Journal Mobile Options

Vol. 123, No. 1-4, 2008

Issue release date: March 2009

Copy Number Variation and Disease

See also ISBN 978-3-8055-9093-8 for more details
Select / Unselect all
Special Section

Title Page / Table of Contents

Cytogenet Genome Res 123:1–4 (2008) (DOI:10.1159/000209257)
Free Access


Kehrer-Sawatzki H. · Cooper D.N.
Cytogenet Genome Res 123:5–6 (2008) (DOI:10.1159/000184686)
Free Access
Copy Number Variation and Inherited Disease

CNVs and genetic medicine (excitement and consequences of a rediscovery)

Beckmann J.S. · Sharp A.J. · Antonarakis S.E.
Cytogenet Genome Res 123:7–16 (2008) (DOI:10.1159/000184687)

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 123:17–26 (2008) (DOI:10.1159/000184688)
Free Access

Copy variations in schizophrenia and bipolar disorder

Lachman H.M.
Cytogenet Genome Res 123:27–35 (2008) (DOI:10.1159/000184689)
Free Access

The role of rare structural variants in the genetics of autism spectrum disorders

Kusenda M. · Sebat J.
Cytogenet Genome Res 123:36–43 (2008) (DOI:10.1159/000184690)
Free Access

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 123:44–53 (2008) (DOI:10.1159/000184691)

CNV and nervous system diseases – what’s new?

Gu W. · Lupski J.R.
Cytogenet Genome Res 123:54–64 (2008) (DOI:10.1159/000184692)
Free Access

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 123:65–78 (2008) (DOI:10.1159/000184693)
Free Access

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 123:79–87 (2008) (DOI:10.1159/000184694)

Benign and pathogenic copy number variation on the short arm of chromosome 4

Hannes F. · Vermeesch J.R.
Cytogenet Genome Res 123:88–93 (2008) (DOI:10.1159/000184695)

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 123:94–101 (2008) (DOI:10.1159/000184696)
Free Access

Copy number variations in chronic pancreatitis

Chen J.M. · Masson E. · Le Maréchal C. · Férec C.
Cytogenet Genome Res 123:102–107 (2008) (DOI:10.1159/000184697)
Copy Number Variation and Complex Disease

The emerging role of structural variations in common disorders: initial findings and discovery challenges

Armengol L. · Rabionet R. · Estivill X.
Cytogenet Genome Res 123:108–117 (2008) (DOI:10.1159/000184698)

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 123:118–130 (2008) (DOI:10.1159/000184699)

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 123:131–141 (2008) (DOI:10.1159/000184700)
Free Access

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 123:142–147 (2008) (DOI:10.1159/000184701)
Free Access

Copy number variation of beta-defensins and relevance to disease

Hollox E.J.
Cytogenet Genome Res 123:148–155 (2008) (DOI:10.1159/000184702)

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 123:156–160 (2008) (DOI:10.1159/000184703)

Copy number variation of Fc gamma receptor genes and disease predisposition

Fanciulli M. · Vyse T.J. · Aitman T.J.
Cytogenet Genome Res 123:161–168 (2008) (DOI:10.1159/000184704)

Copy number variation in metabolic phenotypes

Lanktree M. · Hegele R.A.
Cytogenet Genome Res 123:169–175 (2008) (DOI:10.1159/000184705)
Copy Number Variation and Cancer

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 123:176–182 (2008) (DOI:10.1159/000184706)

Chromosome copy number variation and breast cancer risk

Tchatchou S. · Burwinkel B.
Cytogenet Genome Res 123:183–187 (2008) (DOI:10.1159/000184707)

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 123:188–194 (2008) (DOI:10.1159/000184708)
Copy Number Variation and Pharmacogenetics

CNVs of human genes and their implication in pharmacogenetics

Johansson I. · Ingelman-Sundberg M.
Cytogenet Genome Res 123:195–204 (2008) (DOI:10.1159/000184709)

Sulfotransferase gene copy number variation: pharmacogenetics and function

Hebbring S.J. · Moyer A.M. · Weinshilboum R.M.
Cytogenet Genome Res 123:205–210 (2008) (DOI:10.1159/000184710)
Free Access
Copy Number Variations in Normal Human Populations

Germline copy number variation in control populations

Al-Sukhni W. · Gallinger S.
Cytogenet Genome Res 123:211–223 (2008) (DOI:10.1159/000184711)

Large-scale copy number variants (CNVs) detected in different ethnic human populations

Takahashi N. · Satoh Y. · Kodaira M. · Katayama H.
Cytogenet Genome Res 123:224–233 (2008) (DOI:10.1159/000184712)
Characterization of Copy Number Variations in the Human Genome

Human copy number polymorphic genes

Bailey J.A. · Kidd J.M. · Eichler E.E.
Cytogenet Genome Res 123:234–243 (2008) (DOI:10.1159/000184713)
Free Access

Human subtelomeric copy number variations

Riethman H.
Cytogenet Genome Res 123:244–252 (2008) (DOI:10.1159/000184714)
Free Access

Copy number variation on the human Y chromosome

Jobling M.A.
Cytogenet Genome Res 123:253–262 (2008) (DOI:10.1159/000184715)

Genomic drift and copy number variation of chemosensory receptor genes in humans and mice

Nozawa M. · Nei M.
Cytogenet Genome Res 123:263–269 (2008) (DOI:10.1159/000184716)
Free Access

Copy number variation and mosaicism

Notini A.J. · Craig J.M. · White S.J.
Cytogenet Genome Res 123:270–277 (2008) (DOI:10.1159/000184717)
Expression Divergence and Copy Number Variation

Expression divergence and copy number variation in the human genome

Auer H.
Cytogenet Genome Res 123:278–282 (2008) (DOI:10.1159/000184718)
Copy Number Variations and Evolution

The evolutionary significance of copy number variation in the human genome

Perry G.H.
Cytogenet Genome Res 123:283–287 (2008) (DOI:10.1159/000184719)
Free Access

Comparative analysis of copy number variation in primate genomes

Kehrer-Sawatzki H. · Cooper D.N.
Cytogenet Genome Res 123:288–296 (2008) (DOI:10.1159/000184720)
Copy Number Variations in the Genome of Model Organisms

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 123:297–306 (2008) (DOI:10.1159/000184721)
Free Access
Copy Number Variations: Technology of Detection and Analysis

CNV discovery using SNP genotyping arrays

Yau C. · Holmes C.C.
Cytogenet Genome Res 123:307–312 (2008) (DOI:10.1159/000184722)

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 123:313–321 (2008) (DOI:10.1159/000184723)

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 123:322–332 (2008) (DOI:10.1159/000184724)

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 123:333–342 (2008) (DOI:10.1159/000184725)

Computational methods for identification of recurrent copy number alteration patterns by array CGH

Shah S.P.
Cytogenet Genome Res 123:343–351 (2008) (DOI:10.1159/000184726)
Further Section

Author Index Vol. 123, 2008

Cytogenet Genome Res 123:352 (2008) (DOI:10.1159/000209258)
Free Access

Contents Vol. 123, 2008

Cytogenet Genome Res 123:I–IV (2008) (DOI:10.1159/000209259)
Free Access