Results 261 to 270 of about 968,335 (302)

Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG. [PDF]

Transl Psychiatry
Dubois AEE, Audet-Duchesne E, Knoth IS, Martin CO, Jizi K, Tamer P, Younis N, Jacquemont S, Dumas G, Lippé S.   +9 more
europepmc   +1 more source

Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis. [PDF]

Nat Commun
Xu X, Chen Q, Huang Q, Cox TC, Zhu H, Hu J, Han X, Meng Z, Wang B, Liao Z, Xu W, Xiao B, Lang R, Liu J, Huang J, Tang X, Wang J, Li Q, Liu T, Zhang Q, Antonarakis SE, Zhang J, Fan X, Liu H, Zhang YB.   +24 more
europepmc   +1 more source

Copy Number Variations of the <i>NSMF</i> Gene and Their Associations with Growth Traits in Three Chinese Sheep Breeds. [PDF]

Genes (Basel)
Cao X, Liu Y, Cheng J, Ling C, Huang J, Sun W.   +5 more
europepmc   +1 more source

Deciphering ovarian cancer heterogeneity through spatial transcriptomics, single-cell profiling, and copy number variations. [PDF]

PLoS One
Li S, Wang Z, Huang HD.
europepmc   +1 more source

IMGT^® analysis of the human IGH locus: unveiling novel polymorphisms and copy number variations in 15 genome assemblies from diverse ancestral backgrounds. [PDF]

NAR Genom Bioinform
Papadaki A, Georga M, Jabado-Michaloud J, Folch G, Zeitoun G, Duroux P, Giudicelli V, Kossida S.   +7 more
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