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Special Section
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1
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Title Page / Table of Contents
Cytogenet Genome Res 2008;123:1-4 (DOI:10.1159/000209257)
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Paper
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5
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Preface
Kehrer-Sawatzki, H. ;
Cooper, D.N.
Cytogenet Genome Res 2008;123:5-6 (DOI:10.1159/000184686)
Article (PDF 52 KB)
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Copy Number Variation and Inherited Disease
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7
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CNVs and genetic medicine (excitement and consequences of a rediscovery)
Beckmann, J.S. ;
Sharp, A.J. ;
Antonarakis, S.E.
Cytogenet Genome Res 2008;123:7-16 (DOI:10.1159/000184687)
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Article (PDF 406 KB)
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17
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Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease
de Smith, A.J. ;
Walters, R.G. ;
Froguel, P. ;
Blakemore, A.I.
Cytogenet Genome Res 2008;123:17-26 (DOI:10.1159/000184688)
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Article (PDF 288 KB)
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27
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Copy variations in schizophrenia and bipolar disorder
Lachman, H.M.
Cytogenet Genome Res 2008;123:27-35 (DOI:10.1159/000184689)
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Article (PDF 278 KB)
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36
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The role of rare structural variants in the genetics of autism spectrum disorders
Kusenda, M. ;
Sebat, J.
Cytogenet Genome Res 2008;123:36-43 (DOI:10.1159/000184690)
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Article (PDF 239 KB)
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44
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Detection and validation of copy number variation in X-linked mental retardation
Bauters, M. ;
Weuts, A. ;
Vandewalle, J. ;
Nevelsteen, J. ;
Marynen, P. ;
Van Esch, H. ;
Froyen, G.
Cytogenet Genome Res 2008;123:44-53 (DOI:10.1159/000184691)
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Article (PDF 331 KB)
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54
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CNV and nervous system diseases - what's new?
Gu, W. ;
Lupski, J.R.
Cytogenet Genome Res 2008;123:54-64 (DOI:10.1159/000184692)
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Article (PDF 377 KB)
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65
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Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting
Goobie, S. ;
Knijnenburg, J. ;
FitzPatrick, D. ;
Sharkey, F.H. ;
Lionel, A.C. ;
Marshall, C.R. ;
Azam, T. ;
Shago, M. ;
Chong, K. ;
Mendoza-Londono, R. ;
den Hollander, N.S. ;
Ruivenkamp, C. ;
Maher, E. ;
Tanke, H.J. ;
Szuhai, K. ;
Wintle, R.F. ;
Scherer, S.W.
Cytogenet Genome Res 2008;123:65-78 (DOI:10.1159/000184693)
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79
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Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability
Qiao, Y. ;
Harvard, C. ;
Riendeau, N. ;
Fawcett, C. ;
Liu, X. ;
Holden, J.J.A. ;
Lewis, M.E.S. ;
Rajcan-Separovic, E.
Cytogenet Genome Res 2008;123:79-87 (DOI:10.1159/000184694)
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Article (PDF 341 KB)
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88
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Benign and pathogenic copy number variation on the short arm of chromosome 4
Hannes, F. ;
Vermeesch, J.R.
Cytogenet Genome Res 2008;123:88-93 (DOI:10.1159/000184695)
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Article (PDF 246 KB)
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94
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Benign copy number changes in clinical cytogenetic diagnostics by array CGH
Whitby, H. ;
Tsalenko, A. ;
Aston, E. ;
Tsang, P. ;
Mitchell, S. ;
Bayrak-Toydemir, P. ;
Hopkins, C. ;
Peters, G. ;
Bailey, D.K. ;
Bruhn, L. ;
Brothman, A.R.
Cytogenet Genome Res 2008;123:94-101 (DOI:10.1159/000184696)
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102
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Copy number variations in chronic pancreatitis
Chen, J.M. ;
Masson, E. ;
Le Maréchal, C. ;
Férec, C.
Cytogenet Genome Res 2008;123:102-107 (DOI:10.1159/000184697)
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Article (PDF 215 KB)
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Copy Number Variation and Complex Disease
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108
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The emerging role of structural variations in common disorders: initial findings and discovery challenges
Armengol, L. ;
Rabionet, R. ;
Estivill, X.
