Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities

This publication has 41 references indexed in Scilit:

• An imprinted locus associated with transient neonatal diabetes mellitus
  Human Molecular Genetics, 2000
• Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus
  Clinical Genetics, 1998
• A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3
  Human Molecular Genetics, 1997
• Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
  Human Molecular Genetics, 1996
• Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes
  Human Molecular Genetics, 1996
• Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8
  Human Molecular Genetics, 1996
• Uniparental maternal disomy 6 in a renal transplant patient
  Human Immunology, 1996
• Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndrome
  Human Molecular Genetics, 1995
• Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
  Journal of Medical Genetics, 1990
• The syndrome of transient diabetes
  The Journal of Pediatrics, 1962