Results 1 to 10 of about 790,983 (253)

Copy number variation in the bovine genome [PDF]

BMC Genomics, 2010
Background Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease.
Bendixen Christian, Holm Lars-Erik, Thomsen Bo, Fadista João   +3 more
doaj   +4 more sources

Copy number variation in African Americans [PDF]

BMC Genetics, 2009
Background Copy number variants (CNVs) have been identified in several studies to be associated with complex diseases. It is important, therefore, to understand the distribution of CNVs within and among populations.
Caillier Stacy J, Nelson Matthew R, McElroy Joseph P, Oksenberg Jorge R   +3 more
doaj   +4 more sources

Copy number variation in the horse genome. [PDF]

PLoS Genetics, 2014
We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse.
Sharmila Ghosh, Zhipeng Qu, Pranab J Das, Erica Fang, Rytis Juras, E Gus Cothran, Sue McDonell, Daniel G Kenney, Teri L Lear, David L Adelson, Bhanu P Chowdhary, Terje Raudsepp   +11 more
doaj   +6 more sources

β-Defensin gene copy number variation in cattle [PDF]

Royal Society Open Science
β-Defensins are peptides with antimicrobial roles, characterized by a conserved tertiary structure. Beyond antimicrobial functions, they exhibit diverse roles in both the immune response and fertility, including involvement in sperm maturation and ...
Ozge Sidekli, John Oketch, Sean Fair, Kieran G. Meade, Edward J. Hollox   +4 more
doaj   +3 more sources

Copy Number Variation at the APOL1 Locus. [PDF]

PLoS ONE, 2015
Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease ...
Rupam Ruchi, Giulio Genovese, Jessica Lee, Victoria T Charoonratana, Andrea J Bernhardy, Seth L Alper, Jeffrey B Kopp, Ravi Thadhani, David J Friedman, Martin R Pollak   +9 more
doaj   +5 more sources

Human subtelomeric copy number variations [PDF]

Cytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
Harold Riethman
openalex   +4 more sources

Rare copy number variation in autoimmune Addison’s disease [PDF]

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +2 more sources

Elusive copy number variation in the mouse genome.

PLoS ONE, 2010
BackgroundArray comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation.
Avigail Agam, Binnaz Yalcin, Amarjit Bhomra, Matthew Cubin, Caleb Webber, Christopher Holmes, Jonathan Flint, Richard Mott   +7 more
doaj   +2 more sources

Copy number variation map [PDF]

Nature Reviews Genetics, 2006
Magdalena Skipper
openalex   +2 more sources

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

BMC Pregnancy and Childbirth, 2022
Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period.
Xinyue Meng, Lili Jiang
doaj   +1 more source