Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

695 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Cabral RM, et al. Among authors: mcgrath ja. J Invest Dermatol. 2010 Jun;130(6):1543-50. doi: 10.1038/jid.2010.7. Epub 2010 Feb 4. J Invest Dermatol. 2010. PMID: 20130592 Free article.
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA. Groves RW, et al. Among authors: mcgrath ja. J Invest Dermatol. 2010 Jun;130(6):1551-7. doi: 10.1038/jid.2010.19. Epub 2010 Feb 18. J Invest Dermatol. 2010. PMID: 20164846 Free article.
Strategies to identify disease genes.
Ashton GH, McGrath JA, South AP. Ashton GH, et al. Among authors: mcgrath ja. Drugs Today (Barc). 2002 Apr;38(4):235-44. doi: 10.1358/dot.2002.38.4.820090. Drugs Today (Barc). 2002. PMID: 12532192 Review.
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Hamada T, et al. Among authors: mcgrath ja. J Invest Dermatol. 2003 Mar;120(3):345-50. doi: 10.1046/j.1523-1747.2003.12073.x. J Invest Dermatol. 2003. PMID: 12603844 Free article.
Desmosomes exhibit site-specific features in human palm skin.
Wan H, Dopping-Hepenstal PJ, Gratian MJ, Stone MG, McGrath JA, Eady RA. Wan H, et al. Among authors: mcgrath ja. Exp Dermatol. 2003 Aug;12(4):378-88. doi: 10.1034/j.1600-0625.2002.120404.x. Exp Dermatol. 2003. PMID: 12930293
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Pourreyron C, et al. Among authors: mcgrath ja. J Invest Dermatol. 2007 Oct;127(10):2438-44. doi: 10.1038/sj.jid.5700878. Epub 2007 May 10. J Invest Dermatol. 2007. PMID: 17495952 Free article.
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, Pacy J, Elia G, Jeffery R, Leigh IM, Navsaria H, McGrath JA. Wong T, et al. Among authors: mcgrath ja. J Invest Dermatol. 2008 Sep;128(9):2179-89. doi: 10.1038/jid.2008.78. Epub 2008 Apr 3. J Invest Dermatol. 2008. PMID: 18385758 Free article. Clinical Trial.
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L. Has C, et al. Among authors: mcgrath ja. J Invest Dermatol. 2014 Mar;134(3):845-849. doi: 10.1038/jid.2013.367. Epub 2013 Sep 4. J Invest Dermatol. 2014. PMID: 24005051 Free article. No abstract available.
695 results