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Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.
Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Müller E, Kratzsch J, Körner A, Odeh R, Kiess W, Pfäffle R. Kruis T, et al. Among authors: klammt j. J Clin Endocrinol Metab. 2010 Mar;95(3):1137-42. doi: 10.1210/jc.2009-1433. Epub 2010 Jan 26. J Clin Endocrinol Metab. 2010. PMID: 20103656
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation.
Wallborn T, Wüller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, Schlicke M, Müller E, van de Leur HS, Kiess W, Pfäffle R. Wallborn T, et al. Among authors: klammt j. J Clin Endocrinol Metab. 2010 May;95(5):2316-24. doi: 10.1210/jc.2009-2404. Epub 2010 Mar 31. J Clin Endocrinol Metab. 2010. PMID: 20357178
IGF1R mutations as cause of SGA.
Klammt J, Kiess W, Pfäffle R. Klammt J, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):191-206. doi: 10.1016/j.beem.2010.09.012. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396585 Review.
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfäffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group. Abuzzahab MJ, et al. Among authors: klammt j. N Engl J Med. 2003 Dec 4;349(23):2211-22. doi: 10.1056/NEJMoa010107. N Engl J Med. 2003. PMID: 14657428 Free article.
Downstream insulin-like growth factor.
Pfäffle R, Kiess W, Klammt J. Pfäffle R, et al. Among authors: klammt j. Endocr Dev. 2012;23:42-51. doi: 10.1159/000341745. Epub 2012 Nov 23. Endocr Dev. 2012. PMID: 23182819 Review.
84 results