These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 33031054)

  • 21. Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
    Sheppard SE; Barrett B; Muraresku C; McKnight H; De Leon DD; Lord K; Ganetzky R
    Am J Med Genet A; 2021 Feb; 185(2):566-570. PubMed ID: 33251707
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A Novel
    Chandran S; Rajadurai VS; Hoi WH; Flanagan SE; Hussain K; Yap F
    Front Pediatr; 2020; 8():320. PubMed ID: 32670997
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.
    Tung JY; Boodhansingh K; Stanley CA; De León DD
    Pediatr Diabetes; 2018 Aug; 19(5):910-916. PubMed ID: 29493090
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Congenital hyperinsulinism due to mutations in HNF4A and HADH.
    Kapoor RR; Heslegrave A; Hussain K
    Rev Endocr Metab Disord; 2010 Sep; 11(3):185-91. PubMed ID: 20931292
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
    Perge K; Nicolino M
    Rev Endocr Metab Disord; 2022 Oct; 23(5):1063-1078. PubMed ID: 35996042
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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
    J Clin Endocrinol Metab; 2023 Feb; 108(3):680-687. PubMed ID: 36239000
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
    Männistö JME; Maria M; Raivo J; Kuulasmaa T; Otonkoski T; Huopio H; Laakso M
    J Clin Endocrinol Metab; 2020 Apr; 105(4):. PubMed ID: 32170320
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
    Kaci A; Solheim MH; Silgjerd T; Hjaltadottir J; Hornnes LH; Molnes J; Madsen A; Sjøholt G; Bellanné-Chantelot C; Caswell R; Sagen JV; Njølstad PR; Aukrust I; Bjørkhaug L
    Hum Mol Genet; 2024 May; 33(10):894-904. PubMed ID: 38433330
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.
    Roženková K; Güemes M; Shah P; Hussain K
    J Clin Res Pediatr Endocrinol; 2015 Jun; 7(2):86-97. PubMed ID: 26316429
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
    Bennett JT; Vasta V; Zhang M; Narayanan J; Gerrits P; Hahn SH
    Mol Genet Metab; 2015 Mar; 114(3):451-8. PubMed ID: 25555642
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.
    Raicevic M; Milenkovic T; Hussain K; Djordjevic M; Martic J; Todorovic S; Mitrovic K; Sarajlija A; Vukovic R
    Eur J Pediatr; 2021 Sep; 180(9):2815-2821. PubMed ID: 33770274
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.
    Numakura C; Hashimoto Y; Daitsu T; Hayasaka K; Mitsui T; Yorifuji T
    Diabetes Res Clin Pract; 2015 Jun; 108(3):e53-5. PubMed ID: 25819479
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature].
    Fernandez Alvarez JR; Rabe H; Wilichowski E; Pekrun A
    Klin Padiatr; 2006; 218(4):233-6. PubMed ID: 16819706
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Heterozygous Insulin Receptor
    Sethi A; Foulds N; Ehtisham S; Ahmed SH; Houghton J; Colclough K; Didi M; Flanagan SE; Senniappan S
    J Clin Res Pediatr Endocrinol; 2020 Nov; 12(4):420-426. PubMed ID: 31989990
    [TBL] [Abstract][Full Text] [Related]  

  • 35. "Please see this man with a 69-year history of hypoglycaemia".
    Gifford RM; Foteinopoulou E; Strachan MWJ
    J R Coll Physicians Edinb; 2021 Sep; 51(3):266-268. PubMed ID: 34528616
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young.
    Beijers HJ; Losekoot M; Odink RJ; Bravenboer B
    Diabet Med; 2009 Nov; 26(11):1172-4. PubMed ID: 19929997
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.
    Palladino AA; Bennett MJ; Stanley CA
    Clin Chem; 2008 Feb; 54(2):256-63. PubMed ID: 18156285
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Siblings With
    Wolschendorf R; Eimicke T; Swartz J
    JCEM Case Rep; 2023 Jul; 1(4):luad089. PubMed ID: 37908999
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 27(9):854-69. PubMed ID: 16917892
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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; 49(3):328-30. PubMed ID: 19566570
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.