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Volumn 15, Issue 4, 2013, Pages 282-283

1q21.1 Microduplication expression in adults

Author keywords

1q21.1 duplication; copy number variation; macrocephaly; schizophrenia; tetralogy of Fallot

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BIPOLAR DISORDER; CARPAL TUNNEL SYNDROME; CATARACT; CHOLELITHIASIS; CHROMOSOME 1Q; CHROMOSOME DUPLICATION; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DEEP VEIN THROMBOSIS; DEPRESSION; DEVELOPMENTAL DISORDER; FALLOT TETRALOGY; GENE EXPRESSION; HEAD CIRCUMFERENCE; HEART DISEASE; HEART SINGLE VENTRICLE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERCHOLESTEROLEMIA; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; NON INSULIN DEPENDENT DIABETES MELLITUS; SCHIZOPHRENIA; SEX RATIO; SYSTEMATIC REVIEW;

EID: 84875933554     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.129     Document Type: Article
Times cited : (78)

References (40)
  • 1
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008;40:1466-1471.
    • (2008) Nat Genet , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3
  • 2
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359:1685-1699.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 3
    • 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
  • 4
    • 80052971350 scopus 로고    scopus 로고
    • On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local dna sequence environment in mediating gene mutations underlying human inherited disease
    • Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 2011;32:1075-1099.
    • (2011) Hum Mutat , vol.32 , pp. 1075-1099
    • Cooper, D.N.1    Bacolla, A.2    Férec, C.3    Vasquez, K.M.4    Kehrer-Sawatzki, H.5    Chen, J.M.6
  • 5
    • 84858257118 scopus 로고    scopus 로고
    • Phenotype-specific effect of chromosome 1q21.1 rearrangements and gja5 duplications in 2436 congenital heart disease patients and 6760 controls
    • Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 2012;21:1513-1520.
    • (2012) Hum Mol Genet , vol.21 , pp. 1513-1520
    • Soemedi, R.1    Topf, A.2    Wilson, I.J.3
  • 6
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium.
    • International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455:237-241.
    • (2008) Nature , vol.455 , pp. 237-241
  • 7
    • 79961105991 scopus 로고    scopus 로고
    • Understanding the impact of 1q21.1 copy number variant
    • Harvard C, Strong E, Mercier E, et al. Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis 2011;6:54.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 54
    • Harvard, C.1    Strong, E.2    Mercier, E.3
  • 8
    • 78650658745 scopus 로고    scopus 로고
    • Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (cakut) by array-based comparative genomic hybridization
    • Weber S, Landwehr C, Renkert M, et al. Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization. Nephrol Dial Transplant 2011;26:136-143.
    • (2011) Nephrol Dial Transplant , vol.26 , pp. 136-143
    • Weber, S.1    Landwehr, C.2    Renkert, M.3
  • 9
    • 79952710338 scopus 로고    scopus 로고
    • Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
    • Levinson DF, Duan J, Oh S, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011;168:302-316.
    • (2011) Am J Psychiatry , vol.168 , pp. 302-316
    • Levinson, D.F.1    Duan, J.2    Oh, S.3
  • 10
    • 68149181705 scopus 로고    scopus 로고
    • De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
    • Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009;41:931-935.
    • (2009) Nat Genet , vol.41 , pp. 931-935
    • Greenway, S.C.1    Pereira, A.C.2    Lin, J.C.3
  • 11
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010;466:368-372.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3
  • 12
    • 74549171440 scopus 로고    scopus 로고
    • BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
    • Brunet A, Armengol L, Heine D, et al. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet 2009;10:144.
    • (2009) BMC Med Genet , vol.10 , pp. 144
    • Brunet, A.1    Armengol, L.2    Heine, D.3
  • 13
    • 70449629672 scopus 로고    scopus 로고
    • Autism genetics: Emerging data from genome-wide copy-number and single nucleotide polymorphism scans
    • Weiss LA. Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans. Expert Rev Mol Diagn 2009;9:795-803.
    • (2009) Expert Rev Mol Diagn , vol.9 , pp. 795-803
    • Weiss, L.A.1
  • 14
    • 77955379566 scopus 로고    scopus 로고
    • Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease
    • Bassett AS, Scherer SW, Brzustowicz LM. Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 2010;167:899-914.
    • (2010) Am J Psychiatry , vol.167 , pp. 899-914
    • Bassett, A.S.1    Scherer, S.W.2    Brzustowicz, L.M.3
  • 15
    • 77953693575 scopus 로고    scopus 로고
    • Genomic microarrays in mental retardation: From copy number variation to gene, from research to diagnosis
    • Vissers LE, de Vries BB, Veltman JA. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet 2010;47:289-297.
    • (2010) J Med Genet , vol.47 , pp. 289-297
    • Vissers, L.E.1    De Vries, B.B.2    Veltman, J.A.3
  • 16
    • 83555162604 scopus 로고    scopus 로고
    • Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects
    • Breckpot J, Thienpont B, Arens Y, et al. Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. Cytogenet Genome Res 2011;135:251-259.
    • (2011) Cytogenet Genome Res , vol.135 , pp. 251-259
    • Breckpot, J.1    Thienpont, B.2    Arens, Y.3
  • 17
    • 64549147485 scopus 로고    scopus 로고
    • Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
    • Kirov G, Grozeva D, Norton N, et al.; International Schizophrenia Consortium; Wellcome Trust Case Control Consortium. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 2009;18:1497-1503.
    • (2009) Hum Mol Genet , vol.18 , pp. 1497-1503
    • Kirov, G.1    Grozeva, D.2    Norton, N.3
  • 18
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia
