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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
Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader-Willi syndrome.
Festen DA, de Lind van Wijngaarden R, van Eekelen M, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC. Festen DA, et al. Among authors: wit jm. Clin Endocrinol (Oxf). 2008 Sep;69(3):443-51. doi: 10.1111/j.1365-2265.2008.03228.x. Epub 2008 Mar 18. Clin Endocrinol (Oxf). 2008. PMID: 18363884 Clinical Trial.
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.
Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome.
de Lind van Wijngaarden RF, Siemensma EP, Festen DA, Otten BJ, van Mil EG, Rotteveel J, Odink RJ, Bindels-de Heus GC, van Leeuwen M, Haring DA, Bocca G, Houdijk EC, Hoorweg-Nijman JJ, Vreuls RC, Jira PE, van Trotsenburg AS, Bakker B, Schroor EJ, Pilon JW, Wit JM, Drop SL, Hokken-Koelega AC. de Lind van Wijngaarden RF, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2009 Nov;94(11):4205-15. doi: 10.1210/jc.2009-0454. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837938
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
Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome.
Menke LA, Sas TC, de Muinck Keizer-Schrama SM, Zandwijken GR, de Ridder MA, Odink RJ, Jansen M, Delemarre-van de Waal HA, Stokvis-Brantsma WH, Waelkens JJ, Westerlaken C, Reeser HM, van Trotsenburg AS, Gevers EF, van Buuren S, Dejonckere PH, Hokken-Koelega AC, Otten BJ, Wit JM. Menke LA, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2010 Mar;95(3):1151-60. doi: 10.1210/jc.2009-1821. Epub 2010 Jan 8. J Clin Endocrinol Metab. 2010. PMID: 20061421 Clinical Trial.
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: wit jm. 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.
500 results