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Items: 1 to 20 of 163

1.

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.

Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, Brown RH, Tobin MD, Al-Chalabi A.

PLoS One. 2009 Dec 4;4(12):e8175. doi: 10.1371/journal.pone.0008175.

2.

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.

Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH.

Lancet Neurol. 2008 Apr;7(4):319-26. doi: 10.1016/S1474-4422(08)70048-6. Epub 2008 Mar 3.

PMID:
18313986
3.

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.

4.

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.

5.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH.

Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.

PMID:
20685689
6.

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ.

Lancet Neurol. 2010 Oct;9(10):978-85. doi: 10.1016/S1474-4422(10)70184-8.

7.

Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.

Shrine N, Tobin MD, Schurmann C, Soler Artigas M, Hui J, Lehtimäki T, Raitakari OT, Pennell CE, Ang QW, Strachan DP, Homuth G, Gläser S, Felix SB, Evans DM, Henderson J, Granell R, Palmer LJ, Huffman J, Hayward C, Scotland G, Malarstig A, Musk B, James AL; UK BiLEVE, Wain LV.

BMC Genet. 2016 Aug 11;17(1):116. doi: 10.1186/s12863-016-0423-0.

8.

Genome-wide copy number analysis reveals candidate gene loci that confer susceptibility to high-grade prostate cancer.

Poniah P, Mohd Zain S, Abdul Razack AH, Kuppusamy S, Karuppayah S, Sian Eng H, Mohamed Z.

Urol Oncol. 2017 Sep;35(9):545.e1-545.e11. doi: 10.1016/j.urolonc.2017.04.017. Epub 2017 May 17.

PMID:
28527622
9.

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations.

Cronin S, Blauw HM, Veldink JH, van Es MA, Ophoff RA, Bradley DG, van den Berg LH, Hardiman O.

Hum Mol Genet. 2008 Nov 1;17(21):3392-8. doi: 10.1093/hmg/ddn233. Epub 2008 Aug 7.

PMID:
18689356
10.

Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.

Sokolowski M, Wasserman J, Wasserman D.

PLoS One. 2016 Dec 28;11(12):e0168531. doi: 10.1371/journal.pone.0168531. eCollection 2016.

11.

A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.

Moon S, Keam B, Hwang MY, Lee Y, Park S, Oh JH, Kim YJ, Lee HS, Kim NH, Kim YJ, Kim DH, Han BG, Kim BJ, Lee J.

BMC Musculoskelet Disord. 2015 Apr 4;16:76. doi: 10.1186/s12891-015-0531-4.

12.

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Saadati HR, Wittig M, Helbig I, Häsler R, Anderson CA, Mathew CG, Kupcinskas L, Parkes M, Karlsen TH, Rosenstiel P, Schreiber S, Franke A.

BMC Med Genet. 2016 Apr 1;17:26. doi: 10.1186/s12881-016-0289-z.

13.

Novel association strategy with copy number variation for identifying new risk Loci of human diseases.

Chen X, Li X, Wang P, Liu Y, Zhang Z, Zhao G, Xu H, Zhu J, Qin X, Chen S, Hu L, Kong X.

PLoS One. 2010 Aug 20;5(8):e12185. doi: 10.1371/journal.pone.0012185.

14.

Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.

Uyan Ö, Ömür Ö, Ağım ZS, Özoğuz A, Li H, Parman Y, Deymeer F, Oflazer P, Koç F, Tan E, Özçelik H, Başak AN.

PLoS One. 2013 Aug 26;8(8):e72381. doi: 10.1371/journal.pone.0072381. eCollection 2013.

15.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P.

Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979.

16.

Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis.

Pamphlett R, Morahan JM, Luquin N, Yu B.

Muscle Nerve. 2011 Oct;44(4):492-8. doi: 10.1002/mus.22095. Epub 2011 Aug 8.

PMID:
21826678
17.

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder.

Jarick I, Volckmar AL, Pütter C, Pechlivanis S, Nguyen TT, Dauvermann MR, Beck S, Albayrak Ö, Scherag S, Gilsbach S, Cichon S, Hoffmann P, Degenhardt F, Nöthen MM, Schreiber S, Wichmann HE, Jöckel KH, Heinrich J, Tiesler CM, Faraone SV, Walitza S, Sinzig J, Freitag C, Meyer J, Herpertz-Dahlmann B, Lehmkuhl G, Renner TJ, Warnke A, Romanos M, Lesch KP, Reif A, Schimmelmann BG, Hebebrand J, Scherag A, Hinney A.

Mol Psychiatry. 2014 Jan;19(1):115-21. doi: 10.1038/mp.2012.161. Epub 2012 Nov 20.

18.

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.

Meltz Steinberg K, Nicholas TJ, Koboldt DC, Yu B, Mardis E, Pamphlett R.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):385-92. doi: 10.3109/21678421.2015.1040029. Epub 2015 May 11.

PMID:
25960086
19.

Analysis of copy number variations at 15 schizophrenia-associated loci.

Rees E, Walters JT, Georgieva L, Isles AR, Chambert KD, Richards AL, Mahoney-Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G.

Br J Psychiatry. 2014 Feb;204(2):108-14. doi: 10.1192/bjp.bp.113.131052. Epub 2013 Dec 5.

20.

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.

Rees E, Kendall K, Pardiñas AF, Legge SE, Pocklington A, Escott-Price V, MacCabe JH, Collier DA, Holmans P, O'Donovan MC, Owen MJ, Walters JTR, Kirov G.

JAMA Psychiatry. 2016 Sep 1;73(9):963-969. doi: 10.1001/jamapsychiatry.2016.1831.

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