Results 41 to 50 of about 1,224,700 (304)

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]

, 2016
Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J., Banihani, Ahmad H., Barthold, Julia Spencer, Chiavacci, Rosetta M., Devoto, Marcella, Figueroa, T. Ernesto, Gonzalez, Ricardo, Hagerty, Jennifer A., Hakonarson, Hakon, Harden, Kisha R., Kim, Cecilia E., Kolon, Thomas F., Li, Jin, Noh, Paul H., Olivant Fisher, Alicia, Sol Church, Katia, Stabley, Deborah, Wang, Yanping   +17 more
core   +1 more source

Copy number variation in bipolar disorder. [PDF]

, 2015
Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4))
A McQuillin, Cross-Disorder Group of the Psychiatric Genomics Consortium, D Grozeva, D Grozeva, D Grozeva, D Malhotra, D Malhotra, D Zhang, E K Green, E Rees, E Rees, E Rees, EK Green, EK Green, F Degenhardt, G Genovese, G Kirov, G Kirov, G Kirov, I Jones, J L Moran, J T R Walters, JI Nurnberger Jr, JK Wing, K D Chambert, K-G Smith, L Forty, L Georgieva, L Jones, L Priebe, M C O'Donovan, M J Owen, MJ Owen, ML Hamshere, N Craddock, N Craddock, N Craddock, NM Williams, P Sklar, P Sklar, RL Spitzer, RM Murray, S A McCarroll, S Girirajan, S Girirajan, S Purcell, S Purcell, S Ripke, S Steinberg, Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SE Bergen, SE McCarthy, SM Purcell   +53 more
core   +3 more sources

Rare copy number variation in cerebral palsy [PDF]

, 2013
As per publisher: published online 22 May 2013Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known.
A MacLennan, A Moreno-De-Luca, A Moreno-De-Luca, A Raj, AJ Verkerk, Alastair MacLennan, Andres Moreno-De-Luca, B Petterson, BJ O'Roak, C Harvard, Catherine Gibson, CG de Kovel, Chloe Shard, Christa Lese Martin, CN Lynex, D Pinto, DP McHale, DP McHale, EM Strijbis, Eric Haan, Evan Eichler, G Cooper, Gai McMichael, HC Mefford, HM Ozgen, J Gardosi, J Molina, JA Veltman, JH Chai, Jillian Nicholl, Jozef Gecz, JR Lupski, KB Nelson, L Feuk, L Potocki, Lam Son Nguyen, M Aza-Carmona, M Garshasbi, M Medina, M Seeger, M Trimborn, ME O'Callaghan, ME O’Callaghan, N Badawi, N Paneth, NJ Wild, P Bauer, P Rosenbaum, PD Evans, R Abou Jamra, R Carrozzo, R Palisano, RR Selzer, S Girirajan, S Girirajan, S Girirajan, Santhosh Girirajan, T Vrijenhoek, W Henke, X Gai   +59 more
core   +1 more source

A remark on copy number variation detection methods. [PDF]

PLoS ONE, 2018
Copy number variations (CNVs) are gain and loss of DNA sequence of a genome. High throughput platforms such as microarrays and next generation sequencing technologies (NGS) have been applied for genome wide copy number losses.
Shuo Li, Xialiang Dou, Ruiqi Gao, Xinzhou Ge, Minping Qian, Lin Wan   +5 more
doaj   +1 more source

Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy

Frontiers in Genetics, 2021
The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis.
Heming Wu, Heming Wu, Qingyan Huang, Qingyan Huang, Xia Zhang, Xia Zhang, Zhikang Yu, Zhikang Yu, Zhixiong Zhong, Zhixiong Zhong   +9 more
doaj   +1 more source

Copy number variation genotyping using family information [PDF]

, 2013
BACKGROUND: In recent years there has been a growing interest in the role of copy number variations (CNV) in genetic diseases. Though there has been rapid development of technologies and statistical methods devoted to detection in CNVs from array data ...
Angela Rogers, Benjamin A Raby, Charles Lee, Iuliana Ionita-Laza, Jen-hwa Chu, Katayoon Darvishi, Ryan E Mills   +6 more
core   +2 more sources

Copy number variation in familial Parkinson disease.

PLoS ONE, 2011
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single ...
Nathan Pankratz, Alexandra Dumitriu, Kurt N Hetrick, Mei Sun, Jeanne C Latourelle, Jemma B Wilk, Cheryl Halter, Kimberly F Doheny, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, Anita L DeStefano, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories   +13 more
doaj   +1 more source

Copy number variation in livestock: A mini review [PDF]

Veterinary World, 2018
Copy number variation (CNV) is a phenomenon in which sections of the genome, ranging from one kilo base pair (Kb) to several million base pairs (Mb), are repeated and the number of repeats vary between the individuals in a population.
V. Bhanuprakash, Supriya Chhotaray, D. R. Pruthviraj, Chandrakanta Rawat, A. Karthikeyan, Manjit Panigrahi   +5 more
doaj   +1 more source

Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +1 more source

Copy Number Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire   +2 more sources