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Volumn 79, Issue 5, 2011, Pages 427-428

De novo paradigm: The ultimate answer to the paradox in mental retardation?

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RAB39B; RAB PROTEIN; UNCLASSIFIED DRUG;

EID: 79953742751     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01630.x     Document Type: Note
Times cited : (3)

References (21)
  • 1
    • 0036948248 scopus 로고    scopus 로고
    • The epidemiology of mental retardation: challenges and opportunities in the new millennium.
    • Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002: 8: 117-134.
    • (2002) Ment Retard Dev Disabil Res Rev , vol.8 , pp. 117-134
    • Leonard, H.1    Wen, X.2
  • 2
    • 33845516667 scopus 로고    scopus 로고
    • Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?
    • Discussion.
    • Keller MC, Miller G. Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best? Behav Brain Sci 2006: 29: 385-404 (Discussion).
    • (2006) Behav Brain Sci , vol.29 , pp. 385-404
    • Keller, M.C.1    Miller, G.2
  • 3
    • 40149111451 scopus 로고    scopus 로고
    • What can genome-wide association studies tell us about the genetics of common disease?
    • Iles MM. What can genome-wide association studies tell us about the genetics of common disease? PLoS Genet 2008: 4: e33.
    • (2008) PLoS Genet , vol.4
    • Iles, M.M.1
  • 4
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    • Wellcome Trust Case Control Consortium.
    • Wellcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 2007: 447: 661-678.
    • (2007) Nature , vol.447 , pp. 661-678
  • 5
    • 77952886906 scopus 로고    scopus 로고
    • Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts.
    • Muglia P, Tozzi F, Galwey NW et al. Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts. Mol Psychiatry 2010: 15: 589-601.
    • (2010) Mol Psychiatry , vol.15 , pp. 589-601
    • Muglia, P.1    Tozzi, F.2    Galwey, N.W.3
  • 6
    • 50449100461 scopus 로고    scopus 로고
    • Identification of loci associated with schizophrenia by genome-wide association and follow-up.
    • O'Donovan MC, Craddock N, Norton N et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 2008: 40: 1053-1055.
    • (2008) Nat Genet , vol.40 , pp. 1053-1055
    • O'Donovan, M.C.1    Craddock, N.2    Norton, N.3
  • 7
    • 70450224887 scopus 로고    scopus 로고
    • The role of genetic variation in the causation of mental illness: an evolution-informed framework.
    • Uher R. The role of genetic variation in the causation of mental illness: an evolution-informed framework. Mol Psychiatry 2009: 14: 1072-1082.
    • (2009) Mol Psychiatry , vol.14 , pp. 1072-1082
    • Uher, R.1
  • 8
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions.
    • Cook EH Jr., Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature 2008: 455: 919-923.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook Jr, E.H.1    Scherer, S.W.2
  • 9
    • 33645798271 scopus 로고    scopus 로고
    • Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
    • Lugtenberg D, de Brouwer AP, Kleefstra T et al. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 2006: 43: 362-370.
    • (2006) J Med Genet , vol.43 , pp. 362-370
    • Lugtenberg, D.1    de Brouwer, A.P.2    Kleefstra, T.3
  • 10
    • 25444432040 scopus 로고    scopus 로고
    • Diagnostic genome profiling in mental retardation.
    • de Vries BB, Pfundt R, Leisink M et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005: 77: 606-616.
    • (2005) Am J Hum Genet , vol.77 , pp. 606-616
    • de Vries, B.B.1    Pfundt, R.2    Leisink, M.3
  • 11
    • 78649460246 scopus 로고    scopus 로고
    • New mutations and intellectual function.
    • Lupski JR. New mutations and intellectual function. Nat Genet 2010: 42: 1036-1038.
    • (2010) Nat Genet , vol.42 , pp. 1036-1038
    • Lupski, J.R.1
  • 12
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    • Roach JC, Glusman G, Smit AF et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010: 328: 636-639.
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3
  • 13
    • 75749103383 scopus 로고    scopus 로고
    • Rate, molecular spectrum, and consequences of human mutation.
    • Lynch M. Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci U S A 2010: 107: 961-968.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 961-968
    • Lynch, M.1
  • 14
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder.
    • Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010: 42: 30-35.
    • (2010) Nat Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 15
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes.
    • Ng SB, Turner EH, Robertson PD et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009: 461: 272-276.
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 16
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
    • Choi M, Scholl UI, Ji W et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009: 106: 19096-19101.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 19096-19101
    • Choi, M.1    Scholl, U.I.2    Ji, W.3
  • 17
    • 36549021060 scopus 로고    scopus 로고
    • Genome-wide in situ exon capture for selective resequencing.
    • Hodges E, Xuan Z, Balija V et al. Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007: 39: 1522-1527.
    • (2007) Nat Genet , vol.39 , pp. 1522-1527
    • Hodges, E.1    Xuan, Z.2    Balija, V.3
  • 18
    • 76249116225 scopus 로고    scopus 로고
    • Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
    • Giannandrea M, Bianchi V, Mignogna ML et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet 2010: 86: 185-195.
    • (2010) Am J Hum Genet , vol.86 , pp. 185-195
    • Giannandrea, M.1    Bianchi, V.2    Mignogna, M.L.3
  • 19
    • 59749085381 scopus 로고    scopus 로고
    • Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
    • Hamdan FF, Gauthier J, Spiegelman D et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med 2009: 360: 599-605.
    • (2009) N Engl J Med , vol.360 , pp. 599-605
    • Hamdan, F.F.1    Gauthier, J.2    Spiegelman, D.3
  • 20
    • 19944430270 scopus 로고    scopus 로고
    • Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
    • Jensen LR, Amende M, Gurok U et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2005: 76: 227-236.
    • (2005) Am J Hum Genet , vol.76 , pp. 227-236
    • Jensen, L.R.1    Amende, M.2    Gurok, U.3
  • 21
    • 78649484216 scopus 로고    scopus 로고
    • A de novo paradigm for mental retardation.
    • Vissers LE, de Ligt J, Gilissen C et al. A de novo paradigm for mental retardation. Nat Genet 2010: 42: 1109-1112.
    • (2010) Nat Genet , vol.42 , pp. 1109-1112
    • Vissers, L.E.1    de Ligt, J.2    Gilissen, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.