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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: lahr g. 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.
Novel homozygous AIRE mutation in a German patient with severe APECED.
von Schnurbein J, Lahr G, Posovszky C, Debatin KM, Wabitsch M. von Schnurbein J, et al. Among authors: lahr g. J Pediatr Endocrinol Metab. 2008 Oct;21(10):1003-9. doi: 10.1515/jpem.2008.21.10.1003. J Pediatr Endocrinol Metab. 2008. PMID: 19209622
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: lahr g. 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
Biologically inactive leptin and early-onset extreme obesity.
Wabitsch M, Funcke JB, Lennerz B, Kuhnle-Krahl U, Lahr G, Debatin KM, Vatter P, Gierschik P, Moepps B, Fischer-Posovszky P. Wabitsch M, et al. Among authors: lahr g. N Engl J Med. 2015 Jan 1;372(1):48-54. doi: 10.1056/NEJMoa1406653. N Engl J Med. 2015. PMID: 25551525 Free article.
Monogenic forms of childhood obesity due to mutations in the leptin gene.
Funcke JB, von Schnurbein J, Lennerz B, Lahr G, Debatin KM, Fischer-Posovszky P, Wabitsch M. Funcke JB, et al. Among authors: lahr g. Mol Cell Pediatr. 2014 Dec;1(1):3. doi: 10.1186/s40348-014-0003-1. Epub 2014 Sep 4. Mol Cell Pediatr. 2014. PMID: 26567097 Free PMC article.
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: lahr g. 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
50 results