Structural variations in the human genome

作者: M. Jager

DOI:

关键词: GenomeHuman genomeGeneticsBiology

摘要: … It seems to be a consequence of both genetic and environmental factors, but the exact cause has not been found yet. Several susceptibility genes had already been found, but none of …

参考文章(36)
Lucy R Osborne, Martin Li, Barbara Pober, David Chitayat, Joann Bodurtha, Ariane Mandel, Teresa Costa, Theresa Grebe, Sarah Cox, Lap-Chee Tsui, Stephen W Scherer, None, A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nature Genetics. ,vol. 29, pp. 321- 325 ,(2001) , 10.1038/NG753
Yang Kang, Huiping Yuan, Fang Cheng, Shihui Yu, Wulian Song, A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. Molecular Vision. ,vol. 17, pp. 448- 455 ,(2011)
Michael R. Lieber, The mechanism of human nonhomologous DNA end joining. Journal of Biological Chemistry. ,vol. 283, pp. 1- 5 ,(2008) , 10.1074/JBC.R700039200
Min Li, Christian Marin-Muller, Uddalak Bharadwaj, Kwong-Hon Chow, Qizhi Yao, Changyi Chen, MicroRNAs: Control and loss of control in human physiology and disease World Journal of Surgery. ,vol. 33, pp. 667- 684 ,(2009) , 10.1007/S00268-008-9836-X
V Grossmann, M Höckner, H Karmous-Benailly, D Liang, R Puttinger, R Quadrelli, B Röthlisberger, A Huber, L Wu, A Spreiz, C Fauth, M Erdel, J Zschocke, G Utermann, D Kotzot, Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis. Clinical Genetics. ,vol. 78, pp. 548- 553 ,(2010) , 10.1111/J.1399-0004.2010.01419.X
Farjana Fattah, Eu Han Lee, Natalie Weisensel, Yongbao Wang, Natalie Lichter, Eric A. Hendrickson, Ku Regulates the Non-Homologous End Joining Pathway Choice of DNA Double-Strand Break Repair in Human Somatic Cells PLoS Genetics. ,vol. 6, pp. e1000855- ,(2010) , 10.1371/JOURNAL.PGEN.1000855
P. J. Hastings, Grzegorz Ira, James R. Lupski, A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation PLoS Genetics. ,vol. 5, pp. e1000327- ,(2009) , 10.1371/JOURNAL.PGEN.1000327
, Completing the map of human genetic variation. Nature. ,vol. 447, pp. 161- 165 ,(2007) , 10.1038/447161A
Indra Adrianto, Feng Wen, Amanda Templeton, Graham Wiley, Jarrod B King, Christopher J Lessard, Jared S Bates, Yanqing Hu, Jennifer A Kelly, Kenneth M Kaufman, Joel M Guthridge, Marta E Alarcón-Riquelme, Juan-Manuel Anaya, Sang-Cheol Bae, So-Young Bang, Susan A Boackle, Elizabeth E Brown, Michelle A Petri, Caroline Gallant, Rosalind Ramsey-Goldman, John D Reveille, Luis M Vila, Lindsey A Criswell, Jeffrey C Edberg, Barry I Freedman, Peter K Gregersen, Gary S Gilkeson, Chaim O Jacob, Judith A James, Diane L Kamen, Robert P Kimberly, Javier Martin, Joan T Merrill, Timothy B Niewold, So-Yeon Park, Bernardo A Pons-Estel, R Hal Scofield, Anne M Stevens, Betty P Tsao, Timothy J Vyse, Carl D Langefeld, John B Harley, Kathy L Moser, Carol F Webb, Mary Beth Humphrey, Courtney Gray Montgomery, Patrick M Gaffney, Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus Nature Genetics. ,vol. 43, pp. 253- 258 ,(2011) , 10.1038/NG.766
Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler, Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms American Journal of Human Genetics. ,vol. 88, pp. 317- 332 ,(2011) , 10.1016/J.AJHG.2011.02.004