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Connexin 26 expression and mutation analysis in epidermal disease.
Di WL, Common JE, Kelsell DP. Di WL, et al. Among authors: kelsell dp. Cell Commun Adhes. 2001;8(4-6):415-8. doi: 10.3109/15419060109080763. Cell Commun Adhes. 2001. PMID: 12064628
A case of erythrokeratoderma variabilis without mutations in connexin 31.
Ishida-Yamamoto A, Kelsell D, Common J, Houseman MJ, Hashimoto M, Shibaki H, Asano K, Takahashi H, Hashimoto Y, Senshu T, Leigh IM, Iizuka H. Ishida-Yamamoto A, et al. Among authors: kelsell d. Br J Dermatol. 2000 Dec;143(6):1283-7. doi: 10.1046/j.1365-2133.2000.03902.x. Br J Dermatol. 2000. PMID: 11122035
The palmoplantar keratodermas: much more than palms and soles.
Kelsell DP, Stevens HP. Kelsell DP, et al. Mol Med Today. 1999 Mar;5(3):107-13. doi: 10.1016/s1357-4310(98)01428-2. Mol Med Today. 1999. PMID: 10203734 Review.
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al. Shamsher MK, et al. Among authors: kelsell dp. Hum Mol Genet. 1995 Oct;4(10):1875-81. doi: 10.1093/hmg/4.10.1875. Hum Mol Genet. 1995. PMID: 8595410
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Norgett EE, et al. Among authors: kelsell dp. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761. Hum Mol Genet. 2000. PMID: 11063735
Connexin mutations in skin disease and hearing loss.
Kelsell DP, Di WL, Houseman MJ. Kelsell DP, et al. Am J Hum Genet. 2001 Mar;68(3):559-68. doi: 10.1086/318803. Epub 2001 Jan 25. Am J Hum Genet. 2001. PMID: 11179004 Free PMC article. Review. No abstract available.
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G. Lench NJ, et al. Among authors: kelsell dp. J Med Genet. 1998 Feb;35(2):151-2. doi: 10.1136/jmg.35.2.151. J Med Genet. 1998. PMID: 9507396 Free PMC article.
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Kelsell DP, et al. Eur J Hum Genet. 2000 Jun;8(6):469-72. doi: 10.1038/sj.ejhg.5200510. Eur J Hum Genet. 2000. PMID: 10888284
Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
Boente Mdel C, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP. Boente Mdel C, et al. Among authors: kelsell dp. Br J Dermatol. 2016 Sep;175(3):644-6. doi: 10.1111/bjd.14617. Epub 2016 Jul 25. Br J Dermatol. 2016. PMID: 27037756 No abstract available.
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A. Mazereeuw-Hautier J, et al. Among authors: kelsell dp. Br J Dermatol. 2007 May;156(5):1015-9. doi: 10.1111/j.1365-2133.2007.07806.x. Epub 2007 Mar 23. Br J Dermatol. 2007. PMID: 17381453 Review.
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