메뉴 건너뛰기




Volumn 26, Issue 6, 2014, Pages 646-652

Copy number variations and human genetic disease

Author keywords

Array comparative genomic hybridization; Chromosomal microarray; Copy number variation; Microdeletion; Microduplication; Segmental duplications

Indexed keywords

COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DISEASE ASSOCIATION; DNA POLYMORPHISM; DNA REPLICATION; DNA SYNTHESIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; MUTATION RATE; NORMAL HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEGMENTAL DUPLICATION; GENETICS; HUMAN GENOME; MEDICAL GENETICS; PROCEDURES;

EID: 84921890577     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0000000000000142     Document Type: Review
Times cited : (39)

References (62)
  • 1
    • 34347349069 scopus 로고    scopus 로고
    • Genomic rearrangements and sporadic disease
    • Lupski JR. Genomic rearrangements and sporadic disease. Nat Genet 2007; 39: S43-S47.
    • (2007) Nat Genet , vol.39 , pp. S43-S47
    • Lupski, J.R.1
  • 2
    • 84884413307 scopus 로고    scopus 로고
    • Properties and rates of germline mutations in humans
    • Campbell CD, Eichler EE. Properties and rates of germline mutations in humans. Trends Genet 2013; 29: 575-584.
    • (2013) Trends Genet , vol.29 , pp. 575-584
    • Campbell, C.D.1    Eichler, E.E.2
  • 3
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207-211.
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3
  • 4
    • 52949093111 scopus 로고    scopus 로고
    • Systematic assessment of copy number variant detection via genome-wide SNP genotyping
    • Cooper GM, Zerr T, Kidd JM, et al. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 2008; 40: 1199-1203.
    • (2008) Nat Genet , vol.40 , pp. 1199-1203
    • Cooper, G.M.1    Zerr, T.2    Kidd, J.M.3
  • 5
    • 52949141845 scopus 로고    scopus 로고
    • Integrated detection and population-genetic analysis of SNPs and copy number variation
    • McCarroll SA, Kuruvilla FG, Korn JM, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008; 40: 1166-1174.
    • (2008) Nat Genet , vol.40 , pp. 1166-1174
    • McCarroll, S.A.1    Kuruvilla, F.G.2    Korn, J.M.3
  • 6
    • 78049412267 scopus 로고    scopus 로고
    • Diversity of human copy number variation and multicopy genes
    • Sudmant PH, Kitzman JO, Antonacci F, et al. Diversity of human copy number variation and multicopy genes. Science 2010; 330: 641-646.
    • (2010) Science , vol.330 , pp. 641-646
    • Sudmant, P.H.1    Kitzman, J.O.2    Antonacci, F.3
  • 7
    • 62549134411 scopus 로고    scopus 로고
    • Mechanisms for human genomic rearrangements
    • Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics 2008; 1: 4.
    • (2008) Pathogenetics , vol.1 , pp. 4
    • Gu, W.1    Zhang, F.2    Lupski, J.R.3
  • 8
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: Organization and impact within the current human genome project assembly
    • Bailey JA, Yavor AM, Massa HF, et al. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 2001; 11: 1005-1017.
    • (2001) Genome Res , vol.11 , pp. 1005-1017
    • Bailey, J.A.1    Yavor, A.M.2    Massa, H.F.3
  • 9
    • 4544362838 scopus 로고    scopus 로고
    • The mechanism of nonhomologous end-joining: A synopsis of synapsis
    • Weterings E, van Gent DC. The mechanism of nonhomologous end-joining: a synopsis of synapsis. DNA Repair (Amst) 2004; 3: 1425-1435.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1425-1435
    • Weterings, E.1    Van Gent, D.C.2
  • 10
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007; 131: 1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 11
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang F, Khajavi M, Connolly AM, et al. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 2009; 41: 849-853.
    • (2009) Nat Genet , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3
  • 12
    • 0026849499 scopus 로고
    • Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
    • Lupski JR, Wise CA, Kuwano A, et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1: 29-33.
    • (1992) Nat Genet , vol.1 , pp. 29-33
    • Lupski, J.R.1    Wise, C.A.2    Kuwano, A.3
  • 13
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan DA, vanHeyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005; 76: 8-32.
    • (2005) Am J Hum Genet , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    Vanheyningen, V.2
  • 14
    • 32044441668 scopus 로고    scopus 로고
    • Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect
