome-wide association studies
    • (in press)
    • Crossett, A., Kent, B.P., Klei, L., Ringquist, R., Trucco, M., Roeder, K. and Devlin, B. (2010) Using ancestry matching to combine family-based and unrelated samples for genome-wide association studies. Statist. Med. (in press).
    • (2010) Statist. Med.
    • Crossett, A.1    Kent, B.P.2    Klei, L.3    Ringquist, R.4    Trucco, M.5    Roeder, K.6    Devlin, B.7
  • 50
    • 1842483890 scopus 로고    scopus 로고
    • Case/pseudocontrol analysis in genetic association studies: a unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects
    • Cordell, H.J., Barratt, B.J. and Clayton, D.G. (2004) Case/pseudocontrol analysis in genetic association studies: a unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects. Genet. Epidemiol., 26, 167-185.
    • (2004) Genet. Epidemiol. , vol.26 , pp. 167-185
    • Cordell, H.J.1    Barratt, B.J.2    Clayton, D.G.3
  • 51
    • 50849106386 scopus 로고    scopus 로고
    • Genome-wide linkage analyses of quantitative and categorical autism subphenotypes
    • Autism Genome Project Consortium
    • Liu, X.Q., Paterson, A.D. and Szatmari, P. Autism Genome Project Consortium (2008) Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol. Psychiatry, 64, 561-570.
    • (2008) Biol. Psychiatry. , vol.64 , pp. 561-570
    • Liu, X.Q.1    Paterson, A.D.2    Szatmari, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.