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Items: 1 to 20 of 87

1.

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.

Lacey CJ, Doudney K, Bridgman PG, George PM, Mulder RT, Zarifeh JJ, Kimber B, Cadzow MJ, Black MA, Merriman TR, Lehnert K, Bickley VM, Pearson JF, Cameron VA, Kennedy MA.

Sci Rep. 2018 May 15;8(1):7548. doi: 10.1038/s41598-018-25827-5.

2.

Acute myocardial infarction and stress cardiomyopathy following the Christchurch earthquakes.

Chan C, Elliott J, Troughton R, Frampton C, Smyth D, Crozier I, Bridgman P.

PLoS One. 2013 Jul 2;8(7):e68504. doi: 10.1371/journal.pone.0068504. Print 2013.

3.

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy.

Lopes LR, Murphy C, Syrris P, Dalageorgou C, McKenna WJ, Elliott PM, Plagnol V.

Eur J Med Genet. 2015 Nov;58(11):611-6. doi: 10.1016/j.ejmg.2015.10.001. Epub 2015 Oct 9.

PMID:
26455666
4.

Psychology of earthquake-induced stress cardiomyopathy, myocardial infarction and non-cardiac chest pain.

Zarifeh JA, Mulder RT, Kerr AJ, Chan CW, Bridgman PG.

Intern Med J. 2012 Apr;42(4):369-73. doi: 10.1111/j.1445-5994.2012.02743.x.

PMID:
22356536
5.

Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.

Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF.

Mol Psychiatry. 2013 Nov;18(11):1178-84. doi: 10.1038/mp.2013.98. Epub 2013 Aug 13.

6.

One-year follow-up of the 2011 Christchurch Earthquake stress cardiomyopathy cases.

Chan C, Troughton R, Elliott J, Zarifeh J, Bridgman P.

N Z Med J. 2014 Jun 20;127(1396):15-22.

PMID:
24997460
7.

Copy number variation in Fayoumi and Leghorn chickens analyzed using array comparative genomic hybridization.

Abernathy J, Li X, Jia X, Chou W, Lamont SJ, Crooijmans R, Zhou H.

Anim Genet. 2014 Jun;45(3):400-11. doi: 10.1111/age.12141. Epub 2014 Mar 15.

PMID:
24628374
8.

Combinatorial approach to estimate copy number genotype using whole-exome sequencing data.

Hwang MY, Moon S, Heo L, Kim YJ, Oh JH, Kim YJ, Kim YK, Lee J, Han BG, Kim BJ.

Genomics. 2015 Mar;105(3):145-9. doi: 10.1016/j.ygeno.2014.12.003. Epub 2014 Dec 20.

9.

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.

10.

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR.

Hum Mol Genet. 2013 Mar 15;22(6):1097-111. doi: 10.1093/hmg/dds515. Epub 2012 Dec 7.

11.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E.

BMC Med Genet. 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82.

12.

Ongoing adverse mental health impact of the earthquake sequence in Christchurch, New Zealand.

Spittlehouse JK, Joyce PR, Vierck E, Schluter PJ, Pearson JF.

Aust N Z J Psychiatry. 2014 Aug;48(8):756-63. doi: 10.1177/0004867414527522. Epub 2014 Mar 12.

PMID:
24622978
13.

High-resolution copy number variation analysis of schizophrenia in Japan.

Kushima I, Aleksic B, Nakatochi M, Shimamura T, Shiino T, Yoshimi A, Kimura H, Takasaki Y, Wang C, Xing J, Ishizuka K, Oya-Ito T, Nakamura Y, Arioka Y, Maeda T, Yamamoto M, Yoshida M, Noma H, Hamada S, Morikawa M, Uno Y, Okada T, Iidaka T, Iritani S, Yamamoto T, Miyashita M, Kobori A, Arai M, Itokawa M, Cheng MC, Chuang YA, Chen CH, Suzuki M, Takahashi T, Hashimoto R, Yamamori H, Yasuda Y, Watanabe Y, Nunokawa A, Someya T, Ikeda M, Toyota T, Yoshikawa T, Numata S, Ohmori T, Kunimoto S, Mori D, Iwata N, Ozaki N.

Mol Psychiatry. 2017 Mar;22(3):430-440. doi: 10.1038/mp.2016.88. Epub 2016 May 31.

PMID:
27240532
14.

Genomic characteristics of miscarriage copy number variants.

Bagheri H, Mercier E, Qiao Y, Stephenson MD, Rajcan-Separovic E.

Mol Hum Reprod. 2015 Aug;21(8):655-61. doi: 10.1093/molehr/gav030. Epub 2015 Jun 12.

15.

Impact of the Christchurch earthquakes on hospital staff.

Tovaranonte P, Cawood TJ.

Prehosp Disaster Med. 2013 Jun;28(3):245-50. doi: 10.1017/S1049023X1300023X. Epub 2013 Mar 26.

PMID:
23531433
16.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR.

Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17.

17.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

18.

The effect of algorithms on copy number variant detection.

Tsuang DW, Millard SP, Ely B, Chi P, Wang K, Raskind WH, Kim S, Brkanac Z, Yu CE.

PLoS One. 2010 Dec 30;5(12):e14456. doi: 10.1371/journal.pone.0014456.

19.

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

Retterer K, Scuffins J, Schmidt D, Lewis R, Pineda-Alvarez D, Stafford A, Schmidt L, Warren S, Gibellini F, Kondakova A, Blair A, Bale S, Matyakhina L, Meck J, Aradhya S, Haverfield E.

Genet Med. 2015 Aug;17(8):623-9. doi: 10.1038/gim.2014.160. Epub 2014 Nov 6.

PMID:
25356966
20.

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.

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