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Items: 1 to 20 of 51


DNA secondary structure at chromosomal fragile sites in human disease.

Thys RG, Lehman CE, Pierce LC, Wang YH.

Curr Genomics. 2015 Feb;16(1):60-70. doi: 10.2174/1389202916666150114223205.


Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H.

Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. eCollection 2014.


The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-44. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Review.


Impact of alternative DNA structures on DNA damage, DNA repair, and genetic instability.

Wang G, Vasquez KM.

DNA Repair (Amst). 2014 Jul;19:143-51. doi: 10.1016/j.dnarep.2014.03.017. Epub 2014 Apr 21. Review.


Competitive superhelical transitions involving cruciform extrusion.

Zhabinskaya D, Benham CJ.

Nucleic Acids Res. 2013 Nov;41(21):9610-21. doi: 10.1093/nar/gkt733. Epub 2013 Aug 22.


Fragile DNA motifs trigger mutagenesis at distant chromosomal loci in saccharomyces cerevisiae.

Saini N, Zhang Y, Nishida Y, Sheng Z, Choudhury S, Mieczkowski P, Lobachev KS.

PLoS Genet. 2013 Jun;9(6):e1003551. doi: 10.1371/journal.pgen.1003551. Epub 2013 Jun 13.


Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.

Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH.

Hum Mutat. 2013 Sep;34(9):1250-9. doi: 10.1002/humu.22354. Epub 2013 Jun 3.


The yin and yang of repair mechanisms in DNA structure-induced genetic instability.

Vasquez KM, Wang G.

Mutat Res. 2013 Mar-Apr;743-744:118-31. doi: 10.1016/j.mrfmmm.2012.11.005. Epub 2012 Dec 3. Review.


Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

Robberecht C, Voet T, Zamani Esteki M, Nowakowska BA, Vermeesch JR.

Genome Res. 2013 Mar;23(3):411-8. doi: 10.1101/gr.145631.112. Epub 2012 Dec 3.


Chromosomal translocations and palindromic AT-rich repeats.

Kato T, Kurahashi H, Emanuel BS.

Curr Opin Genet Dev. 2012 Jun;22(3):221-8. doi: 10.1016/j.gde.2012.02.004. Epub 2012 Mar 6. Review.


DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

Kato T, Inagaki H, Tong M, Kogo H, Ohye T, Yamada K, Tsutsumi M, Emanuel BS, Kurahashi H.

Mol Cytogenet. 2011 Sep 8;4:18. doi: 10.1186/1755-8166-4-18.


On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM.

Hum Mutat. 2011 Oct;32(10):1075-99. doi: 10.1002/humu.21557. Epub 2011 Sep 2. Review.


Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW.

Genome Res. 2011 Jan;21(1):33-46. doi: 10.1101/gr.111609.110.


Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L.

Hum Mol Genet. 2010 Sep 1;19(17):3383-93. doi: 10.1093/hmg/ddq250. Epub 2010 Jun 22.


The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS.

Clin Genet. 2010 Oct;78(4):299-309. doi: 10.1111/j.1399-0004.2010.01445.x. Review.


Delineating Rearrangements in Single Yeast Artificial Chromosomes by Quantitative DNA Fiber Mapping.

Weier HU, Greulich-Bode KM, Wu J, Duell T.

Open Genomics J. 2009 Oct 9;2:15-23.


Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

Tong M, Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Wang J, Emanuel BS, Kurahashi H.

Hum Mol Genet. 2010 Jul 1;19(13):2630-7. doi: 10.1093/hmg/ddq150. Epub 2010 Apr 13.


The effect of translocation-induced nuclear reorganization on gene expression.

Harewood L, Schütz F, Boyle S, Perry P, Delorenzi M, Bickmore WA, Reymond A.

Genome Res. 2010 May;20(5):554-64. doi: 10.1101/gr.103622.109. Epub 2010 Mar 8.


Paternal origin of the de novo constitutional t(11;22)(q23;q11).

Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H.

Eur J Hum Genet. 2010 Jul;18(7):783-7. doi: 10.1038/ejhg.2010.20. Epub 2010 Feb 24.


Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM.

Am J Med Genet A. 2009 Aug;149A(8):1712-21. doi: 10.1002/ajmg.a.32957.

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