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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: zhang f. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.
A preliminary study of copy number variation in Tibetans.
Zhang YB, Li X, Zhang F, Wang DM, Yu J. Zhang YB, et al. Among authors: zhang f. PLoS One. 2012;7(7):e41768. doi: 10.1371/journal.pone.0041768. Epub 2012 Jul 23. PLoS One. 2012. PMID: 22844521 Free PMC article.
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Ruark E, Seal S, McDonald H, Zhang F, Elliot A, Lau K, Perdeaux E, Rapley E, Eeles R, Peto J, Kote-Jarai Z, Muir K, Nsengimana J, Shipley J; UK Testicular Cancer Collaboration (UKTCC); Bishop DT, Stratton MR, Easton DF, Huddart RA, Rahman N, Turnbull C. Ruark E, et al. Among authors: zhang f. Nat Genet. 2013 Jun;45(6):686-9. doi: 10.1038/ng.2635. Epub 2013 May 12. Nat Genet. 2013. PMID: 23666240 Free PMC article.
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
Zhang L, Choi HJ, Estrada K, Leo PJ, Li J, Pei YF, Zhang Y, Lin Y, Shen H, Liu YZ, Liu Y, Zhao Y, Zhang JG, Tian Q, Wang YP, Han Y, Ran S, Hai R, Zhu XZ, Wu S, Yan H, Liu X, Yang TL, Guo Y, Zhang F, Guo YF, Chen Y, Chen X, Tan L, Zhang L, Deng FY, Deng H, Rivadeneira F, Duncan EL, Lee JY, Han BG, Cho NH, Nicholson GC, McCloskey E, Eastell R, Prince RL, Eisman JA, Jones G, Reid IR, Sambrook PN, Dennison EM, Danoy P, Yerges-Armstrong LM, Streeten EA, Hu T, Xiang S, Papasian CJ, Brown MA, Shin CS, Uitterlinden AG, Deng HW. Zhang L, et al. Among authors: zhang f, zhang jg, zhang y. Hum Mol Genet. 2014 Apr 1;23(7):1923-33. doi: 10.1093/hmg/ddt575. Epub 2013 Nov 17. Hum Mol Genet. 2014. PMID: 24249740 Free PMC article.
Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations.
Ganesh SK, Chasman DI, Larson MG, Guo X, Verwoert G, Bis JC, Gu X, Smith AV, Yang ML, Zhang Y, Ehret G, Rose LM, Hwang SJ, Papanicolau GJ, Sijbrands EJ, Rice K, Eiriksdottir G, Pihur V, Ridker PM, Vasan RS, Newton-Cheh C; Global Blood Pressure Genetics Consortium; Raffel LJ, Amin N, Rotter JI, Liu K, Launer LJ, Xu M, Caulfield M, Morrison AC, Johnson AD, Vaidya D, Dehghan A, Li G, Bouchard C, Harris TB, Zhang H, Boerwinkle E, Siscovick DS, Gao W, Uitterlinden AG, Rivadeneira F, Hofman A, Willer CJ, Franco OH, Huo Y, Witteman JC, Munroe PB, Gudnason V, Palmas W, van Duijn C, Fornage M, Levy D, Psaty BM, Chakravarti A. Ganesh SK, et al. Among authors: zhang h, zhang y. Am J Hum Genet. 2014 Jul 3;95(1):49-65. doi: 10.1016/j.ajhg.2014.06.002. Epub 2014 Jun 26. Am J Hum Genet. 2014. PMID: 24975945 Free PMC article.
Progress and perspective of TBX6 gene in congenital vertebral malformations.
Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z. Chen W, et al. Among authors: zhang f. Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Oncotarget. 2016. PMID: 27437870 Free PMC article. Review.
Assessing genome-wide copy number variation in the Han Chinese population.
Lu J, Lou H, Fu R, Lu D, Zhang F, Wu Z, Zhang X, Li C, Fang B, Pu F, Wei J, Wei Q, Zhang C, Wang X, Lu Y, Yan S, Yang Y, Jin L, Xu S. Lu J, et al. Among authors: zhang c, zhang f, zhang x. J Med Genet. 2017 Oct;54(10):685-692. doi: 10.1136/jmedgenet-2017-104613. Epub 2017 Jul 13. J Med Genet. 2017. PMID: 28705883
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