    • Stefansson H, Rujescu D, Cichon S, et al.; GROUP. Large recurrent microdeletions associated with schizophrenia. Nature 2008;455:232-236.
    • (2008) Nature , vol.455 , pp. 232-236
    • Stefansson, H.1    Rujescu, D.2    Cichon, S.3
  • 19
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P, Paterson AD, Zwaigenbaum L, et al.; Autism Genome Project Consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319-328.
    • (2007) Nat Genet , vol.39 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3
  • 20
    • 77950629979 scopus 로고    scopus 로고
    • Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects
    • 817e1
    • Breckpot J, Thienpont B, Peeters H, et al. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr 2010;156:810-7, 817.e1.
    • (2010) J Pediatr , vol.156 , pp. 810-817
    • Breckpot, J.1    Thienpont, B.2    Peeters, H.3
  • 21
    • 35448992970 scopus 로고    scopus 로고
    • Germ-line DNA copy number variation frequencies in a large North American population
    • Zogopoulos G, Ha KC, Naqib F, et al. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 2007;122: 345-353.
    • (2007) Hum Genet , vol.122 , pp. 345-353
    • Zogopoulos, G.1    Ha, K.C.2    Naqib, F.3
  • 22
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo cnvs including duplications of the 7q11.23 williams syndrome region are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011;70:863-885.
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3
  • 23
    • 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
  • 24
    • 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
  • 25
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer LG, Kashork CD, Saleki R, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006;149:98-102.
    • (2006) J Pediatr , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3
  • 26
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss LA, Shen Y, Korn JM, et al.; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-675.
    • (2008) N Engl J Med , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3
  • 27
    • 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
  • 28
    • 67651233780 scopus 로고    scopus 로고
    • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    • Bucan M, Abrahams BS, Wang K, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009;5:e1000536.
    • (2009) PLoS Genet , vol.5
    • Bucan, M.1    Abrahams, B.S.2    Wang, K.3
  • 29
    • 77950587223 scopus 로고    scopus 로고
    • Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia
    • Grozeva D, Kirov G, Ivanov D, et al.; Wellcome Trust Case Control Consortium. Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry 2010;67:318-327.
    • (2010) Arch Gen Psychiatry , vol.67 , pp. 318-327
    • Grozeva, D.1    Kirov, G.2    Ivanov, D.3
  • 30
    • 84873059190 scopus 로고    scopus 로고
    • Genome-wide association analysis of copy number variation in recurrent depressive disorder
    • e-pub ahead of print 1 November 2011
    • Rucker JJ, Breen G, Pinto D, et al. Genome-wide association analysis of copy number variation in recurrent depressive disorder. Mol Psychiatry 2011; e-pub ahead of print 1 November 2011.
    • (2011) Mol Psychiatry
    • Rucker, J.J.1    Breen, G.2    Pinto, D.3
  • 31
    • 81055157730 scopus 로고    scopus 로고
    • De novo copy number variants associated with intellectual disability have a paternal origin and age bias
    • Hehir-Kwa J Y, Rodríguez-Santiago B, Vissers LE, et al. De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet 2011;48:776-778.
    • (2011) J Med Genet , vol.48 , pp. 776-778
    • Hehir-Kwa, J.Y.1    Rodríguez-Santiago, B.2    Vissers, L.E.3
  • 32
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe B P, 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
  • 33
    • 84155191408 scopus 로고    scopus 로고
    • High frequencies of de novo cnvs in bipolar disorder and schizophrenia
    • Malhotra D, McCarthy S, Michaelson JJ, et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 2011;72:951-963.
    • (2011) Neuron , vol.72 , pp. 951-963
    • Malhotra, D.1    McCarthy, S.2    Michaelson, J.J.3
  • 34
    • 77953776675 scopus 로고    scopus 로고
    • Strong synaptic transmission impact by copy number variations in schizophrenia
    • Glessner JT, Reilly M P, Kim CE, et al. Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci USA 2010;107:10584-10589.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10584-10589
    • Glessner, J.T.1    Reilly, M.P.2    Kim, C.E.3
  • 35
    • 80053903662 scopus 로고    scopus 로고
    • Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
    • Sahoo T, Theisen A, Rosenfeld JA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med 2011;13:868-880.
    • (2011) Genet Med , vol.13 , pp. 868-880
    • Sahoo, T.1    Theisen, A.2    Rosenfeld, J.A.3
  • 37
    • 84866162425 scopus 로고    scopus 로고
    • Rare copy number variations in adults with tetralogy of fallot implicate novel risk gene pathways
    • Silversides CK, Lionel AC, Costain G, et al. Rare copy number variations in adults with tetralogy of fallot implicate novel risk gene pathways. PLoS Genet 2012;8:e1002843.
    • (2012) PLoS Genet , vol.8
    • Silversides, C.K.1    Lionel, A.C.2    Costain, G.3
  • 38
    • 56349136292 scopus 로고    scopus 로고
    • Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease
    • Fung WL, Chow EW, Webb GD, Gatzoulis MA, Bassett AS. Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol 2008;131:51-58.
    • (2008) Int J Cardiol , vol.131 , pp. 51-58
    • Fung, W.L.1    Chow, E.W.2    Webb, G.D.3    Gatzoulis, M.A.4    Bassett, A.S.5
  • 39
    • 80051709029 scopus 로고    scopus 로고
    • Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
    • Lionel AC, Crosbie J, Barbosa N, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med 2011;3:95ra75.
    • (2011) Sci Transl Med , vol.3
    • Lionel, A.C.1    Crosbie, J.2    Barbosa, N.3


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