Murrell D - Search Results

1

Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.

Klingberg S, Mortimore R, Parkes J, Chick JE, Clague AE, Murrell D, Weedon D, Glass IA. Klingberg S, et al. Among authors: murrell d. Prenat Diagn. 2000 Aug;20(8):618-22. doi: 10.1002/1097-0223(200008)20:8<618::aid-pd864>3.0.co;2-8. Prenat Diagn. 2000. PMID: 10951471

2

Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.

Cummins RE, Klingberg S, Wesley J, Rogers M, Zhao Y, Murrell DF. Cummins RE, et al. Among authors: murrell df. J Invest Dermatol. 2001 Nov;117(5):1103-7. doi: 10.1046/j.0022-202x.2001.01508.x. J Invest Dermatol. 2001. PMID: 11710919 Free article.

3

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Premaratne C, Klingberg S, Glass I, Wright K, Murrell D. Premaratne C, et al. Among authors: murrell d. Australas J Dermatol. 2002 Feb;43(1):28-34. doi: 10.1046/j.1440-0960.2002.00548.x. Australas J Dermatol. 2002. PMID: 11869205

4

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.

Kemp MW, Klingberg S, Lloyd L, Molloy TJ, Marr P, Wang Y, Murrell GA, Murrell DF. Kemp MW, et al. Among authors: murrell df, murrell ga. J Invest Dermatol. 2005 May;124(5):1083-5. doi: 10.1111/j.0022-202X.2005.23739.x. J Invest Dermatol. 2005. PMID: 15854057 Free article. No abstract available.

5

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.

Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Murrell DF, et al. J Invest Dermatol. 2007 Jul;127(7):1772-5. doi: 10.1038/sj.jid.5700766. Epub 2007 Mar 8. J Invest Dermatol. 2007. PMID: 17344927 Free article. No abstract available.

6

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF. Dang N, et al. J Dermatol Sci. 2007 Jun;46(3):169-78. doi: 10.1016/j.jdermsci.2007.02.006. Epub 2007 Apr 10. J Dermatol Sci. 2007. PMID: 17425959 Review.

7

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N, Murrell DF. Dang N, et al. Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x. Exp Dermatol. 2008. PMID: 18558993 Review.

8

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E, Trisnowati N, Su J, Dang N, Klingberg S, Marr P, Melbourne W, Tran K, Chow CW, Orchard D, Varigos G, Murrell DF. Yiasemides E, et al. Among authors: murrell df. Clin Exp Dermatol. 2008 Nov;33(6):689-97. doi: 10.1111/j.1365-2230.2008.02858.x. Epub 2008 Aug 16. Clin Exp Dermatol. 2008. PMID: 18713255 Review.

9

Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.

Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF. Dang N, et al. Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484. Acta Derm Venereol. 2008. PMID: 18779879 Free article. Review.

10

How to take skin biopsies for epidermolysis bullosa.

Intong LR, Murrell DF. Intong LR, et al. Dermatol Clin. 2010 Apr;28(2):197-200, vii. doi: 10.1016/j.det.2009.12.002. Dermatol Clin. 2010. PMID: 20447481 Review.

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