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Items: 1 to 20 of 117

1.

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME.

Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202.

2.

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E.

Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15.

3.

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M, Cuppen E.

Hum Mol Genet. 2011 May 15;20(10):1916-24. doi: 10.1093/hmg/ddr073. Epub 2011 Feb 24.

4.

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.

Weckselblatt B, Hermetz KE, Rudd MK.

Genome Res. 2015 Jul;25(7):937-47. doi: 10.1101/gr.191247.115. Epub 2015 Jun 12.

5.

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF.

Am J Hum Genet. 2011 Apr 8;88(4):469-81. doi: 10.1016/j.ajhg.2011.03.013.

6.

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

D'Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP.

Hum Genet. 2009 Jun;125(5-6):551-63. doi: 10.1007/s00439-009-0650-9. Epub 2009 Mar 7.

PMID:
19271239
7.

High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology.

Simonis M, Klous P, Homminga I, Galjaard RJ, Rijkers EJ, Grosveld F, Meijerink JP, de Laat W.

Nat Methods. 2009 Nov;6(11):837-42. doi: 10.1038/nmeth.1391. Epub 2009 Oct 11.

PMID:
19820713
8.
9.

Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis.

Boeva V, Jouannet S, Daveau R, Combaret V, Pierre-Eugène C, Cazes A, Louis-Brennetot C, Schleiermacher G, Ferrand S, Pierron G, Lermine A, Rio Frio T, Raynal V, Vassal G, Barillot E, Delattre O, Janoueix-Lerosey I.

PLoS One. 2013 Aug 26;8(8):e72182. doi: 10.1371/journal.pone.0072182. eCollection 2013.

10.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6.

PMID:
19505601
11.

Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements.

Holland AJ, Cleveland DW.

Nat Med. 2012 Nov;18(11):1630-8. doi: 10.1038/nm.2988. Epub 2012 Nov 7.

12.

Cytogenetically balanced translocations are associated with focal copy number alterations.

Watson SK, deLeeuw RJ, Horsman DE, Squire JA, Lam WL.

Hum Genet. 2007 Feb;120(6):795-805. Epub 2006 Oct 19.

PMID:
17051368
13.

Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.

Gajecka M, Glotzbach CD, Shaffer LG.

Chromosome Res. 2006;14(3):277-82. Epub 2006 Apr 20.

PMID:
16628498
14.

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.

15.

[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements].

Pellestor F, Gatinois V, Puechberty J, Geneviève D, Lefort G.

Med Sci (Paris). 2014 Mar;30(3):266-73. doi: 10.1051/medsci/20143003014. Epub 2014 Mar 31. Review. French.

16.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP.

J Med Genet. 2005 Jan;42(1):8-16.

17.

Formation of complex and unstable chromosomal translocations in yeast.

Schmidt KH, Viebranz E, Doerfler L, Lester C, Rubenstein A.

PLoS One. 2010 Aug 9;5(8):e12007. doi: 10.1371/journal.pone.0012007.

18.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA.

Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11.

PMID:
20542150
19.

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH.

Eur J Hum Genet. 2010 May;18(5):539-43. doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2.

20.

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.

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