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12.14. Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a mendelian randomization analysis using outcomes in first-degree relatives

Richardson Tom G , Wang Qin , Sanderson Eleanor , Mahajan Anubha , McCarthy Mark I , Frayling Timothy M , Ala-Korpela Mika , Sniderman Allan , Smith George Davey , Holmes Michael V

Lancet Healthy Longevity 2021 10.1016/S2666-7568(21)00086-6.In brief: Using a multivariable Mendelian randomization approach, genetic data on lipoprotein lipid levels and disease outcomes indicated that higher Apolipoprotein B (ApoB) levels increase the risks of coronary heart disease, stroke and T2DM, and shorten longevity. ApoB is emerging as a more sensitive measure of disease r...

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ey0019.7-4 | Clinical Guidance | ESPEYB19

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

S Zhan , K Huang , W Wu , D Zhang , A Liu , RM Dorazio , J Shi , R Ullah , L Zhang , J Wang , G Dong , Y Ni , J Fu

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

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ey0019.8-4 | Important for Clinical Practice | ESPEYB19

8.4. A multi-classifier system to identify and subtype congenital adrenal hyperplasia based on circulating steroid hormones

L Ye , Z Zhao , H Ren , W Wang , W Zhou , S Zheng , R Han , J Zhang , H Li , Z Wan , C Tang , S Sun , W Wang , G Ning

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

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ey0016.15-13 | (1) | ESPEYB16

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

J Zhang , J Li , JB Saucier , Y Feng , Y Jiang , J Sinson , AK McCombs , ES Schmitt , S Peacock , S Chen , H Dai , X Ge , G Wang , CA Shaw , H Mei , A Breman , F Xia , Y Yang , A Purgason , A Pourpak , Z Chen , X Wang , Y Wang , S Kulkarni , KW Choy , RJ Wapner , IB Van den Veyver , A Beaudet , S Parmar , LJ Wong , CM Eng

To read the full abstract: Nat Med. 2019 Mar;25(3):439447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...

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ESPE Yearbook of Paediatric Endocrinology

12.14. Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a mendelian randomization analysis using outcomes in first-degree relatives

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

8.4. A multi-classifier system to identify and subtype congenital adrenal hyperplasia based on circulating steroid hormones

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

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