Select Publications
Journal articles
2008, 'Mucous membrane pemphigold are laminin 5 antibodies a risk factor for laryngeal involvement', European academy of dermatology and vernereology
,2008, 'Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa', Experimental Dermatology, 17, pp. 553 - 568
,2008, 'Mutation analysis and characterization of COL7A1 mutionations in dystrophic epidermolysis bullosa', Experimental Dermatology, pp. 553 - 568
,2008, 'Mutations in GDF6 are associated with vertebral segmentation defects in klippel-feil syndrome', Human Mutation, 29, pp. 1017 - 1027
,2008, 'Podophyllin reaction mimicking Bowen`s disease in a patient with delusions of verrucosis', Clinical and Experimental Dermatology, 33, pp. 443 - 445, http://dx.doi.org/10.1111/j.1365-2230.2007.02668.x
,2008, 'Quality of life evaluation in epidermolysis bullosa', Journal of the American Academy of Dermatology, 58, pp. AB81 - AB81
,2008, 'Quality of life evaluation in epidermolysis bullosa: Development of the QOLEB questionnaire', Journal of Investigative Dermatology, 128, pp. 1607 - 1607
,2008, 'Reticular variant of mid-dermal elastolysis', American Journal of Dermatopathology, 30, pp. 287 - 290
,2008, 'The classification of inherited epidermolysis bullosa (EB): REPORT OF THE THIRD INTERNATIONAL CONSENUS MEETING ON DIAGNOSIS AND CLASSIFICATION OF EB', Journal of the American Academy of Dermatology, 58, pp. 931 - 950
,2008, 'Treatment of pemphigus - The need for more evidence', Archives of Dermatology, 144, pp. 100 - 101
,2007, 'Erratum: Genetic analysis of a family with hereditary glomuvenous malformations (Australasian Journal of Dermatology (2007) 48, (170-173))', Australasian Journal of Dermatology, 48, pp. 261, http://dx.doi.org/10.1111/j.1440-0960.2007.00407.x
,2007, 'A randomized controlled trial of pimecrolimus cream 1% in adolescents and adults with head and neck atopic dermatitis and intolerant of, or dependent on, topical corticosteroids', British Journal of Dermatology, 157, pp. 954 - 959
,2007, 'Cutaneous Mycobacterium neoaurum infection causing scarring alopecia in an immunocompetent host', British Journal of Dermatology, 157, pp. 204 - 206
,2007, 'Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia', Australasian Journal of Dermatology, 48, pp. 40 - 42
,2007, 'Genetic analysis of a family with hereditary glomuvenous malformations', Australasian Journal of Dermatology, 48, pp. 170 - 173
,2007, 'Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome', Clinical and Experimental Ophthalmology, 35, pp. 163 - 166
,2007, 'Heterozygous carriers of an intragenic deletion in the gene encoding collagen XVII, COL17A1: 823delA, exhibit dental abnormalities in a family with nonherlitz junctional epidermolysis', Journal of Investigative Dermatology, 127, pp. 2681 - 2681
,2007, 'Novel and recurrent mutations in KRT5 and KRT14 in epidermolysis bullosa simplex in Australasia', Journal of Investigative Dermatology, 127, pp. S86 - S86
,2007, 'Novel mutations in the ITGB4 gene associated with a mild phenotype in junctional epidermolysis bullosa with pyloric atresia: two siblings with differential expression of pyloric atresia', Journal of Investigative Dermatology, 127, pp. 2686 - 2686
,2007, 'Novel N-terminal mutation in LAMA3A isoform causing late onset Herlitz junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome', Journal of Investigative Dermatology, 127, pp. S89 - S89
,2007, 'Randomised controlled trial of minigrafting versus recell in stable vitiligo', Journal of Investigative Dermatology, 127, pp. 2685 - 2685
,2007, 'Recessive epidermolysis bullosa simplex due to a homozygous truncation mutation KRT14 Y204X with basal K6/16 expression and an ameliorating phenotype', Journal of Investigative Dermatology, 127, pp. 2690 - 2690
