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FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium. Hwang JL, et al. Pediatr Diabetes. 2018 May;19(3):388-392. doi: 10.1111/pedi.12612. Epub 2017 Nov 29. Pediatr Diabetes. 2018. PMID: 29193502 Free PMC article.
Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
Carmody D, Bell CD, Hwang JL, Dickens JT, Sima DI, Felipe DL, Zimmer CA, Davis AO, Kotlyarevska K, Naylor RN, Philipson LH, Greeley SA. Carmody D, et al. Among authors: hwang jl. J Clin Endocrinol Metab. 2014 Dec;99(12):E2709-14. doi: 10.1210/jc.2014-2494. J Clin Endocrinol Metab. 2014. PMID: 25238204 Free PMC article.
Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion.
Carmody D, Beca FA, Bell CD, Hwang JL, Dickens JT, Devine NA, Mackay DJ, Temple IK, Hays LR, Naylor RN, Philipson LH, Greeley SA. Carmody D, et al. Among authors: hwang jl. Diabetes Care. 2015 Jun;38(6):e86-7. doi: 10.2337/dc14-3056. Diabetes Care. 2015. PMID: 25998302 Free PMC article. No abstract available.
Tuberous sclerosis complex is associated with a novel human tauopathy.
Hwang JL, Perloff OS, Gaus SE, Benitez C, Alquezar C, Cosme CQ, Nana AL, Vatsavayai SC, Ramos EM, Geschwind DH, Miller BL, Kao AW, Seeley WW. Hwang JL, et al. Acta Neuropathol. 2023 Jan;145(1):1-12. doi: 10.1007/s00401-022-02521-5. Epub 2022 Dec 5. Acta Neuropathol. 2023. PMID: 36469115 Free PMC article.
183 results