G Rumsby

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Experience in prenatal diagnosis of primary hyperoxaluria type 1
    G Rumsby
    Department of Chemical Pathology UCL Hospitals, London, United Kingdon
    J Nephrol 11:13-4. 1998
  2. ncbi request reprint Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms
    G Rumsby
    Department of Chemical Pathology, University College London Medical School, UK
    Clin Endocrinol (Oxf) 48:707-11. 1998
  3. ncbi request reprint Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?
    F Oberender
    Department of Paediatric Endocrinology and Clinical Biochemistry, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Horm Res 62:241-4. 2004
  4. ncbi request reprint Biochemical and genetic diagnosis of the primary hyperoxalurias: a review
    G Rumsby
    Chemical Pathology, UCL Hospitals, London, England, UK
    Mol Urol 4:349-54. 2000
  5. ncbi request reprint Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia
    B Masturzo
    Academic Department of Obstetrics and Gynaecology, University College London Hospitals, London, UK
    Prenat Diagn 21:314-6. 2001
  6. ncbi request reprint 17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood
    O D Wolthers
    London Centre for Paediatric Endocrinology and Metabolism, University College London Hospitals, London, UK
    Horm Res 57:133-6. 2002

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Experience in prenatal diagnosis of primary hyperoxaluria type 1
    G Rumsby
    Department of Chemical Pathology UCL Hospitals, London, United Kingdon
    J Nephrol 11:13-4. 1998
    ..The methods, which use a combination of linked polymorphisms and detection of the two most common mutations, have a diagnostic accuracy of > 99% and can be performed in the first trimester of pregnancy...
  2. ncbi request reprint Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms
    G Rumsby
    Department of Chemical Pathology, University College London Medical School, UK
    Clin Endocrinol (Oxf) 48:707-11. 1998
    ....
  3. ncbi request reprint Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?
    F Oberender
    Department of Paediatric Endocrinology and Clinical Biochemistry, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Horm Res 62:241-4. 2004
    ..5 years. Because of actual or incipient virilization, both patients were treated with glucocorticoid replacement 8-12 mg/m(2)/day. This decision is discussed in the context of published guidelines for the management of 21OHD...
  4. ncbi request reprint Biochemical and genetic diagnosis of the primary hyperoxalurias: a review
    G Rumsby
    Chemical Pathology, UCL Hospitals, London, England, UK
    Mol Urol 4:349-54. 2000
    ..While genetic analysis of PH2 is still at a relatively early stage, the AGXT gene defective in the Type 1 disorder is well characterized, and a number of mutations have been identified...
  5. ncbi request reprint Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia
    B Masturzo
    Academic Department of Obstetrics and Gynaecology, University College London Hospitals, London, UK
    Prenat Diagn 21:314-6. 2001
    ..These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency...
  6. ncbi request reprint 17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood
    O D Wolthers
    London Centre for Paediatric Endocrinology and Metabolism, University College London Hospitals, London, UK
    Horm Res 57:133-6. 2002
    ..No mutations in the CYP 17 gene were found in any of the girls...