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Items: 1 to 20 of 115

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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.

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.

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.

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.

PMID:
17922013
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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.

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.

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.

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.

PMID:
16838144
14.

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.

PMID:
16906162
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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.

PMID:
16774974
18.

Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes.

Mehan MR, Almonte M, Slaten E, Freimer NB, Rao PN, Ophoff RA.

Hum Genet. 2007 Mar;121(1):93-100.

PMID:
17091282
19.

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.

PMID:
25324539
20.

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.

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