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Items: 1 to 20 of 23

1.

Origins and functional impact of copy number variation in the human genome.

Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME.

Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

2.

A highly annotated whole-genome sequence of a Korean individual.

Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Lee S, Kim HJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim JY, Gokcumen O, Mills RE, Zaranek AW, Thakuria J, Wu X, Kim RW, Huntley JJ, Luo S, Schroth GP, Wu TD, Kim H, Yang KS, Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS.

Nature. 2009 Aug 20;460(7258):1011-5. doi: 10.1038/nature08211. Epub 2009 Jul 8.

3.

Gastric cancer in Japan.

Horowitz RE.

N Engl J Med. 2008 Nov 27;359(22):2393-4; author reply 2394-5. doi: 10.1056/NEJMc081797. No abstract available.

4.

Analysis of 17,576 potentially functional SNPs in three case-control studies of myocardial infarction.

Shiffman D, Kane JP, Louie JZ, Arellano AR, Ross DA, Catanese JJ, Malloy MJ, Ellis SG, Devlin JJ.

PLoS One. 2008 Aug 6;3(8):e2895. doi: 10.1371/journal.pone.0002895.

5.

Mapping and sequencing of structural variation from eight human genomes.

Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE.

Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.

6.

The fine-scale and complex architecture of human copy-number variation.

Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C.

Am J Hum Genet. 2008 Mar;82(3):685-95. doi: 10.1016/j.ajhg.2007.12.010. Epub 2008 Jan 24.

7.

Proportionally more deleterious genetic variation in European than in African populations.

Lohmueller KE, Indap AR, Schmidt S, Boyko AR, Hernandez RD, Hubisz MJ, Sninsky JJ, White TJ, Sunyaev SR, Nielsen R, Clark AG, Bustamante CD.

Nature. 2008 Feb 21;451(7181):994-7. doi: 10.1038/nature06611.

8.

Association of LY9 in UK and Canadian SLE families.

Cunninghame Graham DS, Vyse TJ, Fortin PR, Montpetit A, Cai YC, Lim S, McKenzie T, Farwell L, Rhodes B, Chad L, Hudson TJ, Sharpe A, Terhorst C, Greenwood CM, Wither J, Rioux JD; CaNIOS GenES Investigators.

Genes Immun. 2008 Mar;9(2):93-102. doi: 10.1038/sj.gene.6364453. Epub 2008 Jan 24.

PMID:
18216865
9.

Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.

Larson MG, Atwood LD, Benjamin EJ, Cupples LA, D'Agostino RB Sr, Fox CS, Govindaraju DR, Guo CY, Heard-Costa NL, Hwang SJ, Murabito JM, Newton-Cheh C, O'Donnell CJ, Seshadri S, Vasan RS, Wang TJ, Wolf PA, Levy D.

BMC Med Genet. 2007 Sep 19;8 Suppl 1:S5.

10.

Paired-end mapping reveals extensive structural variation in the human genome.

Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, Taillon BE, Chen Z, Tanzer A, Saunders AC, Chi J, Yang F, Carter NP, Hurles ME, Weissman SM, Harkins TT, Gerstein MB, Egholm M, Snyder M.

Science. 2007 Oct 19;318(5849):420-6. Epub 2007 Sep 27.

11.

Obesity and diabetes in the developing world--a growing challenge.

Hossain P, Kawar B, El Nahas M.

N Engl J Med. 2007 Jan 18;356(3):213-5. No abstract available. Erratum in: N Engl J Med. 2007 Mar 1;356(9):973.

12.

Global variation in copy number in the human genome.

Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME.

Nature. 2006 Nov 23;444(7118):444-54.

13.

Body-mass index and mortality in Korean men and women.

Jee SH, Sull JW, Park J, Lee SY, Ohrr H, Guallar E, Samet JM.

N Engl J Med. 2006 Aug 24;355(8):779-87. Epub 2006 Aug 22.

14.

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.

Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT.

Nature. 2006 Feb 16;439(7078):851-5.

PMID:
16482158
15.

A high-resolution survey of deletion polymorphism in the human genome.

Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK.

Nat Genet. 2006 Jan;38(1):75-81. Epub 2005 Dec 4.

PMID:
16327808
16.

Detection of RhD(el) in RhD-negative persons in clinical laboratory.

Wang YH, Chen JC, Lin KT, Lee YJ, Yang YF, Lin TM.

J Lab Clin Med. 2005 Dec;146(6):321-5.

PMID:
16310514
17.

Putative association between a new polymorphism in exon 3 (Arg109Cys) of the pancreatic colipase gene and type 2 diabetes mellitus in two independent Caucasian study populations.

Lindner I, Helwig U, Rubin D, Li Y, Fisher E, Boeing H, Möhlig M, Spranger J, Pfeiffer A, Hampe J, Schreiber S, Döring F, Schrezenmeir J.

Mol Nutr Food Res. 2005 Oct;49(10):972-6.

PMID:
16189801
18.

Fine-scale structural variation of the human genome.

Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE.

Nat Genet. 2005 Jul;37(7):727-32. Epub 2005 May 15.

PMID:
15895083
19.

PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.

Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH.

Oncogene. 2005 Feb 17;24(8):1477-80.

PMID:
15608678
20.

Detection of large-scale variation in the human genome.

Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C.

Nat Genet. 2004 Sep;36(9):949-51. Epub 2004 Aug 1.

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