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213 results

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Page 1
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. Among authors: van duyvenvoorde ha, van doorn j. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306
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: van duyvenvoorde ha, van dissel j, van doorn j. 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
Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA. Walenkamp MJ, et al. Among authors: van duyvenvoorde ha, van dissel j, van doorn j. Eur J Endocrinol. 2007 Feb;156(2):155-65. doi: 10.1530/eje.1.02327. Eur J Endocrinol. 2007. PMID: 17287404
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: van setten pa, van doorn j. 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
The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein.
van Duyvenvoorde HA, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Wade JD, Karperien M, Ruivenkamp CA, Losekoot M, van Setten PA, Walenkamp MJ, Noordam C, De Meyts P, Wit JM. van Duyvenvoorde HA, et al. Among authors: van doorn j, van setten pa. Growth Horm IGF Res. 2011 Feb;21(1):44-50. doi: 10.1016/j.ghir.2010.12.004. Epub 2011 Jan 14. Growth Horm IGF Res. 2011. PMID: 21237682
Biochemical markers of growth hormone (GH) sensitivity in children with idiopathic short stature: individual capacity of IGF-I generation after high-dose GH treatment determines the growth response to GH.
Kamp GA, Zwinderman AH, Van Doorn J, Hackeng W, Frölich M, Schönau E, Wit JM. Kamp GA, et al. Among authors: van doorn j. Clin Endocrinol (Oxf). 2002 Sep;57(3):315-25. doi: 10.1046/j.1365-2265.2002.01575.x. Clin Endocrinol (Oxf). 2002. PMID: 12201823 Clinical Trial.
213 results