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Results: 1 to 20 of 102

1.

Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.

Cardoso-Moreira M, Arguello JR, Clark AG.

Genome Biol. 2012 Dec 22;13(12):R119. doi: 10.1186/gb-2012-13-12-r119.

PMID:
23259534
[PubMed - in process]
Free PMC Article
2.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P.

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

PMID:
19578123
[PubMed - indexed for MEDLINE]
Free Article
3.

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME.

Nat Genet. 2010 May;42(5):385-91. doi: 10.1038/ng.564. Epub 2010 Apr 4.

PMID:
20364136
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Origins and breakpoint analyses of copy number variations: up close and personal.

van Binsbergen E.

Cytogenet Genome Res. 2011;135(3-4):271-6. doi: 10.1159/000330267. Epub 2011 Aug 12. Review.

PMID:
21846967
[PubMed - indexed for MEDLINE]
5.

Copy number variants are produced in response to low-dose ionizing radiation in cultured cells.

Arlt MF, Rajendran S, Birkeland SR, Wilson TE, Glover TW.

Environ Mol Mutagen. 2014 Mar;55(2):103-13. doi: 10.1002/em.21840. Epub 2013 Dec 10.

PMID:
24327335
[PubMed - indexed for MEDLINE]
6.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E.

PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14.

PMID:
23516377
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Small deletion variants have stable breakpoints commonly associated with alu elements.

de Smith AJ, Walters RG, Coin LJ, Steinfeld I, Yakhini Z, Sladek R, Froguel P, Blakemore AI.

PLoS One. 2008 Aug 29;3(8):e3104. doi: 10.1371/journal.pone.0003104.

PMID:
18769679
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.

Korbel JO, Urban AE, Grubert F, Du J, Royce TE, Starr P, Zhong G, Emanuel BS, Weissman SM, Snyder M, Gerstein MB.

Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):10110-5. Epub 2007 Jun 5.

PMID:
17551006
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome.

Quinlan AR, Clark RA, Sokolova S, Leibowitz ML, Zhang Y, Hurles ME, Mell JC, Hall IM.

Genome Res. 2010 May;20(5):623-35. doi: 10.1101/gr.102970.109. Epub 2010 Mar 22.

PMID:
20308636
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Tandem repeats and G-rich sequences are enriched at human CNV breakpoints.

Bose P, Hermetz KE, Conneely KN, Rudd MK.

PLoS One. 2014 Jul 1;9(7):e101607. doi: 10.1371/journal.pone.0101607. eCollection 2014.

PMID:
24983241
[PubMed - in process]
Free PMC Article
11.

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing.

Abyzov A, Urban AE, Snyder M, Gerstein M.

Genome Res. 2011 Jun;21(6):974-84. doi: 10.1101/gr.114876.110. Epub 2011 Feb 7.

PMID:
21324876
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Novel origins of copy number variation in the dog genome.

Berglund J, Nevalainen EM, Molin AM, Perloski M; LUPA Consortium, André C, Zody MC, Sharpe T, Hitte C, Lindblad-Toh K, Lohi H, Webster MT.

Genome Biol. 2012 Aug 23;13(8):R73. doi: 10.1186/gb-2012-13-8-r73.

PMID:
22916802
[PubMed - in process]
Free PMC Article
13.

Hydroxyurea induces de novo copy number variants in human cells.

Arlt MF, Ozdemir AC, Birkeland SR, Wilson TE, Glover TW.

Proc Natl Acad Sci U S A. 2011 Oct 18;108(42):17360-5. doi: 10.1073/pnas.1109272108. Epub 2011 Oct 10.

PMID:
21987784
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique.

You GL, Ding QL, Lu YL, Dai J, Xi XD, Wang XF, Wang HL.

J Thromb Haemost. 2013 Jun;11(6):1103-10. doi: 10.1111/jth.12205.

PMID:
23551875
[PubMed - indexed for MEDLINE]
15.

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.

Malhotra A, Lindberg M, Faust GG, Leibowitz ML, Clark RA, Layer RM, Quinlan AR, Hall IM.

Genome Res. 2013 May;23(5):762-76. doi: 10.1101/gr.143677.112. Epub 2013 Feb 14.

PMID:
23410887
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
22194928
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history.

Kim PM, Lam HY, Urban AE, Korbel JO, Affourtit J, Grubert F, Chen X, Weissman S, Snyder M, Gerstein MB.

Genome Res. 2008 Dec;18(12):1865-74. doi: 10.1101/gr.081422.108. Epub 2008 Oct 8.

PMID:
18842824
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Genome Biol. 2014 Jun 2;15(6):R80. doi: 10.1186/gb-2014-15-6-r80.

PMID:
24958239
[PubMed - in process]
19.

Accurate and exact CNV identification from targeted high-throughput sequence data.

Nord AS, Lee M, King MC, Walsh T.

BMC Genomics. 2011 Apr 12;12:184. doi: 10.1186/1471-2164-12-184.

PMID:
21486468
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.

Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20.

PMID:
20493460
[PubMed - indexed for MEDLINE]
Free PMC Article

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