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233 results

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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: cox tc, cox ll. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Vissers LE, et al. Among authors: cox tc. PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8. PLoS Genet. 2011. PMID: 21931569 Free PMC article.
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Luquetti DV, et al. Among authors: cox tc. Am J Med Genet A. 2012 Jan;158A(1):124-39. doi: 10.1002/ajmg.a.34352. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106030 Free PMC article. Review.
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. Rieder MJ, et al. Among authors: cox tc. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Am J Hum Genet. 2012. PMID: 22560091 Free PMC article.
Microtomographic analysis of lower urinary tract obstruction.
Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC. Siebert JR, et al. Among authors: cox tc, cox ll. Pediatr Dev Pathol. 2013 Nov-Dec;16(6):405-14. doi: 10.2350/13-08-1359-OA.1. Epub 2013 Aug 26. Pediatr Dev Pathol. 2013. PMID: 23977847 Free PMC article.
Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.
Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Wolf ZT, et al. Among authors: cox tc. PLoS Genet. 2015 Mar 23;11(3):e1005059. doi: 10.1371/journal.pgen.1005059. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25798845 Free PMC article.
233 results