D O Robinson
Affiliation: National Institute for Medical Research
- The origin of the extra Y chromosome in males with a 47,XYY karyotypeD O Robinson
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
Hum Mol Genet 8:2205-9. 1999..Of the nine cases with no parental DNA available, at least four were due to meiosis II non-disjunction following a normal chiasmate meiosis I...
- Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitusD J G Mackay
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
Hum Genet 110:139-44. 2002....
- An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remissionJ P H Shield
St Michael s Hill, Bristol BS2 8BJ, UK
Arch Dis Child Fetal Neonatal Ed 89:F341-3. 2004....
- Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated regionS G Kant
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Genet 117:398-401. 2005..Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR...
- Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay
Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ Salisbury, UK
Hum Genet 119:179-84. 2006..5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease...
- A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
Hum Genet 120:262-9. 2006....
- SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsP Bakrania
Dept of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford, OX1 3QX, United Kingdom
Br J Ophthalmol 91:1471-6. 2007....