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Results: 18

1.

Microduplications of 16p11.2 are associated with schizophrenia.

McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J.

Nat Genet. 2009 Nov;41(11):1223-7. doi: 10.1038/ng.474. Epub 2009 Oct 25.

PMID:
19855392
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Morene L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M.

Hum Hered. 2009;68(3):151-70. doi: 10.1159/000224636. Epub 2009 Jun 11.

PMID:
19521098
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A genome-wide investigation of SNPs and CNVs in schizophrenia.

Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W, Kasperaviciūte D, Gennarelli M, Strittmatter WJ, Bonvicini C, Rossi G, Jayathilake K, Cola PA, McEvoy JP, Keefe RS, Fisher EM, St Jean PL, Giegling I, Hartmann AM, Möller HJ, Ruppert A, Fraser G, Crombie C, Middleton LT, St Clair D, Roses AD, Muglia P, Francks C, Rujescu D, Meltzer HY, Goldstein DB.

PLoS Genet. 2009 Feb;5(2):e1000373. doi: 10.1371/journal.pgen.1000373. Epub 2009 Feb 6. Erratum in: PLoS Genet. 2009 Mar;5(3). doi: 10.1371/annotation/e0196ebb-de40-453f-8f8c-791b126618da.

PMID:
19197363
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.

Li B, Leal SM.

Am J Hum Genet. 2008 Sep;83(3):311-21. doi: 10.1016/j.ajhg.2008.06.024. Epub 2008 Aug 7.

PMID:
18691683
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

Azzopardi D, Dallosso AR, Eliason K, Hendrickson BC, Jones N, Rawstorne E, Colley J, Moskvina V, Frye C, Sampson JR, Wenstrup R, Scholl T, Cheadle JP.

Cancer Res. 2008 Jan 15;68(2):358-63. doi: 10.1158/0008-5472.CAN-07-5733.

PMID:
18199528
[PubMed - indexed for MEDLINE]
Free Article
6.

Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels.

Slatter TL, Jones GT, Williams MJ, van Rij AM, McCormick SP.

Clin Genet. 2008 Feb;73(2):179-84. doi: 10.1111/j.1399-0004.2007.00940.x.

PMID:
18199144
[PubMed - indexed for MEDLINE]
7.

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms.

Gorlov IP, Gorlova OY, Sunyaev SR, Spitz MR, Amos CI.

Am J Hum Genet. 2008 Jan;82(1):100-12. doi: 10.1016/j.ajhg.2007.09.006.

PMID:
18179889
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The genetic basis of complex traits: rare variants or "common gene, common disease"?

Iyengar SK, Elston RC.

Methods Mol Biol. 2007;376:71-84.

PMID:
17984539
[PubMed - indexed for MEDLINE]
9.

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.

Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover RN, Thomas G, Chanock SJ.

Nat Genet. 2007 Jul;39(7):870-4. Epub 2007 May 27.

PMID:
17529973
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.

Yeager M, Orr N, Hayes RB, Jacobs KB, Kraft P, Wacholder S, Minichiello MJ, Fearnhead P, Yu K, Chatterjee N, Wang Z, Welch R, Staats BJ, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Gelmann EP, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover R, Hunter DJ, Chanock SJ, Thomas G.

Nat Genet. 2007 May;39(5):645-9. Epub 2007 Apr 1.

PMID:
17401363
[PubMed - indexed for MEDLINE]
11.

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.

Kryukov GV, Pennacchio LA, Sunyaev SR.

Am J Hum Genet. 2007 Apr;80(4):727-39. Epub 2007 Mar 8.

PMID:
17357078
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.

Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ, Bodmer WF.

Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15992-7. Epub 2004 Nov 1.

PMID:
15520370
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH.

Science. 2004 Aug 6;305(5685):869-72.

PMID:
15297675
[PubMed - indexed for MEDLINE]
Free Article
14.

The allelic architecture of human disease genes: common disease-common variant...or not?

Pritchard JK, Cox NJ.

Hum Mol Genet. 2002 Oct 1;11(20):2417-23. Review.

PMID:
12351577
[PubMed - indexed for MEDLINE]
Free Article
15.

Trend tests for case-control studies of genetic markers: power, sample size and robustness.

Freidlin B, Zheng G, Li Z, Gastwirth JL.

Hum Hered. 2002;53(3):146-52. Erratum in: Hum Hered. 2009;68(3):220.

PMID:
12145550
[PubMed - indexed for MEDLINE]
Free Article
16.

Are rare variants responsible for susceptibility to complex diseases?

Pritchard JK.

Am J Hum Genet. 2001 Jul;69(1):124-37. Epub 2001 Jun 12.

PMID:
11404818
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The significance of digital gene expression profiles.

Audic S, Claverie JM.

Genome Res. 1997 Oct;7(10):986-95.

PMID:
9331369
[PubMed - indexed for MEDLINE]
Free Article
18.

Increased prevalence of systemic sclerosis in a Native American tribe in Oklahoma. Association with an Amerindian HLA haplotype.

Arnett FC, Howard RF, Tan F, Moulds JM, Bias WB, Durban E, Cameron HD, Paxton G, Hodge TJ, Weathers PE, Reveille JD.

Arthritis Rheum. 1996 Aug;39(8):1362-70.

PMID:
8702445
[PubMed - indexed for MEDLINE]

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