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Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC. Hanson D, et al. Among authors: skae m. Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028. Epub 2011 Jul 7. Am J Hum Genet. 2011. PMID: 21737058 Free PMC article.
The association of cardiac ventricular hypertrophy with congenital hyperinsulinism.
Banerjee I, Avatapalle B, Petkar A, Skae M, Padidela R, Ehtisham S, Patel L, Rigby L, Flanagan S, Ellard S, Jones C, Ciotti G, Malaiya N, Clayton PE. Banerjee I, et al. Among authors: skae m. Eur J Endocrinol. 2012 Nov;167(5):619-24. doi: 10.1530/EJE-12-0632. Epub 2012 Aug 15. Eur J Endocrinol. 2012. PMID: 22894813
Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism.
Avatapalle HB, Banerjee I, Shah S, Pryce M, Nicholson J, Rigby L, Caine L, Didi M, Skae M, Ehtisham S, Patel L, Padidela R, Cosgrove KE, Dunne MJ, Clayton PE. Avatapalle HB, et al. Among authors: skae m. Front Endocrinol (Lausanne). 2013 May 20;4:60. doi: 10.3389/fendo.2013.00060. eCollection 2013. Front Endocrinol (Lausanne). 2013. PMID: 23730298 Free PMC article.
Reduced Glycemic Variability in Diazoxide-Responsive Children with Congenital Hyperinsulinism Using Supplemental Omega-3-Polyunsaturated Fatty Acids; A Pilot Trial with MaxEPA(R.).
Skae M, Avatapalle HB, Banerjee I, Rigby L, Vail A, Foster P, Charalambous C, Bowden L, Padidela R, Patel L, Ehtisham S, Cosgrove KE, Dunne MJ, Clayton PE. Skae M, et al. Front Endocrinol (Lausanne). 2014 Mar 12;5:31. doi: 10.3389/fendo.2014.00031. eCollection 2014. Front Endocrinol (Lausanne). 2014. PMID: 24659984 Free PMC article.
Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects.
Shi Y, Avatapalle HB, Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE, Dunne MJ, Banerjee I, Cosgrove KE. Shi Y, et al. Among authors: skae ms. J Pediatr. 2015 Jan;166(1):191-4. doi: 10.1016/j.jpeds.2014.09.019. Epub 2014 Oct 23. J Pediatr. 2015. PMID: 25444530 Free article.
Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.
Banerjee I, Forsythe L, Skae M, Avatapalle HB, Rigby L, Bowden LE, Craigie R, Padidela R, Ehtisham S, Patel L, Cosgrove KE, Dunne MJ, Clayton PE. Banerjee I, et al. Among authors: skae m. Front Endocrinol (Lausanne). 2016 Feb 9;7:8. doi: 10.3389/fendo.2016.00008. eCollection 2016. Front Endocrinol (Lausanne). 2016. PMID: 26903946 Free PMC article.
38 results