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Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. Mullegama SV, et al. Among authors: deignan jl. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.146. Epub 2017 Sep 21. Genet Med. 2017. PMID: 28933790 Free article. No abstract available.
Ornithine deficiency in the arginase double knockout mouse.
Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Deignan JL, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):87-96. doi: 10.1016/j.ymgme.2006.04.007. Epub 2006 Jun 5. Mol Genet Metab. 2006. PMID: 16753325
Polyamine homeostasis in arginase knockout mice.
Deignan JL, Livesay JC, Shantz LM, Pegg AE, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Deignan JL, et al. Am J Physiol Cell Physiol. 2007 Oct;293(4):C1296-301. doi: 10.1152/ajpcell.00393.2006. Epub 2007 Aug 8. Am J Physiol Cell Physiol. 2007. PMID: 17686999 Free article.
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks.
Yang X, Deignan JL, Qi H, Zhu J, Qian S, Zhong J, Torosyan G, Majid S, Falkard B, Kleinhanz RR, Karlsson J, Castellani LW, Mumick S, Wang K, Xie T, Coon M, Zhang C, Estrada-Smith D, Farber CR, Wang SS, van Nas A, Ghazalpour A, Zhang B, Macneil DJ, Lamb JR, Dipple KM, Reitman ML, Mehrabian M, Lum PY, Schadt EE, Lusis AJ, Drake TA. Yang X, et al. Among authors: deignan jl. Nat Genet. 2009 Apr;41(4):415-23. doi: 10.1038/ng.325. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270708 Free PMC article.
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD. Quintero-Rivera F, et al. Among authors: deignan jl. Mol Genet Metab. 2010 Dec;101(4):413-6. doi: 10.1016/j.ymgme.2010.08.008. Epub 2010 Aug 14. Mol Genet Metab. 2010. PMID: 20817516
61 results