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2022
Mark EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Adamo, Christin S. ; Beyens, Aude ; Schiavinato, Alvise ; Keene, Douglas R. ; Tufa, Sara F. ; Mörgelin, Matthias ^LU ; Brinckmann, Jürgen ; Sasaki, Takako ; Niehoff, Anja and Dreiner, Maren , et al. (2022) In American Journal of Human Genetics 109(12). p.2230-2252
- Contribution to journal › Article
2020
Mark Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY : Lessons From a 5-Year Pediatric Swedish National Cohort Study
Carlsson, Annelie ^LU ; Shepherd, Maggie ; Ellard, Sian ; Weedon, Michael ; Lernmark, Åke ^LU ; Forsander, Gun ; Colclough, Kevin ; Brahimi, Qefsere ^LU ; Valtonen-Andre, Camilla ^LU and Ivarsson, Sten A ^LU , et al. (2020) In Diabetes Care 43(1). p.82-89
- Contribution to journal › Article
2018
Mark ISPAD Clinical Practice Consensus Guidelines 2018 : The diagnosis and management of monogenic diabetes in children and adolescents
Hattersley, Andrew T. ; Greeley, Siri A.W. ; Polak, Michel ; Rubio-Cabezas, Oscar ; Njølstad, Pål R. ; Mlynarski, Wojciech ; Castano, Luis ; Carlsson, Annelie ^LU ; Raile, Klemens and Chi, Dung V. , et al. (2018) In Pediatric Diabetes 19. p.47-63
- 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
2014
Mark Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan, Sarah E ; Haapaniemi, Emma ; Russell, Mark A ; Caswell, Richard ; Lango Allen, Hana ; De Franco, Elisa ; McDonald, Timothy J ; Rajala, Hanna ; Ramelius, Anita ^LU and Barton, John , et al. (2014) In Nature Genetics 46(8). p.812-814
- Contribution to journal › Article
2003
Mark A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity.
Frayling, Timothy M. ; Lindgren, Cecilia ^LU ; Chevre, Jean Claude ; Menzel, Stephan ; Wishart, Marie ; Benmezroua, Yamina ; Brown, Alison ; Evans, Julie C. ; Rao, Pamidghantam Subba and Dina, Christian , et al. (2003) In Diabetes 52(3). p.872-881
- Contribution to journal › Article

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