Literature DB >> 21537110

Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene.

C Colombo, C Geraci, T Suprani, M Pocecco, F Barbetti.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21537110     DOI： 10.1007/BF03347074

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


× No keyword cloud information.
  8 in total

1.  Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.

Authors:  Jennifer J Conn; Peter J Simm; Jeremy J N Oats; Alison J Nankervis; Susan E Jacobs; Sian Ellard; Andrew T Hattersley
Journal:  Aust N Z J Obstet Gynaecol       Date:  2009-06       Impact factor: 2.100

2.  Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.

Authors:  T Lindner; C Gragnoli; H Furuta; B N Cockburn; C Petzold; H Rietzsch; U Weiss; J Schulze; G I Bell
Journal:  J Clin Invest       Date:  1997-09-15       Impact factor: 14.808

3.  International Expert Committee report on the role of the A1C assay in the diagnosis of diabetes.

Authors: 
Journal:  Diabetes Care       Date:  2009-06-05       Impact factor: 17.152

4.  Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

Authors:  S E Flanagan; R R Kapoor; G Mali; D Cody; N Murphy; B Schwahn; T Siahanidou; I Banerjee; T Akcay; O Rubio-Cabezas; J P H Shield; K Hussain; S Ellard
Journal:  Eur J Endocrinol       Date:  2010-02-17       Impact factor: 6.664

5.  Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).

Authors:  S S Fajans; G I Bell
Journal:  Diabetologia       Date:  2007-09-22       Impact factor: 10.122

6.  Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Authors:  Sara E Pinney; Courtney MacMullen; Susan Becker; Yu-Wen Lin; Cheryl Hanna; Paul Thornton; Arupa Ganguly; Show-Ling Shyng; Charles A Stanley
Journal:  J Clin Invest       Date:  2008-08       Impact factor: 14.808

7.  Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Authors:  Ritika R Kapoor; Jonathan Locke; Kevin Colclough; Jerry Wales; Jennifer J Conn; Andrew T Hattersley; Sian Ellard; Khalid Hussain
Journal:  Diabetes       Date:  2008-02-11       Impact factor: 9.461

8.  Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Authors:  Ewan R Pearson; Sylvia F Boj; Anna M Steele; Timothy Barrett; Karen Stals; Julian P Shield; Sian Ellard; Jorge Ferrer; Andrew T Hattersley
Journal:  PLoS Med       Date:  2007-04       Impact factor: 11.069
  8 in total
  2 in total

Review 1.  Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.

Authors:  Kevin Perge; Marc Nicolino
Journal:  Rev Endocr Metab Disord       Date:  2022-08-23       Impact factor: 9.306

Review 2.  Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.

Authors:  M Shepherd; A J Brook; A J Chakera; A T Hattersley
Journal:  Diabet Med       Date:  2017-06-13       Impact factor: 4.359
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.