Cytogenet Genome Res 2008;123:108-117 (DOI:10.1159/000184698)
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Article (PDF 396 KB)
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118
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Diseases associated with the low copy number of the C4B gene encoding C4, the fourth component of complement
Szilágyi, Á. ;
Füst, G.
Cytogenet Genome Res 2008;123:118-130 (DOI:10.1159/000184699)
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Article (PDF 549 KB)
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131
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Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus
Wu, Y.L. ;
Yang, Y. ;
Chung, E.K. ;
Zhou, B. ;
Kitzmiller, K.J. ;
Savelli, S.L. ;
Nagaraja, H.N. ;
Birmingham, D.J. ;
Tsao, B.P. ;
Rovin, B.H. ;
Hebert, L.A. ;
Yu, C.Y.
Cytogenet Genome Res 2008;123:131-141 (DOI:10.1159/000184700)
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Article (PDF 532 KB)
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142
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Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus
Ptacek, T. ;
Li, X. ;
Kelley, J.M. ;
Edberg, J.C.
Cytogenet Genome Res 2008;123:142-147 (DOI:10.1159/000184701)
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Article (PDF 205 KB)
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148
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Copy number variation of beta-defensins and relevance to disease
Hollox, E.J.
Cytogenet Genome Res 2008;123:148-155 (DOI:10.1159/000184702)
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Article (PDF 330 KB)
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156
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HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5
Nakajima, T. ;
Kaur, G. ;
Mehra, N. ;
Kimura, A.
Cytogenet Genome Res 2008;123:156-160 (DOI:10.1159/000184703)
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Article (PDF 172 KB)
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161
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Copy number variation of Fc gamma receptor genes and disease predisposition
Fanciulli, M. ;
Vyse, T.J. ;
Aitman, T.J.
Cytogenet Genome Res 2008;123:161-168 (DOI:10.1159/000184704)
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Article (PDF 476 KB)
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169
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Copy number variation in metabolic phenotypes
Lanktree, M. ;
Hegele, R.A.
Cytogenet Genome Res 2008;123:169-175 (DOI:10.1159/000184705)
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Article (PDF 197 KB)
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Copy Number Variation and Cancer
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176
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Copy number alterations and copy number variation in cancer: close encounters of the bad kind
Speleman, F. ;
Kumps, C. ;
Buysse, K. ;
Poppe, B. ;
Menten, B. ;
De Preter, K.
Cytogenet Genome Res 2008;123:176-182 (DOI:10.1159/000184706)
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Article (PDF 258 KB)
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183
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Chromosome copy number variation and breast cancer risk
Tchatchou, S. ;
Burwinkel, B.
Cytogenet Genome Res 2008;123:183-187 (DOI:10.1159/000184707)
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Article (PDF 210 KB)
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188
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Predisposition to colorectal cancer: exploiting copy number variation to identify novel predisposing genes and mechanisms
Venkatachalam, R. ;
Ligtenberg, M.J.L. ;
Hoogerbrugge, N. ;
Geurts van Kessel, A. ;
Kuiper, R.P.
Cytogenet Genome Res 2008;123:188-194 (DOI:10.1159/000184708)
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Article (PDF 257 KB)
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Copy Number Variation and Pharmacogenetics
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195
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CNVs of human genes and their implication in pharmacogenetics
Johansson, I. ;
Ingelman-Sundberg, M.
Cytogenet Genome Res 2008;123:195-204 (DOI:10.1159/000184709)
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Article (PDF 338 KB)
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205
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Sulfotransferase gene copy number variation: pharmacogenetics and function
Hebbring, S.J. ;
Moyer, A.M. ;
Weinshilboum, R.M.
Cytogenet Genome Res 2008;123:205-210 (DOI:10.1159/000184710)
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Article (PDF 284 KB)
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Copy Number Variations in Normal Human Populations
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211
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Germline copy number variation in control populations
Al-Sukhni, W. ;
Gallinger, S.
Cytogenet Genome Res 2008;123:211-223 (DOI:10.1159/000184711)
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Article (PDF 425 KB)
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224
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Large-scale copy number variants (CNVs) detected in different ethnic human populations
Takahashi, N. ;
Satoh, Y. ;
Kodaira, M. ;
Katayama, H.
