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Copy number variations at the Rhg1 locus and their relationship with resistance to soybean cyst nematode (Heterodera glycines). [PDF]

Front Plant Sci
Poudel D, Yan G, Miranda C, Kreutz GF, Chowdhury IA.   +4 more
europepmc   +1 more source

Mosaic Chromosomal Alterations/Somatic Copy Number Variations: A New Frontier in Genetic Association Studies of Complex Diseases. [PDF]

Biol Psychiatry
Li D.
europepmc   +1 more source

Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion. [PDF]

Intern Med
Maeda K.
europepmc   +1 more source

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Copy-number variation

Nature Reviews Microbiology, 2020
This study reports that extensive copy number variations occur in the presence of azole antifungal drugs in Candida albicans, which might cause phenotypic and population-level heterogeneity observed in clinical isolates.
A. Jeremy Willsey, Montana T. Morris
exaly   +5 more sources

Copy Number Variation

2018
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversions and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 250 kb are strongly associated with morbid consequences ...
Aurélien, Macé, Zoltán, Kutalik, Armand, Valsesia   +2 more
openaire   +3 more sources

Copy Number Variation

2010
Recent genetic epidemiology studies have been dominated by genome-wide association (GWA) studies using single nucleotide polymorphisms (SNPs). However, a form of structural genomic variation, termed copy number variation (CNV), is also widespread throughout the human genome, and can be highly polymorphic between individuals.
Wain, LV, Tobin, MD
openaire   +3 more sources

Copy number variation and mosaicism

Cytogenetic and Genome Research, 2008
Mosaicism is the presence of cells within an organism that have a different genetic composition despite deriving from a single zygote. The consequence of this depends on the number and type of cells that are affected as well as the specific DNA involved.
A J, Notini, J M, Craig, S J, White
openaire   +2 more sources

Gene copy number variation in schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2007
AbstractRecent reports have highlighted the possibility that gene copy number variations play a role in the development of complex disorders and have suggested that some variations are very common in schizophrenic patients. We have carried out a comparative genomic hybridization screen using oligonucleotide probes of 891 candidate genes to look for ...
Smitha R, Sutrala, Nadine, Norton, Nigel M, Williams, Paul R, Buckland   +3 more
openaire   +5 more sources

Copy number variation in metabolic phenotypes

Cytogenetic and Genome Research, 2008
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 responsible for some of the unexplained variation.
M, Lanktree, R A, Hegele
openaire   +2 more sources

Copy number variations in chronic pancreatitis

Cytogenetic and Genome Research, 2008
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 (<i>PRSS1</i>) was identified. Thereafter, the search for chronic pancreatitis-associated genetic factors has been largely focused on one form of genetic ...
J M, Chen, E, Masson, C, Le Maréchal, C, Férec   +3 more
openaire   +2 more sources