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Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
De Sousa SMC, Wu KHC, Colclough K, Rawlings L, Dubowsky A, Monnik M, Poplawski N, Scott HS, Horowitz M, Torpy DJ. De Sousa SMC, et al. Among authors: torpy dj. Acta Diabetol. 2024 Feb;61(2):181-188. doi: 10.1007/s00592-023-02193-x. Epub 2023 Oct 9. Acta Diabetol. 2024. PMID: 37812285 Free PMC article.
PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.
De Sousa SMC, Shen A, Yates CJ, Clifton-Bligh R, Santoreneos S, King J, Toubia J, Trivellin G, Lania AG, Stratakis CA, Torpy DJ, Scott HS. De Sousa SMC, et al. Among authors: torpy dj. Front Endocrinol (Lausanne). 2023 Nov 23;14:1305606. doi: 10.3389/fendo.2023.1305606. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38075079 Free PMC article.
196 results