    • Lee JA, Madrid RE, Sperle K, et al. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol 2006; 59: 398-403.
    • (2006) Ann Neurol , vol.59 , pp. 398-403
    • Lee, J.A.1    Madrid, R.E.2    Sperle, K.3
  • 15
    • 34447291845 scopus 로고    scopus 로고
    • Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1)
    • Smyk M, Berg JS, Pursley A, et al. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet 2007; 122: 63-70.
    • (2007) Hum Genet , vol.122 , pp. 63-70
    • Smyk, M.1    Berg, J.S.2    Pursley, A.3
  • 16
    • 64149103056 scopus 로고    scopus 로고
    • Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
    • Dathe K, Kjaer KW, Brehm A, et al. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet 2009; 84: 483-492.
    • (2009) Am J Hum Genet , vol.84 , pp. 483-492
    • Dathe, K.1    Kjaer, K.W.2    Brehm, A.3
  • 17
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med 2010; 61: 437-455.
    • (2010) Annu Rev Med , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 18
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005; 1: e49.
    • (2005) PLoS Genet , vol.1 , pp. e49
    • Lupski, J.R.1    Stankiewicz, P.2
  • 19
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-161.
    • (2009) Am J Hum Genet , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3
  • 20
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
    • Shaikh TH, Gai X, Perin JC, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3
  • 21
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 22
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 23
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Professional Practice and Guidelines Committee
    • Manning M, Hudgins L. Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010; 12: 742-745.
    • (2010) Genet Med , vol.12 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 24
    • 43049100493 scopus 로고    scopus 로고
    • Copy number variation at the 7q11, 23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
    • Cuscó I, Corominas R, Bayés M, et al. Copy number variation at the 7q11. 23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res 2008; 18: 683-694.
    • (2008) Genome Res , vol.18 , pp. 683-694
    • Cuscó, I.1    Corominas, R.2    Bayés, M.3
  • 25
    • 0035179436 scopus 로고    scopus 로고
    • A 1. 5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
    • Osborne LR, Li M, Pober B, et al. A 1. 5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001; 29: 321-325.
    • (2001) Nat Genet , Issue.29 , pp. 321-325
    • Osborne, L.R.1    Li, M.2    Pober, B.3
  • 26
    • 0035071955 scopus 로고    scopus 로고
    • Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
    • Giglio S, Broman KW, Matsumoto N, et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001; 68: 874-883.
    • (2001) Am J Hum Genet , vol.68 , pp. 874-883
    • Giglio, S.1    Broman, K.W.2    Matsumoto, N.3
  • 27
    • 0037447443 scopus 로고    scopus 로고
    • Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
    • Gimelli G, Pujana MA, Patricelli MG, et al. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet 2003; 12: 849-858.
    • (2003) Hum Mol Genet , vol.12 , pp. 849-858
    • Gimelli, G.1    Pujana, M.A.2    Patricelli, M.G.3
  • 28
    • 67649834757 scopus 로고    scopus 로고
    • Characterization of six human disease-associated inversion polymorphisms
    • Antonacci F, Kidd JM, Marques-Bonet T, et al. Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet 2009; 18: 2555-2566.
    • (2009) Hum Mol Genet , vol.18 , pp. 2555-2566
    • Antonacci, F.1    Kidd, J.M.2    Marques-Bonet, T.3
  • 29
    • 13944278863 scopus 로고    scopus 로고
    • A common inversion under selection in Europeans
    • Stefansson H, Helgason A, Thorleifsson G, et al. A common inversion under selection in Europeans. Nat Genet 2005; 37: 129-137.
    • (2005) Nat Genet , vol.37 , pp. 129-137
    • Stefansson, H.1    Helgason, A.2    Thorleifsson, G.3
  • 30
    • 50449104624 scopus 로고    scopus 로고
    • Evolutionary toggling of the MAPT 17q21, 31 inversion region
    • Zody MC, Jiang Z, Fung HC, et al. Evolutionary toggling of the MAPT 17q21. 31 inversion region. Nat Genet 2008; 40: 1076-1083.
    • (2008) Nat Genet , vol.40 , pp. 1076-1083
    • Zody, M.C.1    Jiang, Z.2    Fung, H.C.3
  • 31
    • 33748323156 scopus 로고    scopus 로고
    • A new chromosome 17q21, 31 microdeletion syndrome associated with a common inversion polymorphism
    • Koolen DA, Vissers LE, Pfundt R, et al. A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006; 38: 999-1001.
