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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. Laver TW, et al. Among authors: houghton jal. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01593-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605124
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
Hughes AE, Houghton JAL, Bunce B, Chakera AJ, Spyer G, Shepherd MH, Flanagan SE, Hattersley AT. Hughes AE, et al. Among authors: houghton jal. Diabetologia. 2023 Nov;66(11):1997-2006. doi: 10.1007/s00125-023-05982-9. Epub 2023 Aug 31. Diabetologia. 2023. PMID: 37653058 Free PMC article.
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. Wakeling MN, et al. Among authors: houghton jal. Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333503 Free PMC article.
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Hopkins JJ, Childs AJ, Houghton JAL, Hewat TI, Atapattu N, Johnson MB, Patel KA, Laver TW, Flanagan SE. Hopkins JJ, et al. Among authors: houghton jal. J Clin Endocrinol Metab. 2023 Feb 15;108(3):680-687. doi: 10.1210/clinem/dgac604. J Clin Endocrinol Metab. 2023. PMID: 36239000 Free PMC article.
Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism-The UK Perspective.
Dastamani A, Yau D, Gilbert C, Morgan K, De Coppi P, Craigie RJ, Bomanji J, Biassoni L, Sajjan R, Flanagan SE, Houghton JAL, Senniappan S, Didi M, Dunne MJ, Banerjee I, Shah P. Dastamani A, et al. Among authors: houghton jal. J Endocr Soc. 2022 Mar 15;6(6):bvac033. doi: 10.1210/jendso/bvac033. eCollection 2022 Jun 1. J Endocr Soc. 2022. PMID: 35592516 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: houghton jal. 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.
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: houghton jal. Eur J Endocrinol. 2022 Feb 22;186(4):417-427. doi: 10.1530/EJE-21-0897. Eur J Endocrinol. 2022. PMID: 35089870
231 results