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Page 1
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: dastamani a. 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.
Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.
Shaikh MG, Lucas-Herald AK, Dastamani A, Salomon Estebanez M, Senniappan S, Abid N, Ahmad S, Alexander S, Avatapalle B, Awan N, Blair H, Boyle R, Chesover A, Cochrane B, Craigie R, Cunjamalay A, Dearman S, De Coppi P, Erlandson-Parry K, Flanagan SE, Gilbert C, Gilligan N, Hall C, Houghton J, Kapoor R, McDevitt H, Mohamed Z, Morgan K, Nicholson J, Nikiforovski A, O'Shea E, Shah P, Wilson K, Worth C, Worthington S, Banerjee I. Shaikh MG, et al. Among authors: dastamani a. Front Endocrinol (Lausanne). 2023 Oct 30;14:1231043. doi: 10.3389/fendo.2023.1231043. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38027197 Free PMC article. Review.
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Kostopoulou E, Dastamani A, Güemes M, Clement E, Caiulo S, Shanmugananda P, Dattani M, Gilbert C, Hurst JA, Shah P. Kostopoulou E, et al. Among authors: dastamani a. Clin Endocrinol (Oxf). 2021 Mar;94(3):399-412. doi: 10.1111/cen.14393. Epub 2021 Jan 31. Clin Endocrinol (Oxf). 2021. PMID: 33345357
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ. Kiparissi F, et al. Among authors: dastamani a. Hum Genet. 2023 May;142(5):697-704. doi: 10.1007/s00439-023-02523-7. Epub 2023 Feb 11. Hum Genet. 2023. PMID: 36773065 Free PMC article.
Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1.
Sotiridou E, Hoermann H, Aftab S, Dastamani A, Thimm E, Doodson L, Batzios S, Kummer S, Shah P. Sotiridou E, et al. Among authors: dastamani a. Endocrinol Diabetes Metab Case Rep. 2021 Jan 11;2021:20-0174. doi: 10.1530/EDM-20-0174. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2021. PMID: 33431709 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: dastamani a. Eur J Endocrinol. 2022 Feb 22;186(4):417-427. doi: 10.1530/EJE-21-0897. Eur J Endocrinol. 2022. PMID: 35089870
24 results