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Page 1
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
McGlacken-Byrne SM, Mohammad JK, Conlon N, Gubaeva D, Siersbæk J, Schou AJ, Demirbilek H, Dastamani A, Houghton JAL, Brusgaard K, Melikyan M, Christesen H, Flanagan SE, Murphy NP, Shah P. McGlacken-Byrne SM, et al. Among authors: murphy np. Eur J Endocrinol. 2022 Feb 22;186(4):417-427. doi: 10.1530/EJE-21-0897. Eur J Endocrinol. 2022. PMID: 35089870
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield JP, Hussain K, Ellard S. Flanagan SE, et al. Eur J Endocrinol. 2010 May;162(5):987-92. doi: 10.1530/EJE-09-0861. Epub 2010 Feb 17. Eur J Endocrinol. 2010. PMID: 20164212 Free PMC article.
Short stature in child with early-onset diabetes.
Hawkes CP, McGlacken-Byrne SM, Murphy NP. Hawkes CP, et al. Among authors: murphy np. Eur J Pediatr. 2013 Sep;172(9):1255-7. doi: 10.1007/s00431-013-2007-6. Epub 2013 May 5. Eur J Pediatr. 2013. PMID: 23644647
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Hewat TI, Laver TW, Houghton JAL, Männistö JME, Alvi S, Brearey SP, Cody D, Dastamani A, De Los Santos La Torre M, Murphy N, Rami-Merhar B, Wefers B, Huopio H, Banerjee I, Johnson MB, Flanagan SE. Hewat TI, et al. Pediatr Diabetes. 2022 Jun;23(4):457-461. doi: 10.1111/pedi.13333. Epub 2022 Mar 23. Pediatr Diabetes. 2022. PMID: 35294086 Free PMC article.
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove KE, Dunne MJ, Banerjee I. Salomon-Estebanez M, et al. Orphanet J Rare Dis. 2016 Dec 1;11(1):163. doi: 10.1186/s13023-016-0547-3. Orphanet J Rare Dis. 2016. PMID: 27908292 Free PMC article.
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: murphy np. Nat Genet. 2014 Aug;46(8):812-814. doi: 10.1038/ng.3040. Epub 2014 Jul 20. Nat Genet. 2014. PMID: 25038750 Free PMC article.
180 results