Kelsell DP - Search Results

1

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.

2

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.

Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM, Spurr NK. Kelsell DP, et al. Hum Mol Genet. 1995 Jun;4(6):1021-5. doi: 10.1093/hmg/4.6.1021. Hum Mol Genet. 1995. PMID: 7544664

3

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

4

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RP, Spurr NK, Leigh IM. Stevens HP, et al. Among authors: kelsell dp. J Invest Dermatol. 1996 Apr;106(4):795-7. doi: 10.1111/1523-1747.ep12346400. J Invest Dermatol. 1996. PMID: 8618025 Free article.

5

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.

Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB. Smith FJ, et al. Among authors: kelsell dp. Nat Genet. 1996 Aug;13(4):450-7. doi: 10.1038/ng0896-450. Nat Genet. 1996. PMID: 8696340

6

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).

Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK, Field JK. Kelsell DP, et al. Hum Mol Genet. 1996 Jun;5(6):857-60. doi: 10.1093/hmg/5.6.857. Hum Mol Genet. 1996. PMID: 8776604

7

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Kelsell DP, et al. Nature. 1997 May 1;387(6628):80-3. doi: 10.1038/387080a0. Nature. 1997. PMID: 9139825

8

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.

Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS. Rickman L, et al. Among authors: kelsell dp. Hum Mol Genet. 1999 Jun;8(6):971-6. doi: 10.1093/hmg/8.6.971. Hum Mol Genet. 1999. PMID: 10332028

9

Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.

Risk JM, Ruhrberg C, Hennies H, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM, Bishop DT, Spurr NK, Stevens HP, Leigh IM, Reis A, Kelsell DP, Field JK. Risk JM, et al. Among authors: kelsell dp. Genomics. 1999 Jul 15;59(2):234-42. doi: 10.1006/geno.1999.5857. Genomics. 1999. PMID: 10409435

10

Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.

Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MH, Leigh IM. Kelsell DP, et al. Exp Dermatol. 1999 Oct;8(5):388-91. doi: 10.1111/j.1600-0625.1999.tb00387.x. Exp Dermatol. 1999. PMID: 10536965

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

184 results

Search Page

Filters