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Literature DB >> 17891372

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

S S Fajans, G I Bell.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2007 PMID： 17891372 DOI： 10.1007/s00125-007-0833-7

Source DB: PubMed Journal: Diabetologia ISSN： 0012-186X Impact factor: 10.122

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6 in total

Review 1. The Banting Memorial Lecture 1978. Clinical and etiologic heterogeneity of idiopathic diabetes mellitus.

Authors: S S Fajans; M C Cloutier; R L Crowther
Journal: Diabetes Date: 1978-11 Impact factor: 9.461

2. Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.

Authors: S S Fajans; G I Bell
Journal: Diabetologia Date: 2006-02-25 Impact factor: 10.122

3. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.

Authors: M M Byrne; J Sturis; S Menzel; K Yamagata; S S Fajans; M J Dronsfield; S C Bain; A T Hattersley; G Velho; P Froguel; G I Bell; K S Polonsky
Journal: Diabetes Date: 1996-11 Impact factor: 9.461

4. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

Authors: K Yamagata; H Furuta; N Oda; P J Kaisaki; S Menzel; N J Cox; S S Fajans; S Signorini; M Stoffel; G I Bell
Journal: Nature Date: 1996-12-05 Impact factor: 49.962

Review 5. Maturity-onset diabetes of the young.

Authors: S S Fajans; G I Bell; D W Bowden; J B Halter; K S Polonsky
Journal: Life Sci Date: 1994 Impact factor: 5.037

6. 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

6 in total

14 in total

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

Authors: C Colombo; C Geraci; T Suprani; M Pocecco; F Barbetti
Journal: J Endocrinol Invest Date: 2011-03 Impact factor: 4.256

Review 2. Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Authors: Ritika R Kapoor; Amanda Heslegrave; Khalid Hussain
Journal: Rev Endocr Metab Disord Date: 2010-09 Impact factor: 6.514

Review 3. 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

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

Review 1. The Banting Memorial Lecture 1978. Clinical and etiologic heterogeneity of idiopathic diabetes mellitus.

2. Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.

3. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.

4. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

Review 5. Maturity-onset diabetes of the young.

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

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

Review 2. Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Review 3. Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.

Review 4. The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice.

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

Review 6. Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

7. The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.

8. The role of noise and positive feedback in the onset of autosomal dominant diseases.

Review 9. MODY: history, genetics, pathophysiology, and clinical decision making.

10. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.