Search results

• 2012

  Germ line Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome

  Tanaka, A., Weinel, S., Nagy, N., O'Driscoll, M., Lai-Cheong, J. E., Kulp-Shorten, C. L., Knable, A., Carpenter, G., Fisher, S. A., Hiragun, M., Yanase, Y., Hide, M., Callen, J. & McGrath, J. A., 9 Mar 2012, In: American Journal of Human Genetics. 90, 3, p. 511 - 517 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Ataxia Telangiectasia and Rad3 Related 100%
  • Genetic Disorder 22%
  • Reduction (Chemistry) 11%
  • Candidate Gene 11%
  • Sequencing 11%
  57 Citations (Scopus)

• Germline mutation in ATR underlying a new autosomal dominant oropharyngeal cancer syndrome

  Tanaka, A., Weinel, S., Nagy, N., O'Driscoll, M., Lai-Cheong, J. E., Kulp-Shorten, C. L., Knable, A., Hide, M., Callen, J. & McGrath, J. A., 2012, In: Journal of Investigative Dermatology. 132, p. S69 - S69

  Research output: Contribution to journal › Meeting abstract
• 2011

  HB-EGF Induces COL7A1 Expression in Keratinocytes and Fibroblasts: Possible Mechanism Underlying Allogeneic Fibroblast Therapy in Recessive Dystrophic Epidermolysis Bullosa

  Nagy, N., Almaani, N., Tanaka, A., Lai-Cheong, J. E., Techanukul, T., Mellerio, J. E. & McGrath, J. A., Aug 2011, In: Journal of Investigative Dermatology. 131, 8, p. 1771 - 1774 4 p.

  Research output: Contribution to journal › Letter › peer-review
  59 Citations (Scopus)

• Intra-familial Variability of Ectodermal Defects Associated with WNT10A Mutations

  Wedgeworth, E. K., Nagy, N., White, J. M. L., Pembroke, A. C. & McGrath, J. A., May 2011, In: Acta Dermato-Venereologica. 91, 3, p. 346 - 347 2 p.

  Research output: Contribution to journal › Letter › peer-review
  19 Citations (Scopus)
• 2010

  Allogeneic fibroblast therapy in RDEB may induce mutant type VII collagen synthesis by keratinocytes through up-regulation of HBEGF.

  Nagy, N., Almaani, N., Tanaka, A., Techanukul, T. & McGrath, J., 2010, In: Journal of Investigative Dermatology. 130, p. S79 - S79

  Research output: Contribution to journal › Meeting abstract

• Common IL-31 Gene Haplotype Associated with Non-atopic Eczema is Not Implicated in Epidermolysis Bullosa Pruriginosa

  Nagy, N., Tanaka, A., Techanukul, T. & McGrath, J. A., 2010, In: Acta Dermato-Venereologica. 90, 6, p. 631 - 632 2 p.

  Research output: Contribution to journal › Letter › peer-review
  12 Citations (Scopus)

• Identification of a Homozygous Deletion Mutation in C16orf57 in a Family With Clericuzio-Type Poikiloderma With Neutropenia

  Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A. & McGrath, J., Jun 2010, In: American Journal of Medical Genetics. Part A. 152A, 6, p. 1347 - 1348 2 p.

  Research output: Contribution to journal › Letter › peer-review
  23 Citations (Scopus)

• New insights into hereditary angio-oedema: Molecular diagnosis and therapy

  Nagy, N., Grattan, C. E. & McGrath, J. A., Aug 2010, In: Australasian Journal of Dermatology. 51, 3, p. 157 - 162 6 p.

  Research output: Contribution to journal › Literature review › peer-review

  • Molecular Diagnosis 100%
  • Angioedema 100%
  • Molecular Therapy 100%
  • Gene 22%
  • Complement Component C1s Inhibitor 22%
  11 Citations (Scopus)

• Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa

  Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. J. C., Lai-Cheong, J. E., Clements, S. E., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., Jul 2010, In: Journal of Investigative Dermatology. 130, 7, p. 1937 - 1940 4 p.

  Research output: Contribution to journal › Letter › peer-review
  54 Citations (Scopus)

• Revertant mosaicism in recessive dystrophic epidermolysis bullosa due to intragenic crossover in the COL7A1 gene

  Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. D. C., Lai-Cheong, J. E., Clements, S., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., 2010, In: British Journal of Dermatology. 162, 4, p. 940 - 940 1 p.

  Research output: Contribution to journal › Meeting abstract

• Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A

  Nagy, N., Wedgeworth, E., Hamada, T., White, J. M., Hashimoto, T. & McGrath, J. A., Jun 2010, In: Journal of Dermatological Science. 58, 3, p. 220 - 222 3 p.

  Research output: Contribution to journal › Letter › peer-review
  33 Citations (Scopus)

• The molecular skin pathology of familial primary localized cutaneous amyloidosis

  Tanaka, A., Lai-Cheong, J. E., van den Akker, P. C., Nagy, N., Millington, G., Diercks, G. F. H., Vader, P. C. V. V., Clements, S. E., Almaani, N., Techanukul, T., Hide, M., South, A. P. & McGrath, J. A., May 2010, In: Experimental Dermatology. 19, 5, p. 416 - 423 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Genetics 24%
  • Protein 24%
  • Reduction (Chemistry) 24%
  • Quantitative Reverse Transcription Polymerase Chain Reaction 24%
  34 Citations (Scopus)
• 2009

  Novel mutations in the oncostatin M receptor-beta underlie familial primary localized cutaneous amyloidosis

  Tanaka, A., Lai-Cheong, J. E., Nagy, N., Van den Akker, P., Palisson, F., Millington, G. & McGrath, J. A., 2009, In: Journal of Investigative Dermatology. 129, p. S81 - S81

  Research output: Contribution to journal › Meeting abstract
  18 Citations (Scopus)

• Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

  Nagy, N., Greaves, M. W., Tanaka, A., McGrath, J. A. & Grattan, C. E., Oct 2009, In: Journal of Dermatological Science. 56, 1, p. 62 - 64 3 p.

  Research output: Contribution to journal › Letter › peer-review
  20 Citations (Scopus)

• Recurrent European missense mutation in the F12 gene underlying type III hereditary angio-oedema

  Nagy, N., Greaves, M. W., Tanaka, A., McGrath, J. A. & Grattan, C. E., 2009, In: Journal of Investigative Dermatology. 129, p. S54 - S54

  Research output: Contribution to journal › Meeting abstract