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Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.
Front Endocrinol (Lausanne). 2022 Jul 7;13:873254. doi: 10.3389/fendo.2022.873254. eCollection 2022.
Front Endocrinol (Lausanne). 2022.
PMID: 35872984
Free PMC article.
Review.
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
Hewat TI, Yau D, Jerome JCS, Laver TW, Houghton JAL, Shields BM, Flanagan SE, Patel KA.
Hewat TI, et al.
Eur J Endocrinol. 2021 Oct 30;185(6):813-818. doi: 10.1530/EJE-21-0476.
Eur J Endocrinol. 2021.
PMID: 34633981
Free PMC article.
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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.
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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: hewat ti.
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.
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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: hewat ti.
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.
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