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An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Vergés L, Vidal F, Geán E, Alemany-Schmidt A, Oliver-Bonet M, Blanco J.

Sci Rep. 2017 Jan 6;7:40031. doi: 10.1038/srep40031.


Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D.

Hum Mol Genet. 2016 Sep 1;25(17):3754-3767. doi: 10.1093/hmg/ddw221.


22q11.2 deletion syndrome.

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS.

Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Review.


The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR.

Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014.


The role of retrotransposons in gene family expansions: insights from the mouse Abp gene family.

Janoušek V, Karn RC, Laukaitis CM.

BMC Evol Biol. 2013 May 29;13:107. doi: 10.1186/1471-2148-13-107.


High-resolution fish on DNA fibers for low-copy repeats genome architecture studies.

Molina O, Blanco J, Anton E, Vidal F, Volpi EV.

Genomics. 2012 Dec;100(6):380-6. doi: 10.1016/j.ygeno.2012.08.007.


Transposable elements are a significant contributor to tandem repeats in the human genome.

Ahmed M, Liang P.

Comp Funct Genomics. 2012;2012:947089. doi: 10.1155/2012/947089.


Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J.

Mol Syndromol. 2010;1(5):246-254.


Characterization of the past and current duplication activities in the human 22q11.2 region.

Guo X, Freyer L, Morrow B, Zheng D.

BMC Genomics. 2011 Jan 26;12:71. doi: 10.1186/1471-2164-12-71.


Phenotypic variability and genetic susceptibility to genomic disorders.

Girirajan S, Eichler EE.

Hum Mol Genet. 2010 Oct 15;19(R2):R176-87. doi: 10.1093/hmg/ddq366. Review.


The origins and impact of primate segmental duplications.

Marques-Bonet T, Girirajan S, Eichler EE.

Trends Genet. 2009 Oct;25(10):443-54. doi: 10.1016/j.tig.2009.08.002. Review.


Copy number variation in human health, disease, and evolution.

Zhang F, Gu W, Hurles ME, Lupski JR.

Annu Rev Genomics Hum Genet. 2009;10:451-81. doi: 10.1146/annurev.genom.9.081307.164217. Review.


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. Review.


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.


CNV and nervous system diseases--what's new?

Gu W, Lupski JR.

Cytogenet Genome Res. 2008;123(1-4):54-64. doi: 10.1159/000184692. Review.


Repetitive element-mediated recombination as a mechanism for new gene origination in Drosophila.

Yang S, Arguello JR, Li X, Ding Y, Zhou Q, Chen Y, Zhang Y, Zhao R, Brunet F, Peng L, Long M, Wang W.

PLoS Genet. 2008 Jan;4(1):e3. doi: 10.1371/journal.pgen.0040003.


Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica.

Gentles AJ, Wakefield MJ, Kohany O, Gu W, Batzer MA, Pollock DD, Jurka J.

Genome Res. 2007 Jul;17(7):992-1004.


Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.

BMC Med Genet. 2007 Apr 2;8:14.


AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE.

Genome Res. 2007 Apr;17(4):451-60.

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