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Loss-of-function GHSR variants are associated with short stature and low IGF-I.
Punt LD, Kooijman S, Mutsters NJM, Yue K, van der Kaay DCM, van Tellingen V, Bakker-van Waarde WM, Boot AM, van den Akker ELT, van Boekholt AA, de Groote K, Kruijsen AR, van Nieuwaal-van Maren NHG, Woltering MC, Heijligers M, van der Heyden JC, Bannink EMN, Rinne T, Hannema SE, de Waal WJ, Delemarre LC, Rensen PCN, de Bruin C, van Duyvenvoorde HA, Visser JA, Delhanty PJD, Losekoot M, Wit JM, Joustra SD. Punt LD, et al. Among authors: de bruin c. J Clin Endocrinol Metab. 2025 Jan 9:dgaf010. doi: 10.1210/clinem/dgaf010. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39785833
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. de Bruin C, et al. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.
Ways to Improve the Diagnosis of Growth Hormone Deficiency.
Wit JM, Vliegenthart J, Joustra SD, de Bruin C, Bakker B, van der Kaay DCM, Bocca G. Wit JM, et al. Among authors: de bruin c. Horm Res Paediatr. 2022;95(1):93-96. doi: 10.1159/000522541. Epub 2022 Feb 10. Horm Res Paediatr. 2022. PMID: 35144257 Free article. No abstract available.
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM. Mericq V, et al. Among authors: de bruin c. Eur J Endocrinol. 2022 Mar 23;186(5):543-552. doi: 10.1530/EJE-21-0609. Eur J Endocrinol. 2022. PMID: 35234134 Free PMC article.
79 results