O'Toole EA - Search Results

1

Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.

Zamiri M, Wilson NJ, O'Toole EA, Smith FJD. Zamiri M, et al. Br J Dermatol. 2019 Sep;181(3):618-620. doi: 10.1111/bjd.17839. Epub 2019 Jun 2. Br J Dermatol. 2019. PMID: 30822367 No abstract available.

2

Clinical and pathological features of pachyonychia congenita.

Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Leachman SA, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250204 Free article. Review.

3

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Br J Dermatol. 2008 Mar;158(3):611-3. doi: 10.1111/j.1365-2133.2007.08277.x. Epub 2007 Nov 6. Br J Dermatol. 2008. PMID: 17986308 No abstract available.

4

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP, Hitman GA, Booy R, Mein CA, Kelsell DP. Sinclair C, et al. Br J Dermatol. 2009 May;160(5):1113-5. doi: 10.1111/j.1365-2133.2009.09050.x. Epub 2009 Mar 9. Br J Dermatol. 2009. PMID: 19239468 No abstract available.

5

Keratin K6c mutations cause focal palmoplantar keratoderma.

Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Wilson NJ, et al. J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16. J Invest Dermatol. 2010. PMID: 19609311 Free article.

6

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.

Scott CA, O'Toole EA, Mohungoo MJ, Messenger A, Kelsell DP. Scott CA, et al. Clin Exp Dermatol. 2011 Jan;36(1):88-90. doi: 10.1111/j.1365-2230.2010.03945.x. Clin Exp Dermatol. 2011. PMID: 21188847

7

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. Blaydon DC, et al. Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830519 Free PMC article.

8

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ. Wilson NJ, et al. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6. Br J Dermatol. 2014. PMID: 24611874 Free PMC article.

9

Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting.

O'Toole EA, Kaspar RL, Sprecher E, Schwartz ME, Rittié L. O'Toole EA, et al. Br J Dermatol. 2014 Nov;171(5):974-7. doi: 10.1111/bjd.13341. Epub 2014 Oct 15. Br J Dermatol. 2014. PMID: 25124823 Free article.

10

Keratins and skin disease.

Knöbel M, O'Toole EA, Smith FJ. Knöbel M, et al. Cell Tissue Res. 2015 Jun;360(3):583-9. doi: 10.1007/s00441-014-2105-4. Epub 2015 Jan 27. Cell Tissue Res. 2015. PMID: 25620412 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

155 results

Search Page