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Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R. Basel-Vanagaite L, et al. Among authors: simon aj. Am J Hum Genet. 2012 Jan 13;90(1):49-60. doi: 10.1016/j.ajhg.2011.11.028. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226083 Free PMC article.
Nuclear envelopathies--raising the nuclear veil.
Somech R, Shaklai S, Amariglio N, Rechavi G, Simon AJ. Somech R, et al. Among authors: simon aj. Pediatr Res. 2005 May;57(5 Pt 2):8R-15R. doi: 10.1203/01.PDR.0000159566.54287.6C. Epub 2005 Apr 6. Pediatr Res. 2005. PMID: 15817509 Review.
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: simon aj. J Med Genet. 2006 Mar;43(3):203-10. doi: 10.1136/jmg.2005.035709. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033914 Free PMC article.
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: simon aj. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902. Ann Neurol. 2006. PMID: 16786527
Gene silencing at the nuclear periphery.
Shaklai S, Amariglio N, Rechavi G, Simon AJ. Shaklai S, et al. Among authors: simon aj. FEBS J. 2007 Mar;274(6):1383-92. doi: 10.1111/j.1742-4658.2007.05697.x. FEBS J. 2007. PMID: 17489096 Free article. Review.
236 results