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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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ey0018.4-6 | Growth Hormone Therapy: Safety | ESPEYB18

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

L Savendahl , R Cooke , A Tidblad , D Beckers , G Butler , S Cianfarani , P Clayton , J Coste , ACS Hokken-Koelega , W Kiess , CE Kuehni , K Albertsson-Wikland , A Deodati , E Ecosse , R Gausche , C Giacomozzi , D Konrad , F Landier , R Pfaeffle , G Sommer , M Thomas , S Tollerfield , GRJ Zandwijken , JC Carel , AJ Swerdlow

Lancet Diabetes Endocrinol. 2020;8(8):683692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

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ey0021.4-13 | New Perspectives | ESPEYB21

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

AJ Waters , T Brendler-Spaeth , D Smith , V Offord , HK Tan , Y Zhao , S Obolenski , M Nielsen , R van Doorn , JE Murphy , P Gupta , CF Rowlands , H Hanson , E Delage , M Thomas , EJ Radford , SS Gerety , C Turnbull , JRB Perry , ME Hurles , DJ Adams

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...

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ey0017.14-10 | (1) | ESPEYB17

14.10. Low-dose aspirin for the prevention of preterm delivery

MK Hoffman , SS Goudar , BS Kodkany , M Metgud , M Somannavar , J Okitawutshu , A Lokangaka , A Tshefu , CL Bose , A Mwapule , M Mwenechanya , E Chomba , WA Carlo , J Chicuy , L Figueroa , A Garces , NF Krebs , S Jessani , F Zehra , S Saleem , RL Goldenberg , K Kurhe , P Das , A Patel , PL Hibberd , E Achieng , P Nyongesa , F Esamai , EA Liechty , N Goco , J Hemingway-Foday , J Moore , TL Nolen , EM McClure , M Koso-Thomas , M Miodovnik , R Silver , RJ Derman , ASPIRIN Study Group

To read the full abstract: Lancet. 2020 Jan 25;395(10220):285-293. doi: 10.1016/S0140-6736(19)32973-3.This randomised, placebo-controlled trial (ASPIRIN) in 11,976 nulliparous women in six low or middle-income countries (India, Democratic Republic of the Congo, Guatemala, Kenya, Pakistan, and Zambia) found that low-dose aspirin (81 mg daily from early pregnancy) reduced t...

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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

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

14.10. Low-dose aspirin for the prevention of preterm delivery

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