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Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L. Wangensteen T, et al. Among authors: retterstol l. Exp Clin Endocrinol Diabetes. 2009 Jun;117(6):266-73. doi: 10.1055/s-0028-1102942. Epub 2009 Mar 19. Exp Clin Endocrinol Diabetes. 2009. PMID: 19301229 Clinical Trial.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L. Sitek JC, et al. Among authors: retterstol l. J Eur Acad Dermatol Venereol. 2018 Jun;32(6):1022-1027. doi: 10.1111/jdv.14870. Epub 2018 Mar 9. J Eur Acad Dermatol Venereol. 2018. PMID: 29444371
[Genetic causes of obesity].
Wangensteen T, Undlien D, Tonstad S, Retterstøl L. Wangensteen T, et al. Among authors: retterstol l. Tidsskr Nor Laegeforen. 2005 Nov 17;125(22):3090-3. Tidsskr Nor Laegeforen. 2005. PMID: 16299561 Free article. Review. Norwegian.
41 results