D O Robinson

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi The origin of the extra Y chromosome in males with a 47,XYY karyotype
    D O Robinson
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Hum Mol Genet 8:2205-9. 1999
  2. ncbi Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Hum Genet 110:139-44. 2002
  3. ncbi An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission
    J P H Shield
    St Michael s Hill, Bristol BS2 8BJ, UK
    Arch Dis Child Fetal Neonatal Ed 89:F341-3. 2004
  4. ncbi Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region
    S G Kant
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Genet 117:398-401. 2005
  5. ncbi Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ Salisbury, UK
    Hum Genet 119:179-84. 2006
  6. ncbi A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 120:262-9. 2006
  7. ncbi SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
    P 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

Collaborators

Detail Information

Publications7

  1. ncbi The origin of the extra Y chromosome in males with a 47,XYY karyotype
    D 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...
  2. ncbi Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Hum Genet 110:139-44. 2002
    ....
  3. ncbi An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission
    J P H Shield
    St Michael s Hill, Bristol BS2 8BJ, UK
    Arch Dis Child Fetal Neonatal Ed 89:F341-3. 2004
    ....
  4. ncbi Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region
    S 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...
  5. ncbi Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    D 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...
  6. ncbi A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 120:262-9. 2006
    ....
  7. ncbi SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
    P 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
    ....