Cytogenetic and Genome Research————————个性化文献订阅—

The role of rare structural variants in the genetics of autism spectrum disorders
[作者：Kusenda, M; Sebat, J,期刊：Cytogenetic and Genome Research, 页码：36-43 , 文章类型： Article，,卷期：2008年123-39817]
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication and restricted interests and behaviors. Despite high estimates of heritability, genetic causes of ASD have long been ...

Detection and validation of copy number variation in X-linked mental retardation
[作者：Bauters, M; Weuts, A; Vandewalle, J; Nevelsteen, J; Marynen, P; Van Esch, H; Froyen, G,期刊：Cytogenetic and Genome Research, 页码：44-53 , 文章类型： Article，,卷期：2008年123-39817]
Studies to identify the genetic defects associated with X-linked mental retardation (XLMR) in males have revealed tens of genes important for normal brain development and cognitive functioning in men. Despite extensive e...

CNV and nervous system diseases - what's new?
[作者：Gu, W; Lupski, JR,期刊：Cytogenetic and Genome Research, 页码：54-64 , 文章类型： Review，,卷期：2008年123-39817]
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry dupl...

Benign copy number changes in clinical cytogenetic diagnostics by array CGH
[作者：Whitby, H; Tsalenko, A; Aston, E; Tsang, P; Mitchell, S; Bayrak-Toydemir, P; Hopkins, C; Peters, G; Bailey, DK; Bruhn, L; Brothman, AR,期刊：Cytogenetic and Genome Research, 页码：94-101 , 文章类型： Article，,卷期：2008年123-39817]
A database of apparently benign copy number variants (bCNVs) detected by a Spectral Genomics Inc./PerkinElmer BAC array platform has been maintained through the University of Utah Comparative Genomic Hybridization labora...

Copy number variations in chronic pancreatitis
[作者：Chen, JM; Masson, E; Le Marechal, C; Ferec, C,期刊：Cytogenetic and Genome Research, 页码：102-107 , 文章类型： Article，,卷期：2008年123-39817]
In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an apparent gain-of-function missense mutation, p.R122H, in the cationic trypsinogen gene (PRSS1) was identified. Thereafter,...

Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus
[作者：Ptacek, T; Li, X; Kelley, JM; Edberg, JC,期刊：Cytogenetic and Genome Research, 页码：142-147 , 文章类型： Article，,卷期：2008年123-39817]
Systemic lupus erythematosus (SLE) is a systemic autoimmune disorder characterized by the presence of auto-antibodies to nuclear antigens, immune complex deposition, and subsequent tissue destruction. Early studies in tw...

Copy number variation of beta-defensins and relevance to disease
[作者：Hollox, EJ,期刊：Cytogenetic and Genome Research, 页码：148-155 , 文章类型： Article，,卷期：2008年123-39817]
Beta-defensins are multifunctional proteins that have an important role in the innate immune system. A cluster of beta-defensin genes shows common and extensive variation in copy number in humans. This copy number has be...

HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5
[作者：Nakajima, T; Kaur, G; Mehra, N; Kimura, A,期刊：Cytogenetic and Genome Research, 页码：156-160 , 文章类型： Article，,卷期：2008年123-39817]
Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11....

Copy number variation of Fc gamma receptor genes and disease predisposition
[作者：Fanciulli, M; Vyse, TJ; Aitman, TJ,期刊：Cytogenetic and Genome Research, 页码：161-168 , 文章类型： Article，,卷期：2008年123-39817]
Naturally occurring variation in gene copy number is increasingly recognized as a major source of inter-individual differences in phenotype and is an important susceptibility factor for genetically complex diseases. Seve...

Sulfotransferase gene copy number variation: pharmacogenetics and function
[作者：Hebbring, SJ; Moyer, AM; Weinshilboum, RM,期刊：Cytogenetic and Genome Research, 页码：205-210 , 文章类型： Article，,卷期：2008年123-39817]
Pharmacogenetics is the study of the role of inheritance in variation to drug response. Drug response phenotypes can vary from adverse drug reactions at one end of the spectrum to equally serious lack of the desired e...

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting
[作者：Goobie, S; Knijnenburg, J; FitzPatrick, D; Sharkey, FH; Lionel, AC; Marshall, CR; Azam, T; Shago, M; Chong, K; Mendoza-Londono, R; den Hollander, NS; Ruivenkamp, C; Maher, E; Tanke, HJ; Szuhai, K; Wintle, RF; Scherer, SW,期刊：Cytogenetic and Genome Research, 页码：65-78 , 文章类型： Article，,卷期：2008年123-39817]
Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from ...

Large-scale copy number variants (CNVs) detected in different ethnic human populations
[作者：Takahashi, N; Satoh, Y; Kodaira, M; Katayama, H,期刊：Cytogenetic and Genome Research, 页码：224-233 , 文章类型： Article，,卷期：2008年123-39817]
The large-scale copy-number variations (CNVs) in the human genome are associated with developmental disorders and susceptibility to diseases. More importantly, CNVs may represent a major genetic component of our phenotyp...

Human copy number polymorphic genes
[作者：Bailey, JA; Kidd, JM; Eichler, EE,期刊：Cytogenetic and Genome Research, 页码：234-243 , 文章类型： Article，,卷期：2008年123-39817]
Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potential...

The emerging role of structural variations in common disorders: initial findings and discovery challenges
[作者：Armengol, L; Rabionet, R; Estivill, X,期刊：Cytogenetic and Genome Research, 页码：108-117 , 文章类型： Review，,卷期：2008年123-39817]
After the successful discoveries of genetic associations for common disorders using single nucleotide polymorphisms (SNPs) in genome-wide association scans (GWAS), new efforts are ongoing to evaluate the contribution of ...

Copy number variation in metabolic phenotypes
[作者：Lanktree, M; Hegele, RA,期刊：Cytogenetic and Genome Research, 页码：169-175 , 文章类型： Article，,卷期：2008年123-39817]
Despite successes in identifying genetic contributors to common metabolic phenotypes, only part of the heritable component of these traits has thus far been explained. Copy number variation (CNV) is likely to be responsi...

Copy number variation on the human Y chromosome
[作者：Jobling, MA,期刊：Cytogenetic and Genome Research, 页码：253-262 , 文章类型： Article，,卷期：2008年123-39817]
The Y chromosome is unusual in being constitutively haploid and escaping recombination for most of its length. This has led to a correspondingly unusual genomic landscape, rich in segmental duplications, which provide a ...

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