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Page 1
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.
de Graaf M, Kant SG, Wit JM, Willem Redeker EJ, Eduard Santen GW, Henriëtta Verkerk AJM, Uitterlinden AG, Losekoot M, Oostdijk W. de Graaf M, et al. Among authors: wit jm. J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):366-370. doi: 10.4274/jcrpe.4349. Epub 2017 Jun 7. J Clin Res Pediatr Endocrinol. 2017. PMID: 28588001 Free PMC article.
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Ruivenkamp CA, Losekoot M, Wade JD, De Meyts P, Karperien M, Noordam C, Wit JM. van Duyvenvoorde HA, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2010 Nov;95(11):E363-7. doi: 10.1210/jc.2010-0511. Epub 2010 Jul 28. J Clin Endocrinol Metab. 2010. PMID: 20668042
A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation.
Mul D, Wu S, de Paus RA, Oostdijk W, Lankester AC, Duyvenvoorde HA, Ruivenkamp CA, Losekoot M, Tol MJ, De Luca F, van de Vosse E, Wit JM. Mul D, et al. Among authors: wit jm. Eur J Endocrinol. 2012 Apr;166(4):743-52. doi: 10.1530/EJE-11-0774. Epub 2012 Jan 3. Eur J Endocrinol. 2012. PMID: 22214923
Genetic analysis of short children with apparent growth hormone insensitivity.
Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M. Wit JM, et al. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306
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
498 results