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Items: 19

1.

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK.

Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4.

2.

Genomic rearrangements in inherited disease and cancer.

Chen JM, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos GP.

Semin Cancer Biol. 2010 Aug;20(4):222-33. doi: 10.1016/j.semcancer.2010.05.007. Epub 2010 Jun 9. Review.

PMID:
20541013
3.

Biochemical mechanisms of chromosomal translocations resulting from DNA double-strand breaks.

Povirk LF.

DNA Repair (Amst). 2006 Sep 8;5(9-10):1199-212. Epub 2006 Jul 5. Review.

PMID:
16822725
4.

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Shaw CJ, Lupski JR.

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. Epub 2004 Feb 5. Review.

5.

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

Emanuel BS.

Dev Disabil Res Rev. 2008;14(1):11-8. doi: 10.1002/ddrr.3. Review.

6.

Gross deletions and translocations in human genetic disease.

Abeysinghe SS, Chuzhanova N, Cooper DN.

Genome Dyn. 2006;1:17-34. doi: 10.1159/000092498. Review.

PMID:
18724051
7.

Chromatin structural elements and chromosomal translocations in leukemia.

Zhang Y, Rowley JD.

DNA Repair (Amst). 2006 Sep 8;5(9-10):1282-97. Epub 2006 Aug 7. Review.

PMID:
16893685
8.

Inverted duplications deletions: underdiagnosed rearrangements??

Zuffardi O, Bonaglia M, Ciccone R, Giorda R.

Clin Genet. 2009 Jun;75(6):505-13. doi: 10.1111/j.1399-0004.2009.01187.x. Review.

PMID:
19508415
9.

Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Weckselblatt B, Rudd MK.

Trends Genet. 2015 Oct;31(10):587-99. doi: 10.1016/j.tig.2015.05.010. Epub 2015 Jul 22. Review.

PMID:
26209074
10.

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P.

PLoS Genet. 2005 Dec;1(6):e49. Review.

11.

Subtelomeric rearrangements as neutral genomic polymorphisms.

Hengstschläger M, Prusa A, Repa C, Deutinger J, Pollak A, Bernaschek G.

Am J Med Genet A. 2005 Feb 15;133A(1):48-52. Review.

PMID:
15637704
12.

Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.

Tauchi H, Matsuura S, Kobayashi J, Sakamoto S, Komatsu K.

Oncogene. 2002 Dec 16;21(58):8967-80. Review.

13.

Complex human chromosomal and genomic rearrangements.

Zhang F, Carvalho CM, Lupski JR.

Trends Genet. 2009 Jul;25(7):298-307. doi: 10.1016/j.tig.2009.05.005. Epub 2009 Jun 25. Review.

14.

[An analysis of chromosomal telometric regions in diagnosis of genetic disorders].

Bocian E.

Med Wieku Rozwoj. 2001 Jul-Sep;5(3):213-28. Review. Polish.

PMID:
12004156
15.

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

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

Fertil Steril. 2014 Dec;102(6):1785-96. doi: 10.1016/j.fertnstert.2014.09.006. Epub 2014 Oct 18. Review.

PMID:
25439810
17.

The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development.

de Pagter MS, Kloosterman WP.

Recent Results Cancer Res. 2015;200:165-93. doi: 10.1007/978-3-319-20291-4_8. Review.

PMID:
26376877
18.

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Poot M, Haaf T.

Mol Syndromol. 2015 Sep;6(3):110-34. doi: 10.1159/000438812. Epub 2015 Aug 15. Review.

19.

The impact of chromosomal rearrangements on regulation of gene expression.

Harewood L, Fraser P.

Hum Mol Genet. 2014 Sep 15;23(R1):R76-82. doi: 10.1093/hmg/ddu278. Epub 2014 Jun 6. Review.

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