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201 results

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Page 1
A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
Papadimitriou DT, Kleanthous K, Manolakos E, Tiulpakov A, Nikolopoulos T, Delides A, Voros G, Dinopoulos A, Zoupanos G, Papadimitriou A, Mastorakos G, Urano F. Papadimitriou DT, et al. Among authors: urano f. Clin Case Rep. 2019 Oct 23;7(12):2355-2357. doi: 10.1002/ccr3.2494. eCollection 2019 Dec. Clin Case Rep. 2019. PMID: 31893057 Free PMC article.
Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.
Papadimitriou DT, Manolakos E, Bothou C, Zoupanos G, Papoulidis I, Orru S, Skarmoutsos F, Delides A, Bakoula C, Papadimitriou A, Urano F. Papadimitriou DT, et al. Among authors: urano f. Diabetes Metab. 2015 Nov;41(5):433-5. doi: 10.1016/j.diabet.2015.06.003. Epub 2015 Jul 10. Diabetes Metab. 2015. PMID: 26169481 No abstract available.
Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting Due to Elevated ANP/BNP Levels, Rescued by Fludrocortisone Treatment.
Kleanthous K, Maratou E, Spyropoulou D, Dermitzaki E, Papadimitriou A, Zoupanos G, Moutsatsou P, Mastorakos G, Urano F, Papadimitriou DT. Kleanthous K, et al. Among authors: urano f. Indian J Pediatr. 2021 Jun;88(6):582-585. doi: 10.1007/s12098-020-03538-y. Epub 2020 Nov 18. Indian J Pediatr. 2021. PMID: 33206325
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T; Washington University Wolfram Syndrome Research Study Group. Lugar HM, et al. Among authors: urano f. Sci Rep. 2016 Feb 18;6:21167. doi: 10.1038/srep21167. Sci Rep. 2016. PMID: 26888576 Free PMC article. Clinical Trial.
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M. Bonnycastle LL, et al. Among authors: urano f. Diabetes. 2013 Nov;62(11):3943-50. doi: 10.2337/db13-0571. Epub 2013 Jul 31. Diabetes. 2013. PMID: 23903355 Free PMC article.
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. De Franco E, et al. Among authors: urano f. Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3. Diabetes. 2017. PMID: 28468959 Free PMC article.
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, Brown CM, Kries K, Onwumere C, Gu H, Hoekel J, Tychsen L, Van Stavern GP, White NH, Marshall BA, Hershey T, Urano F. Abreu D, et al. Among authors: urano f. JCI Insight. 2021 Aug 9;6(15):e145188. doi: 10.1172/jci.insight.145188. JCI Insight. 2021. PMID: 34185708 Free PMC article. Clinical Trial.
201 results