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Items: 16


A 14-year-old girl with an unusual combination of incontinentia pigmenti and conversion disorder.

Wang Y, Chen Y, Wang Q, Wang G, Guo C, Wang F, Deng X, Wang W.

Int J Clin Exp Med. 2013 Oct 25;6(10):1006-9. eCollection 2013.


Clinical Utility Gene Card for: incontinentia pigmenti.

Fusco F, Pescatore A, Steffann J, Royer G, Bonnefont JP, Ursini MV.

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.227. Epub 2012 Oct 10. No abstract available.


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. Epub 2012 Oct 11.


Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency.

Temmerman ST, Ma CA, Zhao Y, Keenan J, Aksentijevich I, Fessler M, Brown MR, Knutsen A, Shapiro R, Jain A.

J Clin Invest. 2012 Jan;122(1):315-26. doi: 10.1172/JCI42534. Epub 2011 Dec 12.


The LCR at the IKBKG locus is prone to recombine.

Fusco F, D'Urso M, Miano MG, Ursini MV.

Am J Hum Genet. 2010 Apr 9;86(4):650-2; author reply 652-3. doi: 10.1016/j.ajhg.2009.12.019. No abstract available.


Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G.

Am J Hum Genet. 2009 Dec;85(6):809-22. doi: 10.1016/j.ajhg.2009.10.019.


Mutation analysis in primary immunodeficiency diseases: case studies.

Hsu AP, Fleisher TA, Niemela JE.

Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):517-24. doi: 10.1097/ACI.0b013e3283328f59. Review.


Absence of somatic mutations of NEMO in keratoacanthoma.

Ridd K, Vemula S, Bastian BC.

J Invest Dermatol. 2009 Oct;129(10):2518-20. doi: 10.1038/jid.2009.109. Epub 2009 Apr 30. No abstract available.


Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR.

Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26.


Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, Orange JS.

J Allergy Clin Immunol. 2008 Dec;122(6):1169-1177.e16. doi: 10.1016/j.jaci.2008.08.018. Epub 2008 Oct 11.


Global variation in copy number in the human genome.

Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME.

Nature. 2006 Nov 23;444(7118):444-54.


Characterization of a cancer/testis (CT) antigen gene family capable of eliciting humoral response in cancer patients.

Parmigiani RB, Bettoni F, Vibranovski MD, Lopes MH, Martins WK, Cunha IW, Soares FA, Simpson AJ, de Souza SJ, Camargo AA.

Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18066-71. Epub 2006 Nov 17.


Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots.

Hurles ME, Willey D, Matthews L, Hussain SS.

Genome Biol. 2004;5(8):R55. Epub 2004 Jul 14.


Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.

Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S.

Am J Hum Genet. 2002 Oct;71(4):906-22. Epub 2002 Sep 20.

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