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Items: 1 to 20 of 100

1.

Copy Number Variations in Female Infertility in China.

Huang W, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang Β.

Balkan J Med Genet. 2019 Aug 28;22(1):5-10. doi: 10.2478/bjmg-2019-0005. eCollection 2019 Jun.

2.

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen JS, Mägi R, Kals M, Kivistik PA, Haller-Kikkatalo K, Salumets A, Kurg A.

Hum Reprod. 2016 Aug;31(8):1913-25. doi: 10.1093/humrep/dew142. Epub 2016 Jun 14.

3.

CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.

Onsongo G, Baughn LB, Bower M, Henzler C, Schomaker M, Silverstein KA, Thyagarajan B.

J Mol Diagn. 2016 Nov;18(6):872-881. doi: 10.1016/j.jmoldx.2016.07.001. Epub 2016 Sep 3.

PMID:
27597741
4.

Evaluation of copy number variant detection from panel-based next-generation sequencing data.

Yao R, Yu T, Qing Y, Wang J, Shen Y.

Mol Genet Genomic Med. 2019 Jan;7(1):e00513. doi: 10.1002/mgg3.513. Epub 2018 Nov 22.

5.

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.

Ji H, Lu J, Wang J, Li H, Lin X.

BMC Ear Nose Throat Disord. 2014 Sep 10;14:9. doi: 10.1186/1472-6815-14-9. eCollection 2014.

6.

Recurrent deletions of the X chromosome linked CNV64, CNV67, and CNV69 shows geographic differences across China and no association with idiopathic infertility in men.

Ma X, Kuete M, Gu X, Zhou H, Xiong C, Li H.

PLoS One. 2017 Sep 21;12(9):e0185084. doi: 10.1371/journal.pone.0185084. eCollection 2017.

7.

A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters.

Luo T, Chen HY, Zou QX, Wang T, Cheng YM, Wang HF, Wang F, Jin ZL, Chen Y, Weng SQ, Zeng XH.

Hum Reprod. 2019 Mar 1;34(3):414-423. doi: 10.1093/humrep/dey377.

PMID:
30629171
8.

Noise cancellation using total variation for copy number variation detection.

Zare F, Hosny A, Nabavi S.

BMC Bioinformatics. 2018 Oct 22;19(Suppl 11):361. doi: 10.1186/s12859-018-2332-x.

9.

The impact and origin of copy number variations in the Oryza species.

Bai Z, Chen J, Liao Y, Wang M, Liu R, Ge S, Wing RA, Chen M.

BMC Genomics. 2016 Mar 29;17:261. doi: 10.1186/s12864-016-2589-2.

10.

Global copy number analyses by next generation sequencing provide insight into pig genome variation.

Jiang J, Wang J, Wang H, Zhang Y, Kang H, Feng X, Wang J, Yin Z, Bao W, Zhang Q, Liu JF.

BMC Genomics. 2014 Jul 14;15:593. doi: 10.1186/1471-2164-15-593.

11.

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

Aboura A, Dupas C, Tachdjian G, Portnoï MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B, Bouchard P, Christin-Maitre S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4540-6. doi: 10.1210/jc.2009-0186. Epub 2009 Oct 16.

PMID:
19837940
12.

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A.

Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12.

13.

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

Bansal V, Dorn C, Grunert M, Klaassen S, Hetzer R, Berger F, Sperling SR.

PLoS One. 2014 Jan 6;9(1):e85375. doi: 10.1371/journal.pone.0085375. eCollection 2014.

14.

Integrated Genome-Wide Analysis of Gene Expression and DNA Copy Number Variations Highlights Stem Cell-Related Pathways in Small Cell Esophageal Carcinoma.

Liu D, Xu X, Wen J, Xie L, Zhang J, Shen Y, Jiang G, Chen J, Fan M.

Stem Cells Int. 2018 Aug 30;2018:3481783. doi: 10.1155/2018/3481783. eCollection 2018.

15.

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.

Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, Agrawal SA, Li Y, Daiger SP, Gibbs R, Wang F, Chen R.

BMC Bioinformatics. 2017 Mar 3;18(1):147. doi: 10.1186/s12859-017-1566-3.

16.

Evolutionary and Functional Features of Copy Number Variation in the Cattle Genome.

Keel BN, Lindholm-Perry AK, Snelling WM.

Front Genet. 2016 Nov 22;7:207. eCollection 2016.

17.

Copy number variation analysis based on AluScan sequences.

Yang JF, Ding XF, Chen L, Mat WK, Xu MZ, Chen JF, Wang JM, Xu L, Poon WS, Kwong A, Leung GK, Tan TC, Yu CH, Ke YB, Xu XY, Ke XY, Ma RC, Chan JC, Wan WQ, Zhang LW, Kumar Y, Tsang SY, Li S, Wang HY, Xue H.

J Clin Bioinforma. 2014 Dec 5;4(1):15. doi: 10.1186/s13336-014-0015-z. eCollection 2014.

18.

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Fowler A, Mahamdallie S, Ruark E, Seal S, Ramsay E, Clarke M, Uddin I, Wylie H, Strydom A, Lunter G, Rahman N.

Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1.

19.

Population clustering based on copy number variations detected from next generation sequencing data.

Duan J, Zhang JG, Wan M, Deng HW, Wang YP.

J Bioinform Comput Biol. 2014 Aug;12(4):1450021. doi: 10.1142/S0219720014500218. Epub 2014 Aug 19.

20.

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.

Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K.

Clin Exp Nephrol. 2018 Aug;22(4):881-888. doi: 10.1007/s10157-018-1534-x. Epub 2018 Jan 25.

PMID:
29372472

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