    • (2006) Nat Genet , vol.38 , pp. 999-1001
    • Koolen, D.A.1    Vissers, L.E.2    Pfundt, R.3
  • 32
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd JM, Cooper GM, Donahue WF, et al. Mapping and sequencing of structural variation from eight human genomes. Nature 2008; 453: 56-64.
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3
  • 33
    • 77956645877 scopus 로고    scopus 로고
    • A large and complex structural polymorphism at 16p12, 1 underlies microdeletion disease risk
    • Antonacci F, Kidd JM, Marques-Bonet T, et al. A large and complex structural polymorphism at 16p12. 1 underlies microdeletion disease risk. Nat Genet 2010; 42: 745-750.
    • (2010) Nat Genet , vol.42 , pp. 745-750
    • Antonacci, F.1    Kidd, J.M.2    Marques-Bonet, T.3
  • 34
    • 78650808443 scopus 로고    scopus 로고
    • Phenotypic variability and genetic susceptibility to genomic disorders
    • Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 2010; 19: R176-R187.
    • (2010) Hum Mol Genet , vol.19 , pp. R176-R187
    • Girirajan, S.1    Eichler, E.E.2
  • 35
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43: 838-846.
    • (2011) Nat Genet , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 36
    • 80052588672 scopus 로고    scopus 로고
    • An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
    • Kaminsky EB, Kaul V, Paschall J, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 2011; 13: 777-784.
    • (2011) Genet Med , vol.13 , pp. 777-784
    • Kaminsky, E.B.1    Kaul, V.2    Paschall, J.3
  • 37
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12, 1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S, Rosenfeld JA, Cooper GM, et al. A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-209.
    • (2010) Nat Genet , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3
  • 38
    • 84892620880 scopus 로고    scopus 로고
    • CNVs conferring risk of autism or schizophrenia affect cognition in controls
    • Stefansson H, Meyer-Lindenberg A, Steinberg S, et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 2014; 505: 361-366.
    • (2014) Nature , vol.505 , pp. 361-366
    • Stefansson, H.1    Meyer-Lindenberg, A.2    Steinberg, S.3
  • 39
    • 51449110312 scopus 로고    scopus 로고
    • Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases
    • Shao L, Shaw CA, Lu XY, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A 2008; 146A: 2242-2251.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2242-2251
    • Shao, L.1    Shaw, C.A.2    Lu, X.Y.3
  • 40
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82: 477-488.
    • (2008) Am J Hum Genet , vol.82 , pp. 477-488
    • Marshall, C.R.1    Noor, A.2    Vincent, J.B.3
  • 41
    • 69249091299 scopus 로고    scopus 로고
    • Neurexin 1 (NRXN1) deletions in schizophrenia
    • Kirov G, Rujescu D, Ingason A, et al. Neurexin 1 (NRXN1) deletions in schizophrenia. Schizophr Bull 2009; 35: 851-854.
    • (2009) Schizophr Bull , vol.35 , pp. 851-854
    • Kirov, G.1    Rujescu, D.2    Ingason, A.3
  • 42
    • 53049109352 scopus 로고    scopus 로고
    • Recurrent CNVs disrupt three candidate genes in schizophrenia patients
    • Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 2008; 83: 504-510.
    • (2008) Am J Hum Genet , vol.83 , pp. 504-510
    • Vrijenhoek, T.1    Buizer-Voskamp, J.E.2    Van Der Stelt, I.3
  • 43
    • 84899918742 scopus 로고    scopus 로고
    • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
    • Pinto D, Delaby E, Merico D, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014; 94: 677-694.
    • (2014) Am J Hum Genet , vol.94 , pp. 677-694
    • Pinto, D.1    Delaby, E.2    Merico, D.3
  • 44
    • 84893708713 scopus 로고    scopus 로고
    • A de novo convergence of autism genetics and molecular neuroscience
    • Krumm N, O'Roak BJ, Shendure J, et al. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci 2014; 37: 95-105.
    • (2014) Trends Neurosci , vol.37 , pp. 95-105
    • Krumm, N.1    O'roak, B.J.2    Shendure, J.3
  • 45
    • 81755183108 scopus 로고    scopus 로고
    • Relative burden of large CNVs on a range of neurodevelopmental phenotypes
    • Girirajan S, Brkanac Z, Coe BP, et al. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011; 7: e1002334.
    • (2011) PLoS Genet , vol.7 , pp. e1002334
    • Girirajan, S.1    Brkanac, Z.2    Coe, B.P.3
  • 46
    • 84155191464 scopus 로고    scopus 로고
    • De novo CNVs in bipolar disorder: Recurrent themes or new directions?
