Permanent diabetes during the first year of life: multiple gene screening in 54 patients
Open Access
- 10 March 2011
- journal article
- research article
- Published by Springer Science and Business Media LLC in Diabetologia
- Vol. 54 (7), 1693-1701
- https://doi.org/10.1007/s00125-011-2094-8
Abstract
The aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age.This publication has 48 references indexed in Scilit:
- Rfx6 directs islet formation and insulin production in mice and humansNature, 2010
- Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesisProceedings of the National Academy of Sciences of the United States of America, 2010
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencingProceedings of the National Academy of Sciences of the United States of America, 2009
- High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?European Journal of Human Genetics, 2009
- Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live birthsDiabetologia, 2009
- Analysis of Two KCNJ11 Neonatal Diabetes Mutations, V59G and V59A, and the Analogous KCNJ8 I60G SubstitutionOnline Journal of Public Health Informatics, 2009
- Diagnosis and treatment of neonatal diabetes: an United States experience†Pediatric Diabetes, 2008
- Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitusJCI Insight, 2008
- Insulin gene mutations as a cause of permanent neonatal diabetesProceedings of the National Academy of Sciences of the United States of America, 2007
- Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional EffectsAmerican Journal of Human Genetics, 2007