,2007, 'Retrospective diagnosis of fatal BP180-deficient non-herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects', Journal of Investigative Dermatology, 127, pp. 1772 - 1775
,2007, 'Retrospective diagnosis of lethal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by IF antigen mapping of parental carriers bearing enamel defects', Journal of Investigative Dermatology, 127, pp. 1772 - 1775
,2007, 'Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants', Journal of Dermatological Science, 46, pp. 169 - 178
,2006, 'A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa', American Journal of Dermatopathology, 28, pp. 387 - 394
,2006, 'A complicated blistering disease case demonstrating the usefulness of immunoblotting and ELISA for the diagnosis of immunobullous diseases', Australasian Journal of Dermatology, 47, http://dx.doi.org/10.1111/j.1440-0960.2006.00311_3.x
,2006, 'Homozygosity for an intragenic deletion in the gene encoding collagen XVII, COL17A1: 823delA results in lethality in a family with non-herlitz junctional epidermolysis bullosa', Journal of Investigative Dermatology, 126, pp. 38 - 38
,2006, 'Interventions for pemphigus vulgaris and pemphigus foliaceus', Cochrane Database of Systematic Reviews, pp. 1 - 16
,2006, 'Probiotics for atopic eczema', Cochrane Database of Systematic Reviews, pp. 1 - 10
,2006, 'Tacrolimus ointment does not affect the immediate response to vaccination, the generation of immune memory, or humoral and cell-mediated immunity in children', Archives of Disease in Childhood, 91, pp. 905 - 910
,2006, 'Urethral meatal stenosis in junctional epidermolysis bullosa: a rare complication effectively treated with a novel and simple modality', International Journal of Dermatology, online
,2006, 'Urethral meatal stenosis in junctional epidermoylsis bullosa: A rare complication effectively treated with a novel and simple modality', International Journal of Dermatology, 46, pp. 1076 - 1077
,2005, 'Interventions for bullous pemphigoid.', Cochrane database of systematic reviews (Online)
,2005, 'A case of desquamating rash associated with methadone use', Medical Journal of Australia, 182, pp. 76 - 77
,2005, 'A Novel Deletion Mutation in Keratin 5 Causing the Removal of 5 Amino Acids and Elevated Mutant mRNA Levels in Dowling-Meara Epidermolysis Bullosa Simplex', Journal of Investigative Dermatology, 124, pp. 1083 - 1085
,2005, 'An unusual case of clubbing', Medical Observer, April 2005, pp. 32 - 32
,2005, 'Consensus statement on the safety profile of topical calcineurin inhibitors', Dermatology, 211, pp. 77 - 78
,2005, 'Consensus Statement on the Satety Profile of Topical Calcineurin Inhibitors', Dermatology, 211, pp. 77 - 78
,2005, 'Discoid lupus erythematosus', Medical Observer, April 2005, pp. 29 - 29
,2005, 'Elevated mutant keratin 5 mRNA expression in a novel deletion mutation in Dowling-Meara epidermolysis bullosa simplex', Journal of Investigative Dermatology, 125, pp. A9 - A9
,2005, 'Gorlin`s Syndrome', Medical Observer, June 2005, pp. 30 - 30
,2005, 'Heterozygote for Fabry`s disease presents with hand ischaemia and painful acroparathaesia', Australasian Journal of Dermatology, 46, pp. A18 - A19
,2005, 'Interventions for bullous pemphigoid (Review)', The Cochrane Library, 3, pp. 1 - 26
,2005, 'Late-onset Herlitz JEB mimicking laryngo-oculo-cutaneous syndrome', Journal of Investigative Dermatology, 125, pp. A10 - A10
,2005, 'Lepromatous Leprosy', Medical Observer, May 2005, pp. 34 - 34
,2005, 'Li-Fraumeni Syndrome', Medical Observer, 22 July, pp. 34 - 34
,2005, 'Lichen amyloidosis', Medical Observer, March 2005, pp. 36 - 36
,2005, 'Looking beyond skin-deep', Medical Observer, Jan 2005, pp. 28 - 28
,2005, 'Multiple pigmented nodules', Archives of Dermatology, 141, pp. 390 - 391
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