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Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, Dobbs R; EXE-T1D Consortium; Ellard S, Flanagan SE, Hattersley AT, Oram RA. Johnson MB, et al. Among authors: oram ra. Diabetologia. 2020 Dec;63(12):2605-2615. doi: 10.1007/s00125-020-05276-4. Epub 2020 Oct 8. Diabetologia. 2020. PMID: 33029656 Free PMC article.
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C. Oram RA, et al. Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5. doi: 10.1016/j.ajog.2010.05.022. Epub 2010 Jul 15. Am J Obstet Gynecol. 2010. PMID: 20633866
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. 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.
Investigating hypokalaemia.
Oram RA, McDonald TJ, Vaidya B. Oram RA, et al. BMJ. 2013 Sep 24;347:f5137. doi: 10.1136/bmj.f5137. BMJ. 2013. PMID: 24065427 No abstract available.
120 results