Results 21 to 30 of about 112,737 (278)

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

De la desregulación y crisis a las finanzas para el desarrollo económico [PDF]

Ola Financiera, 2009
Después de un largo periodo de fuerte desregulación financiera no solo no se generaron condiciones de crecimiento económico sostenido, sino que las posibilidades de desarrollo se extinguieron por completo para el mundo entero, desde China a Estados ...
Alejandro Vanoli, Augusto Magliano
doaj  

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

OCT Angiography: An Upcoming Tool for Diagnosis and Treatment of Retinal Vascular Diseases

Delhi Journal of Ophthalmology, 2015
Optical Coherence Tomography (OCT) angiography is an upcoming non-invasive and dyeless imaging modality which depicts retinal microvasculature by processing scans taken repeatedly at the same location, at different points of time using Split-spectrum ...
Purnima Sood, Nalini Saxena, Dinesh Talwar   +2 more
doaj   +1 more source

Kernel-based aggregation of marker-level genetic association tests involving copy-number variation [PDF]

, 2013
Genetic association tests involving copy-number variants (CNVs) are complicated by the fact that CNVs span multiple markers at which measurements are taken. The power of an association test at a single marker is typically low, and it is desirable to pool
Breheny, Patrick, Li, Yinglei
core   +3 more sources

CCR3 and choroidal neovascularization. [PDF]

PLoS ONE, 2011
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly in industrialized countries. The "wet" AMD, characterized by the development of choroidal neovacularization (CNV), could result in rapid and severe loss ...
Yiwen Li, Deqiang Huang, Xin Xia, Zhengying Wang, Lingyu Luo, Rong Wen   +5 more
doaj   +1 more source

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

, 2012
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth, Sabatti, Chiara, Zhang, Zhongyang   +2 more
core   +4 more sources

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. [PDF]

, 2020
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia.
Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hellard, Stephanie Le, Hibar, Derrek P, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Håberg, Asta, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Leu, Costin, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Martin-Brevet, Sandra, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Mühleisen, Thomas W, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Sønderby, Ida E   +99 more
core   +1 more source

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source

Bioinformatic analysis reveals GSG2 as a potential target for breast cancer therapy

Open Life Sciences, 2019
To explore the potential role of GSG2 in breast cancer progression.
Ye Zheng, Zhang Zhaoyu, Fang Lijiao, Tian Daiquan, Liu Xin   +4 more
doaj   +1 more source