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Items: 1 to 20 of 125

1.

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC.

Am J Hum Genet. 2017 Aug 3;101(2):206-217. doi: 10.1016/j.ajhg.2017.06.011. Epub 2017 Jul 20.

PMID:
28735859
2.

Sensitive Tumorigenic Potential Evaluation of Adult Human Multipotent Neural Cells Immortalized by hTERT Gene Transduction.

Lee KH, Nam H, Jeong da E, Kim SS, Song HJ, Pyeon HJ, Kang K, Hong SC, Nam DH, Joo KM.

PLoS One. 2016 Jul 8;11(7):e0158639. doi: 10.1371/journal.pone.0158639. eCollection 2016.

3.

Differential frequency of NKG2C/KLRC2 deletion in distinct African populations and susceptibility to Trachoma: a new method for imputation of KLRC2 genotypes from SNP genotyping data.

Goncalves A, Makalo P, Joof H, Burr S, Ramadhani A, Massae P, Malisa A, Mtuy T, Derrick T, Last AR, Nabicassa M, Cassama E, Houghton J, Palmer CD, Pickering H, Burton MJ, Mabey DC, Bailey RL, Goodier MR, Holland MJ, Roberts CH.

Hum Genet. 2016 Aug;135(8):939-51. doi: 10.1007/s00439-016-1694-2. Epub 2016 Jun 16.

4.

How far from the SNP may the causative genes be?

Brodie A, Azaria JR, Ofran Y.

Nucleic Acids Res. 2016 Jul 27;44(13):6046-54. doi: 10.1093/nar/gkw500. Epub 2016 Jun 6.

5.

Assessment of PAX6 alleles in 66 families with aniridia.

Bobilev AM, McDougal ME, Taylor WL, Geisert EE, Netland PA, Lauderdale JD.

Clin Genet. 2016 Jun;89(6):669-77. doi: 10.1111/cge.12708. Epub 2016 Jan 25.

6.

Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds.

Boussaha M, Esquerré D, Barbieri J, Djari A, Pinton A, Letaief R, Salin G, Escudié F, Roulet A, Fritz S, Samson F, Grohs C, Bernard M, Klopp C, Boichard D, Rocha D.

PLoS One. 2015 Aug 28;10(8):e0135931. doi: 10.1371/journal.pone.0135931. eCollection 2015.

7.

A genome-wide assessment of rare copy number variants in colorectal cancer.

Li Z, Yu D, Gan M, Shan Q, Yin X, Tang S, Zhang S, Shi Y, Zhu Y, Lai M, Zhang D.

Oncotarget. 2015 Sep 22;6(28):26411-23. doi: 10.18632/oncotarget.4621.

8.

The impact of human copy number variation on gene expression.

Gamazon ER, Stranger BE.

Brief Funct Genomics. 2015 Sep;14(5):352-7. doi: 10.1093/bfgp/elv017. Epub 2015 Apr 27. Review.

9.

Haplotype phasing and inheritance of copy number variants in nuclear families.

Palta P, Kaplinski L, Nagirnaja L, Veidenberg A, Möls M, Nelis M, Esko T, Metspalu A, Laan M, Remm M.

PLoS One. 2015 Apr 8;10(4):e0122713. doi: 10.1371/journal.pone.0122713. eCollection 2015.

10.

Identification and functional characterization of copy number variations in diverse chicken breeds.

Han R, Yang P, Tian Y, Wang D, Zhang Z, Wang L, Li Z, Jiang R, Kang X.

BMC Genomics. 2014 Oct 25;15:934. doi: 10.1186/1471-2164-15-934.

11.

Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.

Alanazi M, Al-Arfaj AS, Abduljaleel Z, Fahad Al-Arfaj H, Reddy Parine N, Purusottapatnam Shaik J, Khan Z, Ali Khan Pathan A.

Biomed Res Int. 2014;2014:290325. doi: 10.1155/2014/290325. Epub 2014 Jul 9.

12.

Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome.

Kuhn A, Ong YM, Cheng CY, Wong TY, Quake SR, Burkholder WF.

Proc Natl Acad Sci U S A. 2014 Jun 3;111(22):8131-6. doi: 10.1073/pnas.1401532111. Epub 2014 May 20.

13.

Genome-wide copy number variations in Oryza sativa L.

Yu P, Wang CH, Xu Q, Feng Y, Yuan XP, Yu HY, Wang YP, Tang SX, Wei XH.

BMC Genomics. 2013 Sep 23;14:649. doi: 10.1186/1471-2164-14-649.

14.

Large scale variation in DNA copy number in chicken breeds.

Crooijmans RP, Fife MS, Fitzgerald TW, Strickland S, Cheng HH, Kaiser P, Redon R, Groenen MA.

BMC Genomics. 2013 Jun 13;14:398. doi: 10.1186/1471-2164-14-398.

15.

Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility.

Rogers AJ, Chu JH, Darvishi K, Ionita-Laza I, Lehmann H, Mills R, Lee C, Raby BA.

Clin Exp Allergy. 2013 Apr;43(4):455-62. doi: 10.1111/cea.12060.

16.

Massive screening of copy number population-scale variation in Bos taurus genome.

Cicconardi F, Chillemi G, Tramontano A, Marchitelli C, Valentini A, Ajmone-Marsan P, Nardone A.

BMC Genomics. 2013 Feb 26;14:124. doi: 10.1186/1471-2164-14-124.

17.

Whole-genome detection of disease-associated deletions or excess homozygosity in a case-control study of rheumatoid arthritis.

Wu CC, Shete S, Jo EJ, Xu Y, Lu EY, Chen WV, Amos CI.

Hum Mol Genet. 2013 Mar 15;22(6):1249-61. doi: 10.1093/hmg/dds512. Epub 2012 Dec 6.

18.

Assessing the risks of genotoxicity in the therapeutic development of induced pluripotent stem cells.

Hong SG, Dunbar CE, Winkler T.

Mol Ther. 2013 Feb;21(2):272-81. doi: 10.1038/mt.2012.255. Epub 2012 Dec 4. Review.

19.

A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.

Marotta M, Chen X, Inoshita A, Stephens R, Budd GT, Crowe JP, Lyons J, Kondratova A, Tubbs R, Tanaka H.

Breast Cancer Res. 2012 Nov 26;14(6):R150. doi: 10.1186/bcr3362.

20.

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.

Zhao J, Yuan Y, Chen J, Huang S, Wang G, Han D, Dai P.

J Transl Med. 2012 May 2;10:82. doi: 10.1186/1479-5876-10-82.

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