Structural variation in the human genome

被引：88

作者：

Lupski, James R. ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[3] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2007年 / 356卷 / 11期

关键词：

D O I：

10.1056/NEJMcibr067658

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1169 / 1171

页数：3

共 5 条

[1] Detection of large-scale variation in the human genome [J].

Iafrate, AJ ;

Feuk, L ;

Rivera, MN ;

Listewnik, ML ;

Donahoe, PK ;

Qi, Y ;

Scherer, SW ;

Lee, C .

NATURE GENETICS, 2004, 36 (09) :949-951

[2] Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders [J].

Lee, Jennifer A. ;

Lupski, James R. .

NEURON, 2006, 52 (01) :103-121

[3] Global variation in copy number in the human genome [J].

Redon, Richard ;

Ishikawa, Shumpei ;

Fitch, Karen R. ;

Feuk, Lars ;

Perry, George H. ;

Andrews, T. Daniel ;

Fiegler, Heike ;

Shapero, Michael H. ;

Carson, Andrew R. ;

Chen, Wenwei ;

Cho, Eun Kyung ;

Dallaire, Stephanie ;

Freeman, Jennifer L. ;

Gonzalez, Juan R. ;

Gratacos, Monica ;

Huang, Jing ;

Kalaitzopoulos, Dimitrios ;

Komura, Daisuke ;

MacDonald, Jeffrey R. ;

Marshall, Christian R. ;

Mei, Rui ;

Montgomery, Lyndal ;

Nishimura, Kunihiro ;

Okamura, Kohji ;

Shen, Fan ;

Somerville, Martin J. ;

Tchinda, Joelle ;

Valsesia, Armand ;

Woodwark, Cara ;

Yang, Fengtang ;

Zhang, Junjun ;

Zerjal, Tatiana ;

Zhang, Jane ;

Armengol, Lluis ;

Conrad, Donald F. ;

Estivill, Xavier ;

Tyler-Smith, Chris ;

Carter, Nigel P. ;

Aburatani, Hiroyuki ;

Lee, Charles ;

Jones, Keith W. ;

Scherer, Stephen W. ;

Hurles, Matthew E. .

NATURE, 2006, 444 (7118) :444-454

[4] Large-scale copy number polymorphism in the human genome [J].

Sebat, J ;

Lakshmi, B ;

Troge, J ;

Alexander, J ;

Young, J ;

Lundin, P ;

Måner, S ;

Massa, H ;

Walker, M ;

Chi, MY ;

Navin, N ;

Lucito, R ;

Healy, J ;

Hicks, J ;

Ye, K ;

Reiner, A ;

Gilliam, TC ;

Trask, B ;

Patterson, N ;

Zetterberg, A ;

Wigler, M .

SCIENCE, 2004, 305 (5683) :525-528

[5] Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features [J].

Shaw-Smith, C ;

Redon, R ;

Rickman, L ;

Rio, M ;

Willatt, L ;

Fiegler, H ;

Firth, H ;

Sanlaville, D ;

Winter, R ;

Colleaux, L ;

Bobrow, M ;

Carter, NP .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (04) :241-248

← 1 →