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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: choufani s. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
Platelet activating factor receptors.
Marrache AM, Gobeil F Jr, Bernier SG, Stankova J, Rola-Pleszczynski M, Choufani S, Bkaily G, Bourdeau A, Sirois MG, Vazquez-Tello A, Fan L, Joyal JS, Filep JG, Varma DR, Ribeiro-Da-silva A, Chemtob S. Marrache AM, et al. Among authors: choufani s. Adv Exp Med Biol. 2003;525:161-4. doi: 10.1007/978-1-4419-9194-2_33. Adv Exp Med Biol. 2003. PMID: 12751758 No abstract available.
Regulation of eNOS expression in brain endothelial cells by perinuclear EP(3) receptors.
Gobeil F Jr, Dumont I, Marrache AM, Vazquez-Tello A, Bernier SG, Abran D, Hou X, Beauchamp MH, Quiniou C, Bouayad A, Choufani S, Bhattacharya M, Molotchnikoff S, Ribeiro-Da-Silva A, Varma DR, Bkaily G, Chemtob S. Gobeil F Jr, et al. Among authors: choufani s. Circ Res. 2002 Apr 5;90(6):682-9. doi: 10.1161/01.res.0000013303.17964.7a. Circ Res. 2002. PMID: 11934836
Growth regulation, imprinted genes, and chromosome 11p15.5.
Smith AC, Choufani S, Ferreira JC, Weksberg R. Smith AC, et al. Among authors: choufani s. Pediatr Res. 2007 May;61(5 Pt 2):43R-47R. doi: 10.1203/pdr.0b013e3180457660. Pediatr Res. 2007. PMID: 17413842 Review.
Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R. Choufani S, et al. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803657 Review.
87 results