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Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ, Losekoot M, Wit JM. Walenkamp MJ, et al. Endocr Dev. 2013;24:128-37. doi: 10.1159/000342841. Epub 2013 Feb 1. Endocr Dev. 2013. PMID: 23392101 Review.
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
Identification and management of poor response to growth-promoting therapy in children with short stature.
Bang P, Ahmed SF, Argente J, Backeljauw P, Bettendorf M, Bona G, Coutant R, Rosenfeld RG, Walenkamp MJ, Savage MO. Bang P, et al. Clin Endocrinol (Oxf). 2012 Aug;77(2):169-81. doi: 10.1111/j.1365-2265.2012.04420.x. Clin Endocrinol (Oxf). 2012. PMID: 22540980 Review.
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. 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
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. 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 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. 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
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM. Walenkamp MJ, et al. J Clin Endocrinol Metab. 2005 May;90(5):2855-64. doi: 10.1210/jc.2004-1254. Epub 2005 Mar 15. J Clin Endocrinol Metab. 2005. PMID: 15769976
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.
Walenkamp MJE, Robers JML, Wit JM, Zandwijken GRJ, van Duyvenvoorde HA, Oostdijk W, Hokken-Koelega ACS, Kant SG, Losekoot M. Walenkamp MJE, et al. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3157-3171. doi: 10.1210/jc.2018-02065. J Clin Endocrinol Metab. 2019. PMID: 30848790
Genetic disorders in the GH IGF-I axis in mouse and man.
Walenkamp MJ, Wit JM. Walenkamp MJ, et al. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S15-26. doi: 10.1530/EJE-07-0148. Eur J Endocrinol. 2007. PMID: 17785692 Review.
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