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Items: 1 to 20 of 181

1.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR.

Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078.

2.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebou├žas CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P.

Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010.

3.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR.

Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146.

4.

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

Newman S, Hermetz KE, Weckselblatt B, Rudd MK.

Am J Hum Genet. 2015 Feb 5;96(2):208-20. doi: 10.1016/j.ajhg.2014.12.017.

5.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.

Genome Res. 2008 Jun;18(6):847-58. doi: 10.1101/gr.075903.107.

6.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.

Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001.

7.

A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.

Marotta M, Chen X, Inoshita A, Stephens R, Budd GT, Crowe JP, Lyons J, Kondratova A, Tubbs R, Tanaka H.

Breast Cancer Res. 2012 Nov 26;14(6):R150. doi: 10.1186/bcr3362.

8.

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
9.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125.

10.

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM.

Am J Hum Genet. 2005 Dec;77(6):966-87.

11.

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.

PMID:
19271239
12.

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A.

Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217.

13.

Large inverted duplications in the human genome form via a fold-back mechanism.

Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD, Rudd MK.

PLoS Genet. 2014 Jan 30;10(1):e1004139. doi: 10.1371/journal.pgen.1004139.

14.

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.

15.

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.

16.

Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.

Ben Khelifa H, Soyah N, Ben-Abdallah-Bouhjar I, Gritly R, Sanlaville D, Elghezal H, Saad A, Mougou-Zerelli S.

Gene. 2013 Sep 25;527(2):578-83. doi: 10.1016/j.gene.2013.06.018.

PMID:
23791652
17.
18.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR.

Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9.

19.

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR.

Am J Hum Genet. 2014 Mar 6;94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017.

20.

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.

Eur J Hum Genet. 2011 Apr;19(4):409-15. doi: 10.1038/ejhg.2010.195. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1110.

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