No photo of Agi Gedeon
  • The University of Western Australia (M358), 35 Stirling Highway,

    6009 Perth

    Australia

  • The University of Western Australia (M429), 35 Stirling Highway,

    6009 Perth

    Australia

  • 3584 Citations
  • 30 h-Index
1985 …2017
If you made any changes in Pure these will be visible here soon.

Personal profile

Research



https://scholar.google.com.au/citations?hl=en&user=ZKh4Oi4AAAAJ&view_op=list_works

Fingerprint Dive into the research topics where Agi Gedeon is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
X-Linked Mental Retardation Medicine & Life Sciences
Genes Medicine & Life Sciences
Barth Syndrome Medicine & Life Sciences
Lod Score Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Genetic Recombination Medicine & Life Sciences
X Chromosome Medicine & Life Sciences

Research Output 1985 2017

cropPAL2: Creating Ongoing, Mutually Beneficial Collaboration Between Biological Scientists and Librarians

Black, K., Hooper, C., Gedeon, A. K., Toufexis, K., Albatis, M., Nicholls, S. & Millar, A., 2017, cropPAL2: Creating Ongoing, Mutually Beneficial Collaboration Between Biological Scientists and Librarians.

Research output: Chapter in Book/Conference paperConference paper

29 Citations (Scopus)

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K. & Pitt, J. J., 1 Oct 2006, In : Journal of Lipid Research. 47, 10, p. 2346-2351 6 p.

Research output: Contribution to journalArticle

Barth Syndrome
Cardiolipins
Fibroblasts
Metabolism
Skin
94 Citations (Scopus)

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Davis, M. R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., Sanchez, A., Walsh, P., Nagarajan, L., Oley, C., Colley, A., Gedeon, A., Quinlivan, R., Dixon, J., James, D., Muller, C. R. & 1 othersLaing, N., 2003, In : Neuromuscular Disorders. 13, 2, p. 151-157

Research output: Contribution to journalArticle

Central Core Myopathy
Muscular Diseases
Mutation
Nemaline Myopathies
Myotonia Congenita
13 Citations (Scopus)

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22

Turner, G., Gedeon, A., Kerr, B., Bennett, R., Mulley, J. & Partington, M., 15 Mar 2003, In : Am J Med Genet A. 117A, 3, p. 245-50 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Genes
Lod Score
Chin
Mutation
48 Citations (Scopus)

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

Gedeon, A. K., Nelson, J., Gécz, J. & Mulley, J. C., 1 Aug 2003, In : Am J Med Genet A. 120A, 4, p. 509-17 9 p.

Research output: Contribution to journalArticle

Missense Mutation
Intellectual Disability
X-Linked Mental Retardation
Lod Score
X-Linked Genes