Results 51 to 60 of about 1,761,052 (374)

Copy Number Variation Disorders [PDF]

Current Genetic Medicine Reports, 2017
Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
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Mosaic copy number variation in schizophrenia [PDF]

European Journal of Human Genetics, 2013
Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
George Kirov, Patrick F. Sullivan, Jennifer L. Moran, David St Clair, Pamela Sklar, Christina M. Hultman, Christina M. Hultman, Elizabeth Suchi Chen, Patrick Magnusson, Carlos N. Pato, Carl Ernst, Douglas Blackwood, James F. Gusella, Michael J. Owen, Kim Chambert, Michael Conlon O'Donovan, Hugh Gurling, Aiden Corvin, Carolina Oliveira Gigek, Douglas M. Ruderfer, Douglas M. Ruderfer, Douglas M. Ruderfer, Michael E. Talkowski, Shaun Purcell, Shaun Purcell, Shaun Purcell   +25 more
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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
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Copy number variation in Parkinson's disease [PDF]

Genome Medicine, 2010
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Owen A. Ross, Mathias Toft
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Evolutionary impact of copy number variation rates

BMC Research Notes, 2017
Objective Copy number variation is now recognized as one of the major sources of genetic variation among individuals in natural populations of any species.
Guillermo Rodrigo
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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
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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 ...
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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
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Genome-wide copy number variation study in anorectal malformations [PDF]

, 2013
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity.
Baum, L, Chan, IHY, Chang, T, Cheng, G, Cherny, SS, Chung, HY, Cui, L, Garcia-Barcelo, MM, Kwan, P, Lau, YL, Liu, JJ, Liu, X, Lui, VCH, Miao, X, Ng, CL, Ngan, ESW, Ren, YQ, Sham, PC, So, MT, Sun, LD, Sun, XB, Tam, PKH, Tang, CSM, Tang, WK, Wang, HL, Wang, RY, Wong, EHM, Wong, KKY, Xia, JL, Yang, W, Yin, XY, Yip, BHK, Yuan, ZW, Zhang, R, Zhang, SW, Zhang, XJ, Zuo, XB   +36 more
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Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Molecular Genetics & Genomic Medicine, 2020
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.
Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani   +12 more
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