R01 DEO15210/PHS HHS/United States[Grants and Funding] - Search Results

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Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.

Yan J, Bi W, Lupski JR. Yan J, et al. Am J Hum Genet. 2007 Mar;80(3):518-25. doi: 10.1086/512043. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273973 Free PMC article.

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR. Bi W, et al. Hum Mol Genet. 2007 Aug 1;16(15):1802-13. doi: 10.1093/hmg/ddm128. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517686

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