Affiliation: National Institute for Medical Research
- Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISHK Woodward
Molecular Genetics Unit, Institute of Child Health, Guy s Hosptial, London, United Kingdom
Am J Hum Genet 63:207-17. 1998..Since duplications are a major cause of PMD, we propose that interphase FISH is a reliable method for diagnosis and identification of female carriers...
- Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in miceK Woodward
Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London, UK WC1N 1EH
Trends Genet 15:125-8. 1999..Investigating the molecular basis of PMD in patients and animal models is furthering our understanding of the disease, dosage sensitivity and proteolipid protein function during myelinogenesis...
- Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP geneK Woodward
Molecular Genetics Unit, Institute of Child Health, University College London, UK
Prenat Diagn 19:266-8. 1999..The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus Merzbacher disease, but neither the aunt nor the fetus carried a duplication...
- X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutationsK Woodward
Molecular Genetics Unit, Institute of Child Health, London, UK
Eur J Hum Genet 8:449-54. 2000....
- CNS myelination and PLP gene dosageK Woodward
Clinical Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK
Pharmacogenomics 2:263-72. 2001..Genome sequencing may identify intrinsic structural properties of the DNA with greater susceptibility to these rearrangements and thereby reflect structural changes in the genome...