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33 results

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Page 1
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: houghton jal. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
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.
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S. Houghton JA, et al. Diabetes. 2016 Sep;65(9):2810-5. doi: 10.2337/db15-1666. Epub 2016 Jun 9. Diabetes. 2016. PMID: 27284104 Free PMC article.
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.
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.
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
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.
Zegre Amorim M, Houghton JA, Carmo S, Salva I, Pita A, Pereira-da-Silva L. Zegre Amorim M, et al. Among authors: houghton ja. Case Rep Genet. 2015;2015:937201. doi: 10.1155/2015/937201. Epub 2015 Dec 3. Case Rep Genet. 2015. PMID: 26770845 Free PMC article.
33 results