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Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
Hum Mol Genet. 2004 Nov 1;13(21):2613-24. doi: 10.1093/hmg/ddh288. Epub 2004 Sep 30.
Hum Mol Genet. 2004.
PMID: 15459175
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
Walz K, Paylor R, Yan J, Bi W, Lupski JR.
Walz K, et al.
J Clin Invest. 2006 Nov;116(11):3035-41. doi: 10.1172/JCI28953. Epub 2006 Oct 5.
J Clin Invest. 2006.
PMID: 17024248
Free PMC article.
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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL.
Tobin JL, et al.
Proc Natl Acad Sci U S A. 2008 May 6;105(18):6714-9. doi: 10.1073/pnas.0707057105. Epub 2008 Apr 28.
Proc Natl Acad Sci U S A. 2008.
PMID: 18443298
Free PMC article.
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