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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. Among authors: murphy n. 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.
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. Among authors: murphy n. 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.
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. Among authors: murphy n. 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.
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S. Flanagan SE, et al. Among authors: murphy n. Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273570 Free PMC article.
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
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. 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.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Among authors: murphy n. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
1,301 results