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A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness.
Fischer-Posovszky P, von Schnurbein J, Moepps B, Lahr G, Strauss G, Barth TF, Kassubek J, Mühleder H, Möller P, Debatin KM, Gierschik P, Wabitsch M. Fischer-Posovszky P, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2010 Jun;95(6):2836-40. doi: 10.1210/jc.2009-2466. Epub 2010 Apr 9. J Clin Endocrinol Metab. 2010. PMID: 20382689
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction.
Posovszky C, Lahr G, von Schnurbein J, Buderus S, Findeisen A, Schröder C, Schütz C, Schulz A, Debatin KM, Wabitsch M, Barth TF. Posovszky C, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2012 Feb;97(2):E292-300. doi: 10.1210/jc.2011-2044. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162465
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P. Wabitsch M, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2015 Sep;100(9):3227-30. doi: 10.1210/jc.2015-2263. Epub 2015 Jul 17. J Clin Endocrinol Metab. 2015. PMID: 26186301 Free PMC article.
47 results