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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: borck g. 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
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: borck g. 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.
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
Nunziata A, Funcke JB, Borck G, von Schnurbein J, Brandt S, Lennerz B, Moepps B, Gierschik P, Fischer-Posovszky P, Wabitsch M. Nunziata A, et al. Among authors: borck g. J Endocr Soc. 2018 Sep 17;3(1):27-41. doi: 10.1210/js.2018-00123. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30560226 Free PMC article. Review.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. von Ameln S, et al. Among authors: borck g. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084290 Free PMC article.
111 results