Johansson S - Search Results

1

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Rafaelsen S, et al. Among authors: johansson s. BMC Genet. 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3. BMC Genet. 2014. PMID: 25249269 Free PMC article. Review.

2

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Rafaelsen SH, et al. Among authors: johansson s. J Bone Miner Res. 2013 Jun;28(6):1378-85. doi: 10.1002/jbmr.1850. J Bone Miner Res. 2013. PMID: 23325605 Free article. Clinical Trial.

3

Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).

Hertel JK, Johansson S, Ræder H, Platou CG, Midthjell K, Hveem K, Molven A, Njølstad PR. Hertel JK, et al. Among authors: johansson s. BMC Med Genet. 2011 Feb 4;12:20. doi: 10.1186/1471-2350-12-20. BMC Med Genet. 2011. PMID: 21294870 Free PMC article.

4

Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.

Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Rafaelsen S, et al. Among authors: johansson s. Eur J Endocrinol. 2016 Feb;174(2):125-36. doi: 10.1530/EJE-15-0515. Epub 2015 Nov 5. Eur J Endocrinol. 2016. PMID: 26543054 Free PMC article.

5

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, Molven A, Njølstad PR. Torsvik J, et al. Among authors: johansson s. Hum Genet. 2010 Jan;127(1):55-64. doi: 10.1007/s00439-009-0740-8. Epub 2009 Sep 17. Hum Genet. 2010. PMID: 19760265

6

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjørkhaug L, Sagen JV, Aksnes L, Søvik O, Lombardo D, Molven A, Njølstad PR. Raeder H, et al. Among authors: johansson s. Nat Genet. 2006 Jan;38(1):54-62. doi: 10.1038/ng1708. Epub 2005 Dec 20. Nat Genet. 2006. PMID: 16369531

7

[Molecular diagnostics in diabetes mellitus].

Bjørkhaug L, Johansson S, Raeder H, Thorsby PM, Undlien DE, Søvik O, Molven A, Sagen JV, Njølstad PR. Bjørkhaug L, et al. Among authors: johansson s. Tidsskr Nor Laegeforen. 2005 Nov 3;125(21):2968-72. Tidsskr Nor Laegeforen. 2005. PMID: 16276383 Free article. Review. Norwegian.

8

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.

Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, Weedon MN. Lango Allen H, et al. Among authors: johansson s. Diabetes. 2010 Jan;59(1):266-71. doi: 10.2337/db09-0555. Epub 2009 Sep 30. Diabetes. 2010. PMID: 19794065 Free PMC article.

9

Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3.

Vesterhus M, Raeder H, Johansson S, Molven A, Njølstad PR. Vesterhus M, et al. Among authors: johansson s. Diabetes Care. 2008 Feb;31(2):306-10. doi: 10.2337/dc07-1002. Epub 2007 Nov 5. Diabetes Care. 2008. PMID: 17989309

10

[Progress in diabetes genetics].

Njølstad PR, Hertel JK, Søvik O, Raeder H, Johansson S, Molven A. Njølstad PR, et al. Among authors: johansson s. Tidsskr Nor Laegeforen. 2010 Jun 3;130(11):1145-9. doi: 10.4045/tidsskr.09.1035. Tidsskr Nor Laegeforen. 2010. PMID: 20531501 Free article. Review. Norwegian.

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