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Volumn 123, Issue 1-4, 2009, Pages 94-101

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME BREAKAGE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA HYBRIDIZATION; DNA MICROARRAY; GENE FREQUENCY; HUMAN; HUMAN GENOME; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL;

EID: 62549096376     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000184696     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 43649098567 scopus 로고    scopus 로고
    • Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform
    • Aston E, Whitby H, Maxwell T, Glaus N, Cowley B, et al: Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform. J Med Genet 45:268-274 (2008).
    • (2008) J Med Genet , vol.45 , pp. 268-274
    • Aston, E.1    Whitby, H.2    Maxwell, T.3    Glaus, N.4    Cowley, B.5
  • 2
    • 33745953354 scopus 로고    scopus 로고
    • Cytogenetic heteromorphisms: Survey results and reporting practices of Giemsa-band regions that we have pondered for years
    • Brothman AR, Schneider NR, Saikevych I, Cooley LD, Butler MG, et al: Cytogenetic heteromorphisms: Survey results and reporting practices of Giemsa-band regions that we have pondered for years. Arch Pathol Lab Med 130:947-949 (2006).
    • (2006) Arch Pathol Lab Med , vol.130 , pp. 947-949
    • Brothman, A.R.1    Schneider, N.R.2    Saikevych, I.3    Cooley, L.D.4    Butler, M.G.5
  • 3
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • Carter NP: Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39:S16-21 (2007).
    • (2007) Nat Genet , vol.39
    • Carter, N.P.1
  • 4
    • 49649115106 scopus 로고    scopus 로고
    • Curry C, Mao R, Aston E, Mongia S, Treisman T, et al: Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation? Am J Hum Genet Part A 146A:1903-1910 (2008).
    • Curry C, Mao R, Aston E, Mongia S, Treisman T, et al: Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation? Am J Hum Genet Part A 146A:1903-1910 (2008).
  • 5
    • 33751503099 scopus 로고    scopus 로고
    • Molecular karyotyping of patients with MCA/MR: The blurred boundary between normal and pathogenic variation
    • de Ravel TJ, Balikova I, Thienpont B, Hannes F, Maas N, et al: Molecular karyotyping of patients with MCA/MR: The blurred boundary between normal and pathogenic variation. Cytogenet Genome Res 115:225-230 (2006).
    • (2006) Cytogenet Genome Res , vol.115 , pp. 225-230
    • de Ravel, T.J.1    Balikova, I.2    Thienpont, B.3    Hannes, F.4    Maas, N.5
  • 6
    • 35748971743 scopus 로고    scopus 로고
    • Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases
    • de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, et al: Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases. Hum Mol Genet 16:2783-2794 (2007).
    • (2007) Hum Mol Genet , vol.16 , pp. 2783-2794
    • de Smith, A.J.1    Tsalenko, A.2    Sampas, N.3    Scheffer, A.4    Yamada, N.A.5
  • 8
    • 39749197456 scopus 로고    scopus 로고
    • Genotype, haplotype and copynumber variation in worldwide human populations
    • Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, et al: Genotype, haplotype and copynumber variation in worldwide human populations. Nature 451:998-1003 (2008).
    • (2008) Nature , vol.451 , pp. 998-1003
    • Jakobsson, M.1    Scholz, S.W.2    Scheet, P.3    Gibbs, J.R.4    VanLiere, J.M.5
  • 9
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, et al: Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64 (2008).
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3    Hayden, H.S.4    Sampas, N.5
  • 10
    • 33748323156 scopus 로고    scopus 로고
    • A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
    • Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, et al: A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38:999-1001 (2006).
    • (2006) Nat Genet , vol.38 , pp. 999-1001
    • Koolen, D.A.1    Vissers, L.E.2    Pfundt, R.3    de Leeuw, N.4    Knight, S.J.5
  • 11
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, et al: Paired-end mapping reveals extensive structural variation in the human genome. Science 318:420-426 (2007a).
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3    Godwin, B.4    Grubert, F.5
  • 12
    • 34547204201 scopus 로고    scopus 로고
    • Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome
    • Korbel JO, Urban AE, Grubert F, Du J, Royce TE, et al: Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proc Natl Acad Sci USA 104:10110-10115 (2007b).
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 10110-10115
    • Korbel, J.O.1    Urban, A.E.2    Grubert, F.3    Du, J.4    Royce, T.E.5
  • 14
    • 34347361618 scopus 로고    scopus 로고
    • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    • Lee C, Iafrate AJ, Brothman AR: Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39:S48-54 (2007).
    • (2007) Nat Genet , vol.39
    • Lee, C.1    Iafrate, A.J.2    Brothman, A.R.3
  • 15
    • 62549165115 scopus 로고    scopus 로고
    • Lipson D, Tsalenko A, Yakhini Z, Ben-Dor A: Interval scores for quality annotated CGH data. Workshop on Genomic Signal Processing and Statistics (GENSIPS), Newport, Rhode Island (2005).
    • Lipson D, Tsalenko A, Yakhini Z, Ben-Dor A: Interval scores for quality annotated CGH data. Workshop on Genomic Signal Processing and Statistics (GENSIPS), Newport, Rhode Island (2005).
  • 16
    • 33645993906 scopus 로고    scopus 로고
    • Efficient calculation of interval scores for DNA copy number data analysis
    • Lipson D, Aumann Y, Ben-Dor A, Linial N, Yakhini Z: Efficient calculation of interval scores for DNA copy number data analysis. J Comput Biol 13:215-228 (2006).
    • (2006) J Comput Biol , vol.13 , pp. 215-228
    • Lipson, D.1    Aumann, Y.2    Ben-Dor, A.3    Linial, N.4    Yakhini, Z.5
  • 18
    • 34447561885 scopus 로고    scopus 로고
    • Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/realtime qPCR analysis
    • Qiao Y, Liu X, Harvard C, Nolin SL, Brown WT, et al: Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/realtime qPCR analysis. BMC Genomics 8:167 (2007).
    • (2007) BMC Genomics , vol.8 , pp. 167
    • Qiao, Y.1    Liu, X.2    Harvard, C.3    Nolin, S.L.4    Brown, W.T.5
  • 19
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al: Global variation in copy number in the human genome. Nature 444:444-454 (2006).
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3    Feuk, L.4    Perry, G.H.5
  • 20
  • 21
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al: Large-scale copy number polymorphism in the human genome. Science 305:525-528 (2004).
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3    Alexander, J.4    Young, J.5
  • 22
    • 33748333194 scopus 로고    scopus 로고
    • Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
    • Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, et al: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042 (2006).
    • (2006) Nat Genet , vol.38 , pp. 1038-1042
    • Sharp, A.J.1    Hansen, S.2    Selzer, R.R.3    Cheng, Z.4    Regan, R.5
  • 23
    • 33748300645 scopus 로고    scopus 로고
    • Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    • Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, et al: Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38:1032-1037 (2006).
    • (2006) Nat Genet , vol.38 , pp. 1032-1037
    • Shaw-Smith, C.1    Pittman, A.M.2    Willatt, L.3    Martin, H.4    Rickman, L.5
  • 24
    • 42349088634 scopus 로고    scopus 로고
    • Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    • Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al: Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320:539-543 (2008).
    • (2008) Science , vol.320 , pp. 539-543
    • Walsh, T.1    McClellan, J.M.2    McCarthy, S.E.3    Addington, A.M.4    Pierce, S.B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.