Results 91 to 100 of about 790,983 (253)

Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH [PDF]

, 2004
Marine Guillaud-Bataille
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Role of Copy Number Variations in ADHD

, 2021
Copy number variations (CNV) have an important role in etiology of neurodevelopmental disorders (NDD). Among them, individuals with attention-deficit and hyperactivity disorders (ADHD) have 1.33 times higher overall rate of CNVs larger than 100 kb compared to healthy controls.
openaire   +3 more sources

Copy-Number Variations and Human Disease [PDF]

The American Journal of Human Genetics, 2007
R.A.H. is supported by operating grants from the Canadian Institutes of Health Research (MT14030), the Heart and Stroke Foundation of Ontario, Genome Canada through the Ontario Genomics Institute, a Career Investigator award from the Heart and Stroke Foundation of Ontario, the Edith Schulich Vinet Canada Research Chair (Tier I) in Human Genetics, and ...
openaire   +2 more sources

Genomic copy number variation analysis in multiple system atrophy

Molecular Brain, 2017
Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). CNVs affect gene expression by altering the genome structure and transposable elements within a region.
Yuka Hama, Masataka Katsu, Ichigaku Takigawa, Ichiro Yabe, Masaaki Matsushima, Ikuko Takahashi, Takayuki Katayama, Jun Utsumi, Hidenao Sasaki   +8 more
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Research progress in copy number variation in ovarian cancer [PDF]

Xin yixue
Genetic variation is one of the important factors leading to the incidence and development of cancer. Copy number variation is an important source of genetic diversity， which can be expressed as gene amplification or deletion in structure， and is related
SUN Mengna, XU Ying, REN Chenlu, YAN Yufan, CHEN Zhihao, YANG Hong
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Tandem repeat copy-number variation in protein-coding regions of human genes. [PDF]

, 2005
Colm O’Dushlaine, Richard J. Edwards, Stephen D Park, Denis C. Shields   +3 more
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Rare copy number deletions predict individual variation in intelligence.

PLoS ONE, 2011
Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible ...
Ronald A Yeo, Steven W Gangestad, Jingyu Liu, Vince D Calhoun, Kent E Hutchison   +4 more
doaj   +1 more source

A high resolution map of segmental DNA copy number variation in the mouse genome [PDF]

, 2005
Timothy A. Graubert, Patrick Cahan, Deepa Edwin, Rebecca R. Selzer, Todd Richmond, Peggy Eis, William D. Shannon, Xia Li, Howard L. McLeod, James M. Cheverud, Timothy J. Ley   +10 more
openalex   +1 more source

Copy Number Variations and Psychiatric Disorders

Tzu Chi Medical Journal, 2009
AbstractCopy number variations (CNVs) are gains and losses of DMA segments in the human genome, and form genetic variations. Recent studies have shown that CNVs contribute to the phenotypic variation in humans and are associated with complex diseases, including psychiatric disorders.
Yu Lin Chao, Jye Siung Fang, Wei Hsien Chien, Hsiao Mei Liao, Chia-Hsiang Chen   +4 more
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Consequences of CYP2D6 Copy-Number Variation for Pharmacogenomics in Psychiatry

Frontiers in Psychiatry, 2019
Pharmacogenomics represents a potentially powerful enhancement to the current standard of care for psychiatric patients. However, a variety of biological and technical challenges must be addressed in order to provide adequate clinical decision support ...
J. Jarvis, A. P. Peter, Jeffrey A. Shaman   +2 more
semanticscholar   +1 more source