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Items: 1 to 20 of 328

1.

Genome-wide analysis of copy number variation in type 1 diabetes.

Grayson BL, Smith ME, Thomas JW, Wang L, Dexheimer P, Jeffrey J, Fain PR, Nanduri P, Eisenbarth GS, Aune TM.

PLoS One. 2010 Nov 15;5(11):e15393. doi: 10.1371/journal.pone.0015393.

2.

A Genome Wide Study of Copy Number Variation Associated with Nasopharyngeal Carcinoma in Malaysian Chinese Identifies CNVs at 11q14.3 and 6p21.3 as Candidate Loci.

Low JS, Chin YM, Mushiroda T, Kubo M, Govindasamy GK, Pua KC, Yap YY, Yap LF, Subramaniam SK, Ong CA, Tan TY, Khoo AS; Malaysian NPC Study Group, Ng CC.

PLoS One. 2016 Jan 5;11(1):e0145774. doi: 10.1371/journal.pone.0145774. eCollection 2016.

3.

CNV Concordance in 1,097 MZ Twin Pairs.

Abdellaoui A, Ehli EA, Hottenga JJ, Weber Z, Mbarek H, Willemsen G, van Beijsterveldt T, Brooks A, Hudziak JJ, Sullivan PF, de Geus EJ, Davies GE, Boomsma DI.

Twin Res Hum Genet. 2015 Feb;18(1):1-12. doi: 10.1017/thg.2014.86. Epub 2015 Jan 12.

PMID:
25578775
4.

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes.

Zanda M, Onengut-Gumuscu S, Walker N, Shtir C, Gallo D, Wallace C, Smyth D, Todd JA, Hurles ME, Plagnol V, Rich SS.

PLoS Genet. 2014 May 29;10(5):e1004367. doi: 10.1371/journal.pgen.1004367. eCollection 2014.

5.

Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.

McRae AF, Visscher PM, Montgomery GW, Martin NG.

Twin Res Hum Genet. 2015 Feb;18(1):13-8. doi: 10.1017/thg.2014.85. Epub 2015 Jan 12.

PMID:
25578400
6.

Large copy-number variations are enriched in cases with moderate to extreme obesity.

Wang K, Li WD, Glessner JT, Grant SF, Hakonarson H, Price RA.

Diabetes. 2010 Oct;59(10):2690-4. doi: 10.2337/db10-0192. Epub 2010 Jul 9.

7.
8.

Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy.

Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, Kim EM, Park M, Kim DJ, Lee EJ, Kim EK, Lee JY, Shin HD.

Ophthalmology. 2010 Jul;117(7):1306-12.e4. doi: 10.1016/j.ophtha.2009.11.021. Epub 2010 Mar 3.

PMID:
20202685
9.

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

Veenma D, Brosens E, de Jong E, van de Ven C, Meeussen C, Cohen-Overbeek T, Boter M, Eussen H, Douben H, Tibboel D, de Klein A.

Eur J Hum Genet. 2012 Mar;20(3):298-304. doi: 10.1038/ejhg.2011.194. Epub 2011 Nov 9.

10.

Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.

Kim JH, Jung SH, Bae JS, Lee HS, Yim SH, Park SY, Bang SY, Hu HJ, Shin HD, Bae SC, Chung YJ.

Arthritis Rheum. 2013 Apr;65(4):1055-63. doi: 10.1002/art.37854.

11.

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.

Uebe S, Ehrlicher M, Ekici AB, Behrens F, Böhm B, Homuth G, Schurmann C, Völker U, Jünger M, Nauck M, Völzke H, Traupe H, Krawczak M, Burkhardt H, Reis A, Hüffmeier U.

BMC Med Genet. 2017 Aug 23;18(1):92. doi: 10.1186/s12881-017-0447-y.

12.

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C.

Nature. 2007 Aug 2;448(7153):591-4. Epub 2007 Jul 15.

PMID:
17632545
13.

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.

Priebe L, Degenhardt FA, Herms S, Haenisch B, Mattheisen M, Nieratschker V, Weingarten M, Witt S, Breuer R, Paul T, Alblas M, Moebus S, Lathrop M, Leboyer M, Schreiber S, Grigoroiu-Serbanescu M, Maier W, Propping P, Rietschel M, Nöthen MM, Cichon S, Mühleisen TW.

Mol Psychiatry. 2012 Apr;17(4):421-32. doi: 10.1038/mp.2011.8. Epub 2011 Mar 1.

PMID:
21358712
14.

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.

Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R.

Mol Psychiatry. 2011 May;16(5):491-503. doi: 10.1038/mp.2010.29. Epub 2010 Mar 23.

PMID:
20308990
15.

CONAN: copy number variation analysis software for genome-wide association studies.

Forer L, Schönherr S, Weissensteiner H, Haider F, Kluckner T, Gieger C, Wichmann HE, Specht G, Kronenberg F, Kloss-Brandstätter A.

BMC Bioinformatics. 2010 Jun 14;11:318. doi: 10.1186/1471-2105-11-318.

16.

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.

Cooper NJ, Shtir CJ, Smyth DJ, Guo H, Swafford AD, Zanda M, Hurles ME, Walker NM, Plagnol V, Cooper JD, Howson JM, Burren OS, Onengut-Gumuscu S, Rich SS, Todd JA.

Hum Mol Genet. 2015 Mar 15;24(6):1774-90. doi: 10.1093/hmg/ddu581. Epub 2014 Nov 25.

17.

Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins.

Elboudwarej E, Cole M, Briggs FB, Fouts A, Fain PR, Quach H, Quach D, Sinclair E, Criswell LA, Lane JA, Steck AK, Barcellos LF, Noble JA.

J Autoimmun. 2016 Apr;68:23-9. doi: 10.1016/j.jaut.2015.12.003. Epub 2016 Jan 9.

18.

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

Sites ER, Smolarek TA, Martin LJ, Viskochil DH, Stevenson DA, Ullrich NJ, Messiaen LM, Schorry EK.

Am J Med Genet A. 2017 Mar;173(3):647-653. doi: 10.1002/ajmg.a.38058. Epub 2016 Nov 14.

PMID:
27862945
19.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.

Am J Hum Genet. 2016 Sep 1;99(3):540-554. doi: 10.1016/j.ajhg.2016.06.036. Epub 2016 Aug 25.

20.

Characterization of germline copy number variation in high-risk African American families with prostate cancer.

Ledet EM, Hu X, Sartor O, Rayford W, Li M, Mandal D.

Prostate. 2013 May;73(6):614-23. doi: 10.1002/pros.22602. Epub 2012 Oct 11.

PMID:
23060098

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