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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.
The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.
Donze SH, Meijer CR, Kant SG, Zandwijken GR, van der Hout AH, van Spaendonk RM, van den Ouweland AM, Wit JM, Losekoot M, Oostdijk W. Donze SH, et al. Eur J Endocrinol. 2015 Nov;173(5):611-21. doi: 10.1530/EJE-15-0451. Epub 2015 Aug 11. Eur J Endocrinol. 2015. PMID: 26264720 Clinical Trial.
Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.
Walenkamp MJ, Klammt J, Feigerlova E, Losekoot M, van Duyvenvoorde HA, Hwa V, Pfäffle R, Wit JM. Walenkamp MJ, et al. Horm Res Paediatr. 2013;80(6):406-12. doi: 10.1159/000355928. Epub 2013 Dec 3. Horm Res Paediatr. 2013. PMID: 24335149
Spectrum of insulin-like growth factor deficiency.
Wit JM, Oostdijk W, Losekoot M. Wit JM, et al. Endocr Dev. 2012;23:30-41. doi: 10.1159/000341739. Epub 2012 Nov 23. Endocr Dev. 2012. PMID: 23182818 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
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
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. 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
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
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. Among authors: losekoot m. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3157-3171. doi: 10.1210/jc.2018-02065. J Clin Endocrinol Metab. 2019. PMID: 30848790
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group. Joustra SD, et al. J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3. J Clin Endocrinol Metab. 2016. PMID: 26840047 Free PMC article.
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