ArticleDiabetologia2007
Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).
Article in Diabetologia, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.Reviews in endocrine & metabolic disorders · 2022Pooled it
- Antenatal management ofJCEM case reports · 2026Article
- Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.Irish journal of medical science · 2025Article
- Case report: A novelFrontiers in endocrinology · 2024Article
- Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.Genes · 2022Review
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
- Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.Diabetic medicine : a journal of the British Diabetic Association · 2017Review
- Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.International journal of pediatric endocrinology · 2017Review
- The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice.American journal of perinatology · 2016Review
- [Maturity onset diabetes of the young (MODY) - screening, diagnostic and therapy].Wiener klinische Wochenschrift · 2016Review
- Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.Frontiers in endocrinology · 2016Review
- The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.Indian journal of endocrinology and metabolism · 2013Article
- Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Journal of inherited metabolic disease · 2012Review
- MODY: history, genetics, pathophysiology, and clinical decision making.Diabetes care · 2011Review
- Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene.Journal of endocrinological investigation · 2011Article
- Congenital hyperinsulinism due to mutations in HNF4A and HADH.Reviews in endocrine & metabolic disorders · 2010Review
- The role of noise and positive feedback in the onset of autosomal dominant diseases.BMC systems biology · 2010Article
- Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.European journal of endocrinology · 2010Article
- Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.Diabetologia · 2008Article
- A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.Case reports in nephrology and dialysisArticle
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Abstract
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.