Edinburgh Research Explorer

Prof David FitzPatrick

Programme Leader (Clinical)

  1. 1998
  2. Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

    Bradshaw, N., Brewer, C., FitzPatrick, D., Murray, G., Rodgers, F., Porteous, M. & Campbell, H. 1998 In : European Journal of Human Genetics. 6, 5, p. 445-58 14 p.

    Research output: Contribution to journalArticle

  3. Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: comparison of uptake of testing and characteristics of test applicants

    Holloway, S. M., Porteous, M. E., Fitzpatrick, D. R., Crosbie, A. E., Cetnarskyj, R., Warner, J. & Barron, L. 1998 In : Genetic counseling (Geneva, Switzerland). 9, 2, p. 103-11 9 p.

    Research output: Contribution to journalArticle

  4. 1997
  5. Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder

    FitzPatrick, D. R., Strain, L., Thomas, A. E., Barr, D. G., Todd, A., Smith, N. M. & Scobie, W. G. Aug 1997 In : Journal of Medical Genetics. 34, 8, p. 666-9 4 p.

    Research output: Contribution to journalArticle

  6. The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland

    Donat, R., McNeill, A. S., Fitzpatrick, D. R. & Hargreave, T. B. Jan 1997 In : British journal of urology. 79, 1, p. 74-7 4 p.

    Research output: Contribution to journalArticle

  7. BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland

    Mullen, P., Miller, W. R., Mackay, J., Fitzpatrick, D. R., Langdon, S. P. & Warner, J. P. 1997 In : British Journal of Cancer. 75, 9, p. 1377-1380 4 p.

    Research output: Contribution to journalArticle

  8. 1996
  9. Characterization of a cDNA library enriched for a novel peroxisomal gene

    Fitzpatrick, D. R., Jimenez-Sanchez, G., Germain-Lee, E. & Valle, D. 27 Dec 1996 In : Annals of the New York Academy of Sciences. 804, p. 739-41 3 p.

    Research output: Contribution to journalArticle

  10. A general method for the detection of large CAG repeat expansions by fluorescent PCR

    Warner, J. P., Barron, L. H., Goudie, D., Kelly, K., Dow, D., Fitzpatrick, D. R. & Brock, D. J. Dec 1996 In : Journal of Medical Genetics. 33, 12, p. 1022-6 5 p.

    Research output: Contribution to journalArticle

  11. Zellweger syndrome and associated phenotypes

    FitzPatrick, D. R. Oct 1996 In : Journal of Medical Genetics. 33, 10, p. 863-8 6 p.

    Research output: Contribution to journalArticle

  12. Desmosterolosis: a new inborn error of cholesterol biosynthesis

    Clayton, P., Mills, K., Keeling, J. & FitzPatrick, D. 10 Aug 1996 In : The Lancet. 348, 9024, p. 404

    Research output: Contribution to journalArticle

  13. A new complementation assay for peroxisome-deficient cell lines

    FitzPatrick, D. R. & Valle, D. 1996 In : Journal of inherited metabolic disease. 19, 1, p. 94-5 2 p.

    Research output: Contribution to journalArticle