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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Rooryck C, et al. Among authors: kenny j. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258343 Free PMC article.
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Forsythe E, et al. Among authors: kenny j. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Front Pediatr. 2018. PMID: 29487844 Free PMC article. Review.
Effect of Hydroxychloroquine in Hospitalized Patients with Covid-19.
RECOVERY Collaborative Group; Horby P, Mafham M, Linsell L, Bell JL, Staplin N, Emberson JR, Wiselka M, Ustianowski A, Elmahi E, Prudon B, Whitehouse T, Felton T, Williams J, Faccenda J, Underwood J, Baillie JK, Chappell LC, Faust SN, Jaki T, Jeffery K, Lim WS, Montgomery A, Rowan K, Tarning J, Watson JA, White NJ, Juszczak E, Haynes R, Landray MJ. RECOVERY Collaborative Group, et al. N Engl J Med. 2020 Nov 19;383(21):2030-2040. doi: 10.1056/NEJMoa2022926. Epub 2020 Oct 8. N Engl J Med. 2020. PMID: 33031652 Free PMC article. Clinical Trial.
Dexamethasone in Hospitalized Patients with Covid-19.
RECOVERY Collaborative Group; Horby P, Lim WS, Emberson JR, Mafham M, Bell JL, Linsell L, Staplin N, Brightling C, Ustianowski A, Elmahi E, Prudon B, Green C, Felton T, Chadwick D, Rege K, Fegan C, Chappell LC, Faust SN, Jaki T, Jeffery K, Montgomery A, Rowan K, Juszczak E, Baillie JK, Haynes R, Landray MJ. RECOVERY Collaborative Group, et al. N Engl J Med. 2021 Feb 25;384(8):693-704. doi: 10.1056/NEJMoa2021436. Epub 2020 Jul 17. N Engl J Med. 2021. PMID: 32678530 Free PMC article. Clinical Trial.
Genetic testing in dementia - utility and clinical strategies.
Koriath CAM, Kenny J, Ryan NS, Rohrer JD, Schott JM, Houlden H, Fox NC, Tabrizi SJ, Mead S. Koriath CAM, et al. Among authors: kenny j. Nat Rev Neurol. 2021 Jan;17(1):23-36. doi: 10.1038/s41582-020-00416-1. Epub 2020 Nov 9. Nat Rev Neurol. 2021. PMID: 33168964 Review.
Ascertainment bias causes false signal of anticipation in genetic prion disease.
Minikel EV, Zerr I, Collins SJ, Ponto C, Boyd A, Klug G, Karch A, Kenny J, Collinge J, Takada LT, Forner S, Fong JC, Mead S, Geschwind MD. Minikel EV, et al. Among authors: kenny j. Am J Hum Genet. 2014 Oct 2;95(4):371-82. doi: 10.1016/j.ajhg.2014.09.003. Am J Hum Genet. 2014. PMID: 25279981 Free PMC article.
780 results