Emma Wakeling

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. ncbi Central osteosclerosis with trichothiodystrophy
    Emma L Wakeling
    North West Thames Regional Genetics Service, Kennedy Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow HAI 3UJ, Middlesex, UK
    Pediatr Radiol 34:541-6. 2004
  2. ncbi A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome
    Elizabeth Forsythe
    North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust Harrow, Middlesex, United Kingdom
    Am J Med Genet A 149:2075-9. 2009
  3. ncbi Epigenotype-phenotype correlations in Silver-Russell syndrome
    E L Wakeling
    North West Thames Regional Genetic Service, Kennedy Galton Centre, Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, Middlesex HA1 3UJ, UK
    J Med Genet 47:760-8. 2010
  4. ncbi Mild case of Curry-Jones syndrome
    Ellen R A Thomas
    Clinical Genetics, Kennedy Galton Centre, NW Thames Regional Genetics Service, Harrow, UK
    Clin Dysmorphol 15:115-7. 2006
  5. ncbi A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism
    Hermione Race
    North West London Regional Genetics Centre Kennedy Galton Centre, North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK
    Clin Dysmorphol 19:23-7. 2010
  6. ncbi Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption
    Joanna Prothero
    North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK
    Clin Dysmorphol 16:39-41. 2007
  7. ncbi Congenital microgastria in association with Pierre-Robin sequence
    Daniel E Laurie
    Department of Clinical Genetics, Kennedy Galton Centre, Northwick Park and St Mark's NHS Trust, Harrow, Middlesex, UK
    Clin Dysmorphol 17:143-4. 2008

Collaborators

Detail Information

Publications7

  1. ncbi Central osteosclerosis with trichothiodystrophy
    Emma L Wakeling
    North West Thames Regional Genetics Service, Kennedy Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow HAI 3UJ, Middlesex, UK
    Pediatr Radiol 34:541-6. 2004
    ..We review the radiological findings in this and other similar cases and discuss the natural history of these bony changes...
  2. ncbi A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome
    Elizabeth Forsythe
    North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust Harrow, Middlesex, United Kingdom
    Am J Med Genet A 149:2075-9. 2009
    ....
  3. ncbi Epigenotype-phenotype correlations in Silver-Russell syndrome
    E L Wakeling
    North West Thames Regional Genetic Service, Kennedy Galton Centre, Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, Middlesex HA1 3UJ, UK
    J Med Genet 47:760-8. 2010
    ..As many features are non-specific, diagnosis of SRS remains difficult. Studies of patients in whom the molecular diagnosis is confirmed therefore provide valuable clinical information on the condition...
  4. ncbi Mild case of Curry-Jones syndrome
    Ellen R A Thomas
    Clinical Genetics, Kennedy Galton Centre, NW Thames Regional Genetics Service, Harrow, UK
    Clin Dysmorphol 15:115-7. 2006
    ..Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay...
  5. ncbi A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism
    Hermione Race
    North West London Regional Genetics Centre Kennedy Galton Centre, North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK
    Clin Dysmorphol 19:23-7. 2010
    ..These four cases provide additional evidence for a novel, autosomal recessive disorder involving limb and other associated anomalies...
  6. ncbi Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption
    Joanna Prothero
    North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK
    Clin Dysmorphol 16:39-41. 2007
    ..It is possible that these cases represent a severe variant of Adams-Oliver syndrome. We, however, suggest that they may characterize a new, distinct, autosomal recessive syndrome, involving vascular disruption...
  7. ncbi Congenital microgastria in association with Pierre-Robin sequence
    Daniel E Laurie
    Department of Clinical Genetics, Kennedy Galton Centre, Northwick Park and St Mark's NHS Trust, Harrow, Middlesex, UK
    Clin Dysmorphol 17:143-4. 2008