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Page 1
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.
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
Vidarsdottir S, Walenkamp MJ, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA. Vidarsdottir S, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2006 Sep;91(9):3482-5. doi: 10.1210/jc.2006-0368. Epub 2006 Jun 20. J Clin Endocrinol Metab. 2006. PMID: 16787985
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
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
500 results