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Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.
Kohlsdorf K, Nunziata A, Funcke JB, Brandt S, von Schnurbein J, Vollbach H, Lennerz B, Fritsch M, Greber-Platzer S, Fröhlich-Reiterer E, Luedeke M, Borck G, Debatin KM, Fischer-Posovszky P, Wabitsch M. Kohlsdorf K, et al. Among authors: debatin km. Int J Obes (Lond). 2018 Sep;42(9):1602-1609. doi: 10.1038/s41366-018-0049-6. Epub 2018 Feb 27. Int J Obes (Lond). 2018. PMID: 29568105
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: debatin km. 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: debatin km. 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.
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: debatin km. 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
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: debatin km. 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.
Estimated prevalence of potentially damaging variants in the leptin gene.
Nunziata A, Borck G, Funcke JB, Kohlsdorf K, Brandt S, Hinney A, Moepps B, Gierschik P, Debatin KM, Fischer-Posovszky P, Wabitsch M. Nunziata A, et al. Among authors: debatin km. Mol Cell Pediatr. 2017 Nov 3;4(1):10. doi: 10.1186/s40348-017-0074-x. Mol Cell Pediatr. 2017. PMID: 29101506 Free PMC article.
529 results