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Items: 1 to 20 of 108

1.
2.

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.

Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X.

Hum Mol Genet. 2003 Sep 1;12(17):2201-8. Epub 2003 Jul 8.

PMID:
12915466
3.

Segmental duplications and copy-number variation in the human genome.

Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE.

Am J Hum Genet. 2005 Jul;77(1):78-88. Epub 2005 May 25.

4.

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.

Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW.

Genome Biol. 2003;4(4):R25. Epub 2003 Mar 17.

5.

Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.

Uddin M, Sturge M, Peddle L, O'Rielly DD, Rahman P.

PLoS One. 2011;6(12):e28853. doi: 10.1371/journal.pone.0028853. Epub 2011 Dec 14.

6.

Recent segmental duplications in the human genome.

Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE.

Science. 2002 Aug 9;297(5583):1003-7.

7.

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

Jiang Z, Tang H, Ventura M, Cardone MF, Marques-Bonet T, She X, Pevzner PA, Eichler EE.

Nat Genet. 2007 Nov;39(11):1361-8. Epub 2007 Oct 7.

PMID:
17922013
8.
9.

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Beri S, Bonaglia MC, Giorda R.

Eur J Hum Genet. 2013 Jul;21(7):757-61. doi: 10.1038/ejhg.2012.235. Epub 2012 Oct 17.

10.

Patterns of segmental duplication in the human genome.

Zhang L, Lu HH, Chung WY, Yang J, Li WH.

Mol Biol Evol. 2005 Jan;22(1):135-41. Epub 2004 Sep 15.

PMID:
15371527
11.

Recent duplication, domain accretion and the dynamic mutation of the human genome.

Eichler EE.

Trends Genet. 2001 Nov;17(11):661-9. Review.

PMID:
11672867
12.

Structure of chromosomal duplicons and their role in mediating human genomic disorders.

Ji Y, Eichler EE, Schwartz S, Nicholls RD.

Genome Res. 2000 May;10(5):597-610. Review.

13.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.

PMID:
16906162
14.
16.

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2006 Jul 15;15(14):2250-65. Epub 2006 Jun 14.

PMID:
16774974
17.

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H.

Hum Genet. 2006 Sep;120(2):270-84. Epub 2006 Jul 13.

PMID:
16838144
18.

Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.

Peng Z, Zhou W, Fu W, Du R, Jin L, Zhang F.

Hum Mol Genet. 2015 Mar 1;24(5):1225-33. doi: 10.1093/hmg/ddu533. Epub 2014 Oct 16.

PMID:
25324539
19.

On the structural plasticity of the human genome: chromosomal inversions revisited.

Alves JM, Lopes AM, Chikhi L, Amorim A.

Curr Genomics. 2012 Dec;13(8):623-32. doi: 10.2174/138920212803759703.

20.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

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