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2024
Mark RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function
Ibrahim, Hazem ; Balboa, Diego ; Saarimäki-Vire, Jonna ; Montaser, Hossam ; Dyachok, Oleg ; Lund, Per Eric ; Omar-Hmeadi, Muhmmad ; Kvist, Jouni ; Dwivedi, Om P. and Lithovius, Väinö , et al. (2024) In Diabetologia 67(8). p.1642-1662
- Contribution to journal › Article
2023
Mark Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register
Harsunen, Minna ; Kettunen, Jarno L.T. ; Härkönen, Taina ; Dwivedi, Om ; Lehtovirta, Mikko ; Vähäsalo, Paula ; Veijola, Riitta ; Ilonen, Jorma ; Miettinen, Päivi J. and Knip, Mikael , et al. (2023) In Diabetologia 66(3). p.438-449
- Contribution to journal › Article
2022
Mark A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY
Kettunen, Jarno L.T. ; Rantala, Elina ; Dwivedi, Om P. ; Isomaa, Bo ; Sarelin, Leena ; Kokko, Paula ; Hakaste, Liisa ; Miettinen, Päivi J. ; Groop, Leif C. ^LU and Tuomi, Tiinamaija ^LU (2022) In Diabetologia 65(4). p.632-643
- Contribution to journal › Article
2017
Mark Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Patel, Kashyap A. ; Kettunen, Jarno ; Laakso, Markku ; Stančáková, Alena ; Laver, Thomas W. ; Colclough, Kevin ; Johnson, Matthew B. ; Abramowicz, Marc ; Groop, Leif ^LU and Miettinen, Païvi J. , et al. (2017) In Nature Communications 8(1).
- Contribution to journal › Article