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ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

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ey0020.3-5 | Advances in Clinical Practice | ESPEYB20

3.5. High bone mass disorders: New insights from connecting the clinic and the bench

DJM Bergen , A Maurizi , MM Formosa , GLK McDonald , A El-Gazzar , N Hassan , ML Brandi , JA Riancho , F Rivadeneira , E Ntzani , EL Duncan , CL Gregson , DP Kiel , MC Zillikens , L Sangiorgi , W Hogler , I Duran , O Makitie , W Van Hul , G Hendrickx

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...

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ESPE Yearbook of Paediatric Endocrinology

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

3.5. High bone mass disorders: New insights from connecting the clinic and the bench

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