- [Insulin-dependent neonatal and infant diabetes: genetics and physiopathology]Catherine Diatloff-Zito
INSERM U383, Groupe Hospitalier Necker Enfants Malades, 149 161, rue de Sevres, 75743 Paris, France
Pathol Biol (Paris) 50:233-42. 2002..Mutation in the Glucokinase gene should be sought in an infant with ND whose first degree relatives have glucose intolerance...
- Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical regionC Diatloff-Zito
INSERM U781, Universite Paris 5, Paris, France
J Med Genet 44:31-7. 2007..It can be associated with chromosome 6 paternal uniparental disomy (UPD), paternal duplications or loss of maternal methylation at the 6q24 imprinted locus...
- Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneityValérie Senée
Génétique des Maladies Infectieuses et Autoimmunes, INSERM E102, Institut Pasteur, Paris, France
Diabetes 53:1876-83. 2004....
- Developmental methylation program and concerted expression of Stx11 in mouse tissuesGenevieve Marcelin
INSERM U781, Université René Descartes Paris, Hôpital Necker Enfants Malades Clinique Maurice Lamy, 161 rue de Sevres, 75743, Paris Cedex 15, France
Mamm Genome 20:131-9. 2009..Methylation variation and allelic regulation of expression may underlie genetic diversity and contribute to disease susceptibility at the 6q24 locus in humans...
- KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological featuresAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
Eur J Hum Genet 14:824-30. 2006..The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation. These features differ markedly from the neurological consequences of acute or chronic diabetes...