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A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2006 Aug;91(8):3062-70. doi: 10.1210/jc.2005-1597. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757531
The 23K variant of the R23K polymorphism in the glucocorticoid receptor gene protects against postnatal growth failure and insulin resistance after preterm birth.
Finken MJ, Meulenbelt I, Dekker FW, Frölich M, Romijn JA, Slagboom PE, Wit JM; Dutch POPS-19 Collaborative Study Group. Finken MJ, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2007 Dec;92(12):4777-82. doi: 10.1210/jc.2007-1290. Epub 2007 Sep 11. J Clin Endocrinol Metab. 2007. PMID: 17848410
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2008 Jun;93(6):2421-5. doi: 10.1210/jc.2007-1789. Epub 2008 Mar 18. J Clin Endocrinol Metab. 2008. PMID: 18349070
Single gene mutations causing SGA.
Walenkamp MJ, Wit JM. Walenkamp MJ, et al. Among authors: wit jm. Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):433-46. doi: 10.1016/j.beem.2008.02.001. Best Pract Res Clin Endocrinol Metab. 2008. PMID: 18538284 Review.
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: wit jm. 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: wit jm. 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
500 results