    • Girirajan S, Eichler EE. De novo CNVs in bipolar disorder: recurrent themes or new directions? Neuron 2011; 72: 885-887.
    • (2011) Neuron , vol.72 , pp. 885-887
    • Girirajan, S.1    Eichler, E.E.2
  • 48
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • Bailey JA, Gu Z, Clark RA, et al. Recent segmental duplications in the human genome. Science 2002; 297: 1003-1007.
    • (2002) Science , vol.297 , pp. 1003-1007
    • Bailey, J.A.1    Gu, Z.2    Clark, R.A.3
  • 49
    • 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, et al. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 2006; 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
  • 50
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 51
    • 20544462642 scopus 로고    scopus 로고
    • Segmental duplications and copy-number variation in the human genome
    • Sharp AJ, Locke DP, McGrath SD, et al. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005; 77: 78-88.
    • (2005) Am J Hum Genet , vol.77 , pp. 78-88
    • Sharp, A.J.1    Locke, D.P.2    McGrath, S.D.3
  • 52
    • 70350482745 scopus 로고    scopus 로고
    • CCL3L1 and HIV/AIDS susceptibility
    • Bhattacharya T, Stanton J, Kim EY, et al. CCL3L1 and HIV/AIDS susceptibility. Nat Med 2009; 15: 1112-1115.
    • (2009) Nat Med , vol.15 , pp. 1112-1115
    • Bhattacharya, T.1    Stanton, J.2    Kim, E.Y.3
  • 53
    • 70350455320 scopus 로고    scopus 로고
    • Experimental aspects of copy number variant assays at CCL3L1
    • Field SF, Howson JM, Maier LM, et al. Experimental aspects of copy number variant assays at CCL3L1. Nat Med 2009; 15: 1115-1117.
    • (2009) Nat Med , vol.15 , pp. 1115-1117
    • Field, S.F.1    Howson, J.M.2    Maier, L.M.3
  • 54
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 genecontaining segmental duplications on HIV-1/AIDS susceptibility
    • Gonzalez E, Kulkarni H, Bolivar H, et al. The influence of CCL3L1 genecontaining segmental duplications on HIV-1/AIDS susceptibility. Science 2005; 307: 1434-1440.
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1    Kulkarni, H.2    Bolivar, H.3
  • 55
    • 34247623286 scopus 로고    scopus 로고
    • Population stratification of a common APOBEC gene deletion polymorphism
    • Kidd JM, Newman TL, Tuzun E, et al. Population stratification of a common APOBEC gene deletion polymorphism. PLoS Genet 2007; 3: e63.
    • (2007) PLoS Genet , vol.3 , pp. e63
    • Kidd, J.M.1    Newman, T.L.2    Tuzun, E.3
  • 56
    • 79952474641 scopus 로고    scopus 로고
    • Population-genetic properties of differentiated human copy-number polymorphisms
    • Campbell CD, Sampas N, Tsalenko A, et al. Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet 2011; 88: 317-332.
    • (2011) Am J Hum Genet , vol.88 , pp. 317-332
    • Campbell, C.D.1    Sampas, N.2    Tsalenko, A.3
  • 57
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010; 464: 713-720.
    • (2010) Nature , vol.464 , pp. 713-720
  • 58
    • 33748558056 scopus 로고    scopus 로고
    • A chromosome 8 genecluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
    • Fellermann K, Stange DE, Schaeffeler E, et al. A chromosome 8 genecluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006; 79: 439-448.
    • (2006) Am J Hum Genet , vol.79 , pp. 439-448
    • Fellermann, K.1    Stange, D.E.2    Schaeffeler, E.3
  • 59
    • 37549033125 scopus 로고    scopus 로고
    • Psoriasis is associated with increased beta-defensin genomic copy number
    • Hollox EJ, Huffmeier U, Zeeuwen PL, et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008; 40: 3-25.
    • (2008) Nat Genet , vol.40 , pp. 3-25
    • Hollox, E.J.1    Huffmeier, U.2    Zeeuwen, P.L.3
  • 60
    • 34249815834 scopus 로고    scopus 로고
    • FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
    • Fanciulli M, Norsworthy PJ, Petretto E, et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007; 39: 721-723.
    • (2007) Nat Genet , vol.39 , pp. 721-723
    • Fanciulli, M.1    Norsworthy, P.J.2    Petretto, E.3
  • 61
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkötter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002; 70: 358-368.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkötter, M.1    Schwarzer, V.2    Wirth, R.3
  • 62
    • 0036368287 scopus 로고    scopus 로고
    • Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    • Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002; 4: 20-26.
    • (2002) Genet Med , vol.4 , pp. 20-26
    • Mailman, M.D.1    Heinz, J.W.2    Papp, A.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.