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Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
Strakova V, Elblova L, Johnson MB, Dusatkova P, Obermannova B, Petruzelkova L, Kolouskova S, Snajderova M, Fronkova E, Svaton M, Lebl J, Hattersley AT, Sumnik Z, Pruhova S. Strakova V, et al. Among authors: johnson mb. J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1147-1153. doi: 10.1515/jpem-2019-0261. J Pediatr Endocrinol Metab. 2019. PMID: 31483759 Clinical Trial.
Monogenic autoimmune diseases of the endocrine system.
Johnson MB, Hattersley AT, Flanagan SE. Johnson MB, et al. Lancet Diabetes Endocrinol. 2016 Oct;4(10):862-72. doi: 10.1016/S2213-8587(16)30095-X. Epub 2016 Jul 26. Lancet Diabetes Endocrinol. 2016. PMID: 27474216 Review.
Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations.
Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ. Johnson MB, et al. Clin Chem. 2016 Nov;62(11):1536-1538. doi: 10.1373/clinchem.2016.263624. Epub 2016 Sep 8. Clin Chem. 2016. PMID: 27608644 Free PMC article. No abstract available.
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: johnson mb. Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3. Diabetes. 2017. PMID: 28468959 Free PMC article.
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Johnson MB, et al. Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Diabetes. 2017. PMID: 28473463 Free PMC article.
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Patel KA, et al. Among authors: johnson mb. Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9. Nat Commun. 2017. PMID: 29026101 Free PMC article.
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, Hattersley A, Ellard S, Mula-Abed WA. Al Senani A, et al. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195-204. doi: 10.1515/jpem-2017-0284. J Pediatr Endocrinol Metab. 2018. PMID: 29329106 Free PMC article.
380 results