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Page 1
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA. Hildebrandt F, et al. PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23. PLoS Genet. 2009. PMID: 19165332 Free PMC article.
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
Tucked Away: An Infected Thrombus.
Hubbard E, Wise E, Hubbard B, Girard S, Kong B, Moudgal V. Hubbard E, et al. Am J Med. 2016 Jun;129(6):576-9. doi: 10.1016/j.amjmed.2016.01.042. Epub 2016 Feb 19. Am J Med. 2016. PMID: 26901112 No abstract available.
4-Hydroxy-5,6-dihydropyrones as inhibitors of HIV protease: the effect of heterocyclic substituents at C-6 on antiviral potency and pharmacokinetic parameters.
Hagen SE, Domagala J, Gajda C, Lovdahl M, Tait BD, Wise E, Holler T, Hupe D, Nouhan C, Urumov A, Zeikus G, Zeikus E, Lunney EA, Pavlovsky A, Gracheck SJ, Saunders J, VanderRoest S, Brodfuehrer J. Hagen SE, et al. J Med Chem. 2001 Jul 5;44(14):2319-32. doi: 10.1021/jm0003844. J Med Chem. 2001. PMID: 11428926
The impact of gout guidelines.
Wise E, Khanna PP. Wise E, et al. Curr Opin Rheumatol. 2015 May;27(3):225-30. doi: 10.1097/BOR.0000000000000168. Curr Opin Rheumatol. 2015. PMID: 25784381 Review.
55 results