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9,652 results

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Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group; Vabres P, Semple RK, Biesecker LG. Parker VER, et al. Among authors: harris j. Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1. Genet Med. 2019. PMID: 30270358 Free PMC article.
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Among authors: harris j. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 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.
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.
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