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3.14. Preoperative metabolic classification of thyroid nodules using mass spectrometry imaging of fine-needle aspiration biopsies

RJ DeHoog , J Zhang , E Alore , JQ Lin , W Yu , S Woody , C Almendariz , M Lin , AF Engelsman , SB Sidhu , R Tibshirani , J Suliburk , LS Eberlin

To read the full abstract: Proc Natl Acad Sci U S A. 2019;116:2140121408.This prospective diagnostic study used desorption electrospray ionization mass spectrometry (DESI-MS) to classify thyroid nodules by their metabolic signature, and more precisely their lipid profile. DESI-MS is a technique using charged aerosols of microdroplets which are sprayed onto a surface (e.g. tissue) to desorb and ionize molecules which are then analyzed by MS...

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ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

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ey0019.2-14 | Neonatal diabetes mellitus | ESPEYB19

2.14. Mutations and variants of ONECUT1 in diabetes

A Philippi , S Heller , IG Costa , V Senee , M Breunig , Z Li , G Kwon , R Russell , A Illing , Q Lin , M Hohwieler , A Degavre , P Zalloua , S Liebau , M Schuster , J Krumm , X Zhang , R Geusz , JR Benthuysen , A Wang , J Chiou , K Gaulton , H Neubauer , E Simon , T Klein , M Wagner , G Nair , C Besse , C Dandine-Roulland , R Olaso , JF Deleuze , B Kuster , M Hebrok , T Seufferlein , M Sander , BO Boehm , F Oswald , M Nicolino , C Julier , A Kleger

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

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ESPE Yearbook of Paediatric Endocrinology

3.14. Preoperative metabolic classification of thyroid nodules using mass spectrometry imaging of fine-needle aspiration biopsies

4.11. Genetic architecture associated with familial short stature

2.14. Mutations and variants of ONECUT1 in diabetes

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