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Page 1
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: van duyvenvoorde ha. J Clin Endocrinol Metab. 2025 Jan 9:dgaf010. doi: 10.1210/clinem/dgaf010. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39785833
Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M. Ester WA, et al. Among authors: van duyvenvoorde ha. J Clin Endocrinol Metab. 2009 Dec;94(12):4717-27. doi: 10.1210/jc.2008-1502. Epub 2009 Oct 28. J Clin Endocrinol Metab. 2009. PMID: 19864454
An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.
Hannema SE, van Duyvenvoorde HA, Premsler T, Yang RB, Mueller TD, Gassner B, Oberwinkler H, Roelfsema F, Santen GW, Prickett T, Kant SG, Verkerk AJ, Uitterlinden AG, Espiner E, Ruivenkamp CA, Oostdijk W, Pereira AM, Losekoot M, Kuhn M, Wit JM. Hannema SE, et al. Among authors: van duyvenvoorde ha. J Clin Endocrinol Metab. 2013 Dec;98(12):E1988-98. doi: 10.1210/jc.2013-2358. Epub 2013 Sep 20. J Clin Endocrinol Metab. 2013. PMID: 24057292
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. Among authors: van gent dc, van duyvenvoorde ha. 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.
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.
Lauffer P, Miranda-Laferte E, van Duyvenvoorde HA, van Haeringen A, Werner F, Boudin E, Schmidt H, Mueller TD, Kuhn M, van der Kaay DCM. Lauffer P, et al. Among authors: van duyvenvoorde ha, van haeringen a, van der kaay dcm. J Clin Endocrinol Metab. 2020 Jul 1;105(7):2354-66. doi: 10.1210/clinem/dgaa190. J Clin Endocrinol Metab. 2020. PMID: 32282051 Free PMC article.
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Lauffer P, Boudin E, van der Kaay DCM, Koene S, van Haeringen A, van Tellingen V, Van Hul W, Prickett TCR, Mortier G, Espiner EA, van Duyvenvoorde HA. Lauffer P, et al. Among authors: van duyvenvoorde ha, van haeringen a, van tellingen v, van der kaay dcm, van hul w. J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1. J Endocr Soc. 2022. PMID: 35233476 Free PMC article.
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.
Punt LD, van der Kaay DCM, van Setten PA, de Groote K, Kruijsen AR, Bocca G, de Munnik SA, Renes JS, de Bruin C, Losekoot M, van Duyvenvoorde HA, Wit JM, Joustra SD. Punt LD, et al. Among authors: van duyvenvoorde ha. Horm Res Paediatr. 2024 Jun 28:1-11. doi: 10.1159/000540053. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38952118 Free article.
48 results