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Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27.
Am J Hum Genet. 2009.
PMID: 19716111
Free PMC article.
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L.
Gervasini C, et al.
Eur J Hum Genet. 2010 Jul;18(7):768-75. doi: 10.1038/ejhg.2010.1. Epub 2010 Feb 3.
Eur J Hum Genet. 2010.
PMID: 20125191
Free PMC article.
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Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O.
Iascone M, et al.
Clin Genet. 2012 Jun;81(6):542-54. doi: 10.1111/j.1399-0004.2011.01674.x. Epub 2011 Apr 25.
Clin Genet. 2012.
PMID: 21457232
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