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TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Belostotsky R, et al. Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023. Am J Hum Genet. 2010. PMID: 20797690 Free PMC article.
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.
Sas DJ, Magen D, Hayes W, Shasha-Lavsky H, Michael M, Schulte I, Sellier-Leclerc AL, Lu J, Seddighzadeh A, Habtemariam B, McGregor TL, Fujita KP, Frishberg Y; ILLUMINATE-B Workgroup. Sas DJ, et al. Genet Med. 2022 Mar;24(3):654-662. doi: 10.1016/j.gim.2021.10.024. Epub 2021 Dec 8. Genet Med. 2022. PMID: 34906487 Free article. Clinical Trial.
Primary hyperoxalurias: diagnosis and treatment.
Ben-Shalom E, Frishberg Y. Ben-Shalom E, et al. Pediatr Nephrol. 2015 Oct;30(10):1781-91. doi: 10.1007/s00467-014-3030-1. Epub 2014 Dec 18. Pediatr Nephrol. 2015. PMID: 25519509 Review.
46 results