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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. Weedon MN, et al. Among authors: oram r. Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770608 Free PMC article.
Meta-genome-wide association studies identify a locus on chromosome 1 and multiple variants in the MHC region for serum C-peptide in type 1 diabetes.
Roshandel D, Gubitosi-Klug R, Bull SB, Canty AJ, Pezzolesi MG, King GL, Keenan HA, Snell-Bergeon JK, Maahs DM, Klein R, Klein BEK, Orchard TJ, Costacou T, Weedon MN; DCCT/EDIC Research Group; Oram RA, Paterson AD. Roshandel D, et al. Among authors: oram ra. Diabetologia. 2018 May;61(5):1098-1111. doi: 10.1007/s00125-018-4555-9. Epub 2018 Feb 5. Diabetologia. 2018. PMID: 29404672 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. 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. 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.
209 results