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Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P, Kaci A, Molnes J, Solheim MH, Johansson BB, Krogvold L, Skrivarhaug T, Valen E, Johansson S, Molven A, Sagen JV, Søfteland E, Bjørkhaug L, Tjora E, Aukrust I, Njølstad PR. Svalastoga P, et al. Diabetologia. 2023 Dec;66(12):2226-2237. doi: 10.1007/s00125-023-06012-4. Epub 2023 Oct 5. Diabetologia. 2023. PMID: 37798422 Free PMC article.
Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study.
Hughes AM, Sanderson E, Morris T, Ayorech Z, Tesli M, Ask H, Reichborn-Kjennerud T, Andreassen OA, Magnus P, Helgeland Ø, Johansson S, Njølstad P, Davey Smith G, Havdahl A, Howe LD, Davies NM. Hughes AM, et al. Elife. 2022 Dec 20;11:e74320. doi: 10.7554/eLife.74320. Elife. 2022. PMID: 36537070 Free PMC article.
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL. Althari S, et al. Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910913 Free PMC article.
Intellectual Disability in KATP Channel Neonatal Diabetes.
Svalastoga P, Sulen Å, Fehn JR, Aukland SM, Irgens H, Sirnes E, Fevang SKE, Valen E, Elgen IB, Njølstad PR. Svalastoga P, et al. Diabetes Care. 2020 Mar;43(3):526-533. doi: 10.2337/dc19-1013. Epub 2020 Jan 13. Diabetes Care. 2020. PMID: 31932458
The homeobox factor Irx3 maintains adipogenic identity.
Bjune JI, Dyer L, Røsland GV, Tronstad KJ, Njølstad PR, Sagen JV, Dankel SN, Mellgren G. Bjune JI, et al. Metabolism. 2020 Feb;103:154014. doi: 10.1016/j.metabol.2019.154014. Epub 2019 Nov 18. Metabolism. 2020. PMID: 31751577
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Bowman P, et al. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Lancet Diabetes Endocrinol. 2018. PMID: 29880308 Free PMC article.
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