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Journal of Human Genetics|March 31, 2017
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genesEleonore Bertko, Jürgen Klammt, Petra Dusatkova, et al.
Hormone Research in Paediatrics|January 30, 2026
The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated IndividualsKlaus Mohnike, Christoph Beger, Ruth Gausche, et al.
The Journal of Clinical Endocrinology and Metabolism|November 5, 2019
A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA ChildrenEric Göpel, Denise Rockstroh, Heike Pfäffle, et al.
Pediatric Radiology|November 12, 2023
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasiasSebastian Rassmann, Alexandra Keller, Kyra Skaf, et al.
Nature Communications|May 31, 2018
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulationJürgen Klammt, David Neumann, Evelien F Gevers, et al.
Hormone Research in Paediatrics|November 11, 2019
GHD Diagnostics in Europe and the US: An Audit of National Guidelines and PracticeGerhard Binder, Thomas Reinehr, Lourdes Ibáñez, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populationsPetra Dusatkova, Roland Pfäffle, Milton R Brown, et al.
The Journal of Clinical Endocrinology and Metabolism|April 12, 2007
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1Birke Bausch, Wiktor Borozdin, Victor F Mautner, et al.
Human Molecular Genetics|November 26, 2015
Genome-wide association analysis identifies three new susceptibility loci for childhood body mass indexJanine F Felix, Jonathan P Bradfield, Claire Monnereau, et al.
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