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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: wit jm. J Clin Endocrinol Metab. 2025 Jan 9:dgaf010. doi: 10.1210/clinem/dgaf010. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39785833
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: wit jm. Horm Res Paediatr. 2024 Jun 28:1-11. doi: 10.1159/000540053. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38952118 Free article.
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD, Isik E, Wit JM, Catli G, Anik A, Haliloglu B, Kandemir N, Ozsu E, Hendriks YMC, de Bruin C, Kant SG, Campos-Barros A, Challis RC, Parry D, Harley ME, Jackson A, Losekoot M, van Duyvenvoorde HA. Joustra SD, et al. Among authors: wit jm. Horm Res Paediatr. 2024 Jun 5:1-11. doi: 10.1159/000539696. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38838658 Free PMC article.
Identification of novel genes including NAV2 associated with isolated tall stature.
Weiss B, Ott T, Vick P, Lui JC, Roeth R, Vogel S, Waldmüller S, Hoffmann S, Baron J, Wit JM, Rappold GA. Weiss B, et al. Among authors: wit jm. Front Endocrinol (Lausanne). 2023 Dec 12;14:1258313. doi: 10.3389/fendo.2023.1258313. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38152138 Free PMC article.
501 results