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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. Hamilton AJ, et al. Among authors: weedon mn. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285859 Free PMC article.
Genetic risk scores in adult-onset type 1 diabetes - Authors' reply.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Hattersley AT, Oram RA. Thomas NJ, et al. Among authors: weedon mn. Lancet Diabetes Endocrinol. 2018 Mar;6(3):169. doi: 10.1016/S2213-8587(18)30046-9. Lancet Diabetes Endocrinol. 2018. PMID: 29475496 No abstract available.
Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children.
Bonifacio E, Beyerlein A, Hippich M, Winkler C, Vehik K, Weedon MN, Laimighofer M, Hattersley AT, Krumsiek J, Frohnert BI, Steck AK, Hagopian WA, Krischer JP, Lernmark Å, Rewers MJ, She JX, Toppari J, Akolkar B, Oram RA, Rich SS, Ziegler AG; TEDDY Study Group. Bonifacio E, et al. Among authors: weedon mn. PLoS Med. 2018 Apr 3;15(4):e1002548. doi: 10.1371/journal.pmed.1002548. eCollection 2018 Apr. PLoS Med. 2018. PMID: 29614081 Free PMC article.
Clinical and research uses of genetic risk scores in type 1 diabetes.
Sharp SA, Weedon MN, Hagopian WA, Oram RA. Sharp SA, et al. Among authors: weedon mn. Curr Opin Genet Dev. 2018 Jun;50:96-102. doi: 10.1016/j.gde.2018.03.009. Epub 2018 Apr 24. Curr Opin Genet Dev. 2018. PMID: 29702327 Free PMC article. Review.
298 results