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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
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
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.
A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.
Göpel E, Rockstroh D, Pfäffle H, Schlicke M, Pozza SB, Gannagé-Yared MH, Gucev Z, Mohn A, Harmel EM, Volkmann J, Weihrauch-Blüher S, Gausche R, Bogatsch H, Beger C, Klammt J, Pfäffle R. Göpel E, et al. Among authors: klammt j. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz165. doi: 10.1210/clinem/dgz165. J Clin Endocrinol Metab. 2020. PMID: 31680140
Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.
Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E, Kiess W. Raile K, et al. Among authors: klammt j. J Clin Endocrinol Metab. 2006 Jun;91(6):2264-71. doi: 10.1210/jc.2005-2146. Epub 2006 Mar 28. J Clin Endocrinol Metab. 2006. PMID: 16569742
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.
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