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Journal Abstract Search

843 related items for PubMed ID: 17407387

  • 1. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
    Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT.
    PLoS Med; 2007 Apr; 4(4):e118. PubMed ID: 17407387
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  • 5. 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.
    Eur J Endocrinol; 2022 Feb 22; 186(4):417-427. PubMed ID: 35089870
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  • 6. The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.
    McGlacken-Byrne SM, Hawkes CP, Flanagan SE, Ellard S, McDonnell CM, Murphy NP.
    Diabet Med; 2014 Jan 22; 31(1):e1-5. PubMed ID: 23796040
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  • 8. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
    Stanescu DE, Hughes N, Kaplan B, Stanley CA, De León DD.
    J Clin Endocrinol Metab; 2012 Oct 22; 97(10):E2026-30. PubMed ID: 22802087
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  • 9. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
    Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S.
    Hum Mutat; 2013 May 22; 34(5):669-85. PubMed ID: 23348805
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  • 10. Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.
    Conn JJ, Simm PJ, Oats JJ, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT.
    Aust N Z J Obstet Gynaecol; 2009 Jun 22; 49(3):328-30. PubMed ID: 19566570
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  • 11. Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).
    Fajans SS, Bell GI.
    Diabetologia; 2007 Dec 22; 50(12):2600-1. PubMed ID: 17891372
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  • 14. HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.
    Dusátková P, Průhová S, Sumník Z, Kolousková S, Obermannová B, Cinek O, Lebl J.
    J Pediatr Endocrinol Metab; 2011 Dec 22; 24(5-6):377-9. PubMed ID: 21823540
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  • 15. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
    Ellard S, Colclough K.
    Hum Mutat; 2006 Sep 22; 27(9):854-69. PubMed ID: 16917892
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  • 18. Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes.
    Shankar RK, Ellard S, Standiford D, Pihoker C, Gilliam LK, Hattersley A, Dolan LM.
    Pediatr Diabetes; 2013 Nov 22; 14(7):535-8. PubMed ID: 23551881
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  • 19. High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
    Rozenkova K, Malikova J, Nessa A, Dusatkova L, Bjørkhaug L, Obermannova B, Dusatkova P, Kytnarova J, Aukrust I, Najmi LA, Rypackova B, Sumnik Z, Lebl J, Njølstad PR, Hussain K, Pruhova S.
    J Clin Endocrinol Metab; 2015 Dec 22; 100(12):E1540-9. PubMed ID: 26431509
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