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Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.
Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O''Rahilly S, Gorden P, Semple RK, Bockenhauer D. Simpkin A, et al. Among authors: harris j. Nephron Physiol. 2014;128(3-4):55-61. doi: 10.1159/000366225. Epub 2014 Oct 24. Nephron Physiol. 2014. PMID: 25358339 Free PMC article.
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O'Rahilly S, Barroso I, Semple RK. Huang-Doran I, et al. Among authors: harris j. JCI Insight. 2016 Oct 20;1(17):e88766. doi: 10.1172/jci.insight.88766. JCI Insight. 2016. PMID: 27766312 Free PMC article.
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK. Leiter SM, et al. Among authors: harris j. Eur J Endocrinol. 2017 Aug;177(2):175-186. doi: 10.1530/EJE-17-0132. Epub 2017 May 31. Eur J Endocrinol. 2017. PMID: 28566443 Free PMC article.
Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance.
Huang-Doran I, Kinzer AB, Jimenez-Linan M, Thackray K, Harris J, Adams CL, de Kerdanet M, Stears A, O'Rahilly S, Savage DB, Gorden P, Brown RJ, Semple RK. Huang-Doran I, et al. Among authors: harris j. J Clin Endocrinol Metab. 2021 Jul 13;106(8):2367-2383. doi: 10.1210/clinem/dgab275. J Clin Endocrinol Metab. 2021. PMID: 33901270 Free PMC article.
An activating mutation of AKT2 and human hypoglycemia.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Among authors: harris j. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.
Assessment and Management of Anti-Insulin Autoantibodies in Varying Presentations of Insulin Autoimmune Syndrome.
Church D, Cardoso L, Kay RG, Williams CL, Freudenthal B, Clarke C, Harris J, Moorthy M, Karra E, Gribble FM, Reimann F, Burling K, Williams AJK, Munir A, Jones TH, Führer D, Moeller LC, Cohen M, Khoo B, Halsall D, Semple RK. Church D, et al. Among authors: harris j. J Clin Endocrinol Metab. 2018 Oct 1;103(10):3845-3855. doi: 10.1210/jc.2018-00972. J Clin Endocrinol Metab. 2018. PMID: 30085133 Free PMC article.
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Rocha N, et al. Among authors: harris j. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813. Elife. 2017. PMID: 28414270 Free PMC article.
9,652 results