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Page 1
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.
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.
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
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Among authors: borck g. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: borck g. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.
Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G. Sowada N, et al. Among authors: borck g. Hum Genet. 2017 Nov;136(11-12):1455-1461. doi: 10.1007/s00439-017-1850-3. Epub 2017 Oct 31. Hum Genet. 2017. PMID: 29090338
111 results