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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: schlicke m. 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: schlicke m. 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
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
Bertko E, Klammt J, Dusatkova P, Bahceci M, Gonc N, Ten Have L, Kandemir N, Mansmann G, Obermannova B, Oostdijk W, Pfäffle H, Rockstroh-Lippold D, Schlicke M, Tuzcu AK, Pfäffle R. Bertko E, et al. Among authors: schlicke m. J Hum Genet. 2017 Aug;62(8):755-762. doi: 10.1038/jhg.2017.34. Epub 2017 Mar 30. J Hum Genet. 2017. PMID: 28356564 Free PMC article.
Genetics of human stature: Insight from single gene disorders.
Kiess W, Kratzsch J, Kruis T, Müller E, Wallborn T, Odeh R, Schlicke M, Klammt J, Pfäffle R. Kiess W, et al. Among authors: schlicke m. Horm Res Paediatr. 2011;76 Suppl 3:11-3. doi: 10.1159/000330140. Epub 2011 Sep 7. Horm Res Paediatr. 2011. PMID: 21912148
IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).
Janchevska A, Krstevska-Konstantinova M, Pfäffle H, Schlicke M, Laban N, Tasic V, Gucev Z, Mironska K, Dimovski A, Kratzsch J, Klammt J, Pfäffle R. Janchevska A, et al. Among authors: schlicke m. Open Access Maced J Med Sci. 2018 Nov 10;6(11):2040-2044. doi: 10.3889/oamjms.2018.416. eCollection 2018 Nov 25. Open Access Maced J Med Sci. 2018. PMID: 30559857 Free PMC article.
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: schlicke m. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz165. doi: 10.1210/clinem/dgz165. J Clin Endocrinol Metab. 2020. PMID: 31680140
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