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The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD PMDI; Misra S, Aukrust I, de Franco E, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL. Murphy R, et al. Among authors: de franco e. Commun Med (Lond). 2023 Oct 5;3(1):136. doi: 10.1038/s43856-023-00369-8. Commun Med (Lond). 2023. PMID: 37794142 Free PMC article.
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, de Vries L, Rubio-Cabezas O, Houghton JA, Edghill EL, Patch AM, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: de franco e, de vries l. Cell Metab. 2014 Jan 7;19(1):146-54. doi: 10.1016/j.cmet.2013.11.021. Cell Metab. 2014. PMID: 24411943 Free PMC article.
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S. Houghton JA, et al. Among authors: de franco e. Diabetes. 2016 Sep;65(9):2810-5. doi: 10.2337/db15-1666. Epub 2016 Jun 9. Diabetes. 2016. PMID: 27284104 Free PMC article.
247 results