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Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
Jahnavi S, Poovazhagi V, Mohan V, Bodhini D, Raghupathy P, Amutha A, Suresh Kumar P, Adhikari P, Shriraam M, Kaur T, Das AK, Molnes J, Njolstad PR, Unnikrishnan R, Radha V. Jahnavi S, et al. Among authors: njolstad pr. Clin Genet. 2013 May;83(5):439-45. doi: 10.1111/j.1399-0004.2012.01939.x. Epub 2012 Aug 20. Clin Genet. 2013. PMID: 22831748
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. Gloyn AL, et al. Among authors: njolstad pr. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR. Sagen JV, et al. Among authors: njolstad pr. Diabetes. 2004 Oct;53(10):2713-8. doi: 10.2337/diabetes.53.10.2713. Diabetes. 2004. PMID: 15448106
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
Sagen JV, Bjørkhaug L, Molnes J, Raeder H, Grevle L, Søvik O, Molven A, Njølstad PR. Sagen JV, et al. Among authors: njolstad pr. Pediatr Diabetes. 2008 Oct;9(5):442-9. doi: 10.1111/j.1399-5448.2008.00399.x. Epub 2008 Apr 9. Pediatr Diabetes. 2008. PMID: 18399931
A pathway to insulin independence in newborns and infants with diabetes.
Shahawy S, Chan NK, Ellard S, Young E, Shahawy H, Mace J, Peverini R, Chinnock R, Njolstad PR, Hattersley AT, Hathout E. Shahawy S, et al. Among authors: njolstad pr. J Perinatol. 2011 Aug;31(8):567-70. doi: 10.1038/jp.2011.4. J Perinatol. 2011. PMID: 21796147
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jørgensen K, Kulkarni RN, Søvik O, Flatmark T, Njølstad PR, Bjørkhaug L. Negahdar M, et al. Among authors: njolstad pr. Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. doi: 10.1016/j.mce.2013.08.020. Epub 2013 Aug 31. Mol Cell Endocrinol. 2014. PMID: 24001579
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D. Flannick J, et al. Among authors: njolstad pr. Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6. Nat Genet. 2013. PMID: 24097065 Free PMC article.
284 results