Results 21 to 30 of about 9,837,393 (260)

Copy Number Variants in Epileptic Encephalopathy

Pediatric Neurology Briefs, 2012
An international group of investigators at University of Washington, Seattle, USA, and various centers in Australia, New Zealand, Canada, and Israel evaluated 315 patients with epileptic encephalopathies for rare copy number variants (CNVs) using a whole-
J Gordon Millichap
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Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus) [PDF]

, 2014
Copy–number variants (CNVs) may play an important role in early adaptations, potentially facilitating rapid divergence of populations. We describe an approach to study this question by investigating CNVs present in natural populations of mice in the ...
Diethard eTautz, JarosÅ‚aw Bryk, Bryk, Jarek, Tautz, D. ; https://orcid.org/, Jarosław eBryk, Bryk, J., Diethard Tautz, Tautz, Diethard   +7 more
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Extensive Copy-Number Variation of Young Genes across Stickleback Populations [PDF]

, 2014
MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1).
Manfred Milinski (47828), Samonte, I., Tobias L. Lenz, Erich Bornberg-Bauer (135063), Bornberg-Bauer, E, Reusch, Thorsten B. H., Mahesh Panchal, Philine G. D. Feulner, Panchal, Mahesh, Philine G D Feulner, Samonte, IE, Feulner, P., Panchal, M., Philine G. D. Feulner (331067), Milinski, Manfred, Eizaguirre, C, Samonte, Irene E., Monika Stoll (77524), Kalbe, M., Monika Stoll, Reusch, TBH, Christophe Eizaguirre (669459), Chain, Frédéric J. J., Stoll, Monika, Irene E. Samonte (669460), Irene E Samonte, Reusch, T., Lenz, TL, Christophe Eizaguirre, Kalbe, Martin, Manfred Milinski, Panchal, M, Frédéric J. J. Chain (270412), Eizaguirre, C., Thorsten B H Reusch, Martin Kalbe, Martin Kalbe (47827), Chain, F. J. J., Chain, F., Kalbe, M, Eizaguirre, Christophe, Frédéric J. J. Chain, Lenz, T. L., Mahesh Panchal (669458), Reusch, Thorsten B.H., Thorsten B. H. Reusch (333945), Lenz, T., Stoll, M., Milinski, M, Tobias L Lenz, Feulner, Philine, Bornberg-Bauer, Erich, Irene E. Samonte, Chain, FJJ, Erich Bornberg-Bauer, Samonte, I. E., Stoll, M, Feulner, PGD, Zhang, Jianzhi, Feulner, P. G. D., Bornberg-Bauer, E., Thorsten B. H. Reusch, Frédéric J J Chain, Milinski, M., Tobias L. Lenz (669461), Lenz, Tobias L.   +65 more
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aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations. [PDF]

PLoS ONE, 2017
Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the copy number and are often associated with ...
Victor Renault, Jörg Tost, Fabien Pichon, Shu-Fang Wang-Renault, Eric Letouzé, Sandrine Imbeaud, Jessica Zucman-Rossi, Jean-François Deleuze, Alexandre How-Kit   +8 more
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Copy Number Variation: Methods and Clinical Applications

Applied Sciences, 2021
Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases.
Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes   +8 more
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Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report

BMC Medical Genetics, 2020
Background Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents.
Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung, Yeun-Jun Chung   +3 more
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CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
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Copy number variation in African Americans

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
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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
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Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment [PDF]

, 2015
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury, Paracchini, Silvia, Emily Reeves, Charles Hulme, Pettigrew, Kerry A., Hayiou-Thomas, Marianna E., Margaret J Snowling, Simpson, Nuala H., Thompson, Paul A., Paul Thompson, Margaret J. Snowling (782135), Marianna E Hayiou-Thomas, Marianna E. Hayiou-Thomas (782131), Nuala H Simpson, Anahita Sharma, Angela Martinelli (782133), Thompson, Paul; id_orcid, Thompson, Paul, Hulme, Charles, Charles Hulme (782134), Snowling, Margaret J., Ruth Leavett, Silvia Paracchini, Kerry A. Pettigrew (782128), Anahita Sharma (782132), Silvia Paracchini (238619), Emily Reeves (782129), Kerry A Pettigrew, Angela Martinelli, Martinelli, Angela, Newbury, Dianne F., Sharma, Anahita, Ruth Leavett (782130), Dianne F. Newbury (297003), Leavett, Ruth, Paul Thompson (515751), Reeves, Emily, Nuala H. Simpson (703485)   +37 more
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