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A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. Kenny EE, et al. Among authors: desnick rj. PLoS Genet. 2012;8(3):e1002559. doi: 10.1371/journal.pgen.1002559. Epub 2012 Mar 8. PLoS Genet. 2012. PMID: 22412388 Free PMC article.
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Tukel T, et al. Among authors: desnick rj. Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009. Am J Hum Genet. 2010. PMID: 20691403 Free PMC article.
601 results