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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: pfaffle h. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz165. doi: 10.1210/clinem/dgz165. J Clin Endocrinol Metab. 2020. PMID: 31680140
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: pfaffle h. 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.
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB Jr, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW. Blum WF, et al. Among authors: pfaffle hm. EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25. EBioMedicine. 2018. PMID: 30266296 Free PMC article.
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: pfaffle h. 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.
Detection of impaired homologous recombination repair in NSCLC cells and tissues.
Birkelbach M, Ferraiolo N, Gheorghiu L, Pfäffle HN, Daly B, Ebright MI, Spencer C, O'Hara C, Whetstine JR, Benes CH, Sequist LV, Zou L, Dahm-Daphi J, Kachnic LA, Willers H. Birkelbach M, et al. Among authors: pfaffle hn. J Thorac Oncol. 2013 Mar;8(3):279-86. doi: 10.1097/JTO.0b013e31827ecf83. J Thorac Oncol. 2013. PMID: 23399959 Free PMC article.