Results 211 to 220 of about 188,720 (256)

Germline copy number variants and endometrial cancer risk. [PDF]

Hum Genet
Stylianou CE, Wiggins GAR, Lau VL, Dennis J, Shelling AN, Wilson M, Sykes P, Amant F, Annibali D, De Wispelaere W, Easton DF, Fasching PA, Glubb DM, Goode EL, Lambrechts D, Pharoah PDP, Scott RJ, Tham E, Tomlinson I, Bolla MK, Couch FJ, Czene K, Dörk T, Dunning AM, Fletcher O, García-Closas M, Hoppe R, ABCTB Investigators, Jernström H, Kaaks R, Michailidou K, Obi N, Southey MC, Stone J, Wang Q, Spurdle AB, O'Mara TA, Pearson J, Walker LC.   +38 more
europepmc   +1 more source

Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome. [PDF]

Mol Cytogenet
Silva C, Ferrão J, Marques B, Pedro S, Correia H, Valente A, Rodrigues AS, Vieira L.   +7 more
europepmc   +1 more source

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. [PDF]

Heart
DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK, EBAV Investigators.   +24 more
europepmc   +1 more source

Neurodevelopmental copy number variants increase risk of internalising and cardiometabolic multimorbidity: findings from UK Biobank

Katzourou IK, LINC consortium, Barroso I, Clayton J, Khandaker G, Stow D, Timpson N, Tsang R, Underwood J, Wood M, Kirov G, Walters J, Owen MJ, Holmans P, van den Bree MBM.   +14 more
europepmc   +1 more source

A Review of Copy Number Variants in Inherited Neuropathies [PDF]

Current Genomics, 2018
The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important ...
Henry Houlden, Vincenzo Salpietro, Stephanie Efthymiou   +2 more
exaly   +5 more sources

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Copy Number Variants and Pharmacogenomics

Pharmacogenomics, 2005
The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we
Karim, Ouahchi, Neal, Lindeman, Charles, Lee   +2 more
openaire   +2 more sources

Somatic copy number variants in neuropsychiatric disorders

Current Opinion in Genetics & Development, 2021
Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur post-zygotically, and are therefore present in some but not all cells of the body.
Eduardo A Maury, Christopher A Walsh
openaire   +2 more sources

An evolving view of copy number variants

Current Genetics, 2019
Copy number variants (CNVs) are regions of the genome that vary in integer copy number. CNVs, which comprise both amplifications and deletions of DNA sequence, have been identified across all domains of life, from bacteria and archaea to plants and animals.
Stephanie Lauer, David Gresham
openaire   +2 more sources

Copy Number Variants

2011
The progression of cytogenetics from banded chromosomes to DNA segment dosage as detected by comparative genomic hybridization-microarray analysis (aCGH, also abbreviated as CMA) has greatly increased the frequency of positive findings and difficulties of interpretation. The technique of aCGH (Fig.
Herman E. Wyandt, Vijay S. Tonk
openaire   +1 more source

Copy number variants and fetal growth in stillbirths

American Journal of Obstetrics and Gynecology, 2023
Fetal growth abnormalities are associated with a higher incidence of stillbirth, with small and large for gestational age infants incurring a 3 to 4- and 2 to 3-fold increased risk, respectively. Although clinical risk factors such as diabetes, hypertension, and placental insufficiency have been associated with fetal growth aberrations and stillbirth ...
Susan E. Dalton, Tsegaselassie Workalemahu, Amanda A. Allshouse, Jessica M. Page, Uma M. Reddy, George R. Saade, Halit Pinar, Robert L. Goldenberg, Donald J. Dudley, Robert M. Silver   +9 more
openaire   +2 more sources