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185 results

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Page 1
Connexin mutations in human disease.
Kelsell DP. Kelsell DP. Exp Dermatol. 2004 Oct;13(10):661-2. doi: 10.1111/j.0906-6705.2004.0250f.x. Exp Dermatol. 2004. PMID: 15447731 No abstract available.
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP. Blaydon DC, et al. Among authors: kelsell dp. Am J Hum Genet. 2011 Oct 7;89(4):564-71. doi: 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944047 Free PMC article.
Cell-cell connectivity: desmosomes and disease.
Brooke MA, Nitoiu D, Kelsell DP. Brooke MA, et al. Among authors: kelsell dp. J Pathol. 2012 Jan;226(2):158-71. doi: 10.1002/path.3027. Epub 2011 Nov 14. J Pathol. 2012. PMID: 21989576 Review.
Inflammatory skin and bowel disease linked to ADAM17 deletion.
Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP. Blaydon DC, et al. Among authors: kelsell dp. N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721. N Engl J Med. 2011. PMID: 22010916 Free article.
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP. Blaydon DC, et al. Among authors: kelsell dp. Am J Hum Genet. 2012 Feb 10;90(2):340-6. doi: 10.1016/j.ajhg.2011.12.008. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265016 Free PMC article.
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.
Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA, Kelsell DP. Scott CA, et al. Among authors: kelsell dp. J Invest Dermatol. 2013 Feb;133(2):573-6. doi: 10.1038/jid.2012.332. Epub 2012 Sep 20. J Invest Dermatol. 2013. PMID: 22992804 Free article. No abstract available.
185 results