Cytogenet Genome Res 2008;123:224-233 (DOI:10.1159/000184712)
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Article (PDF 316 KB)
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Characterization of Copy Number Variations in the Human Genome
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234
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Human copy number polymorphic genes
Bailey, J.A. ;
Kidd, J.M. ;
Eichler, E.E.
Cytogenet Genome Res 2008;123:234-243 (DOI:10.1159/000184713)
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Article (PDF 469 KB)
Free Suppl. Material (488 KB)
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244
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Human subtelomeric copy number variations
Riethman, H.
Cytogenet Genome Res 2008;123:244-252 (DOI:10.1159/000184714)
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Article (PDF 341 KB)
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253
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Copy number variation on the human Y chromosome
Jobling, M.A.
Cytogenet Genome Res 2008;123:253-262 (DOI:10.1159/000184715)
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Article (PDF 390 KB)
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263
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Genomic drift and copy number variation of chemosensory receptor genes in humans and mice
Nozawa, M. ;
Nei, M.
Cytogenet Genome Res 2008;123:263-269 (DOI:10.1159/000184716)
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Article (PDF 456 KB)
Free Suppl. Material (346 KB)
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270
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Copy number variation and mosaicism
Notini, A.J. ;
Craig, J.M. ;
White, S.J.
Cytogenet Genome Res 2008;123:270-277 (DOI:10.1159/000184717)
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Article (PDF 327 KB)
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Expression Divergence and Copy Number Variation
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278
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Expression divergence and copy number variation in the human genome
Auer, H.
Cytogenet Genome Res 2008;123:278-282 (DOI:10.1159/000184718)
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Article (PDF 173 KB)
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Copy Number Variations and Evolution
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283
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The evolutionary significance of copy number variation in the human genome
Perry, G.H.
Cytogenet Genome Res 2008;123:283-287 (DOI:10.1159/000184719)
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Article (PDF 194 KB)
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288
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Comparative analysis of copy number variation in primate genomes
Kehrer-Sawatzki, H. ;
Cooper, D.N.
Cytogenet Genome Res 2008;123:288-296 (DOI:10.1159/000184720)
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Article (PDF 234 KB)
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Copy Number Variations in the Genome of Model Organisms
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297
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Copy number variation in the mouse genome: implications for the mouse as a model organism for human disease
Cutler, G. ;
Kassner, P.D.
Cytogenet Genome Res 2008;123:297-306 (DOI:10.1159/000184721)
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Article (PDF 614 KB)
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Copy Number Variations: Technology of Detection and Analysis
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307
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CNV discovery using SNP genotyping arrays
Yau, C. ;
Holmes, C.C.
Cytogenet Genome Res 2008;123:307-312 (DOI:10.1159/000184722)
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Article (PDF 580 KB)
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313
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Methods to detect CNVs in the human genome
Aten, E. ;
White, S.J. ;
Kalf, M.E. ;
Vossen, R.H.A.M. ;
Thygesen, H.H. ;
Ruivenkamp, C.A. ;
Kriek, M. ;
Breuning, M.H.B. ;
den Dunnen, J.T.
Cytogenet Genome Res 2008;123:313-321 (DOI:10.1159/000184723)
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Article (PDF 426 KB)
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322
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Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays
Winchester, L. ;
Newbury, D.F. ;
Monaco, A.P. ;
Ragoussis, J.
Cytogenet Genome Res 2008;123:322-332 (DOI:10.1159/000184724)
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Article (PDF 884 KB)
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333
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Methods to detect and analyze copy number variations at the genome-wide and locus-specific levels
Lee, J.H. ;
Jeon, J.T.
Cytogenet Genome Res 2008;123:333-342 (DOI:10.1159/000184725)
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Article (PDF 456 KB)
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343
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Computational methods for identification of recurrent copy number alteration patterns by array CGH
Shah, S.P.
Cytogenet Genome Res 2008;123:343-351 (DOI:10.1159/000184726)
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Article (PDF 589 KB)
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Further Section
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352
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Author Index Vol. 123, 2008
Cytogenet Genome Res 2008;123:352 (DOI:10.1159/000209258)
Article (PDF 37 KB)
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Contents Vol. 123, 2008
Cytogenet Genome Res 2008;123: (DOI:10.1159/000209259)
Article (PDF 81 KB)
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