Hennies HC - Search Results

1

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia.

Stevens HP, Choon SE, Hennies HC, Kelsell DP. Stevens HP, et al. Among authors: hennies hc. Br J Dermatol. 1999 May;140(5):963-4. doi: 10.1046/j.1365-2133.1999.02837.x. Br J Dermatol. 1999. PMID: 10354044 No abstract available.

2

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. Genomics. 1999 Jul 15;59(2):234-42. doi: 10.1006/geno.1999.5857. Genomics. 1999. PMID: 10409435

3

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. Among authors: hennies hc. Hum Mol Genet. 1996 Jun;5(6):857-60. doi: 10.1093/hmg/5.6.857. Hum Mol Genet. 1996. PMID: 8776604

4

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping.

Laass MW, Hennies HC, Preis S, Stevens HP, Jung M, Leigh IM, Wienker TF, Reis A. Laass MW, et al. Among authors: hennies hc. Hum Genet. 1997 Dec;101(3):376-82. doi: 10.1007/s004390050645. Hum Genet. 1997. PMID: 9439671

5

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.

Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Küster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS. Hunt DM, et al. Among authors: hennies hc. Eur J Hum Genet. 2001 Mar;9(3):197-203. doi: 10.1038/sj.ejhg.5200605. Eur J Hum Genet. 2001. PMID: 11313759

6

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: hennies hc. 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.

7

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC. Eckl KM, et al. Among authors: hennies hc. Hum Genet. 2003 Jan;112(1):50-6. doi: 10.1007/s00439-002-0838-8. Epub 2002 Oct 19. Hum Genet. 2003. PMID: 12483299

8

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: hennies hc. 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.

9

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins.

Kolde G, Hennies HC, Bethke G, Reichart PA. Kolde G, et al. Among authors: hennies hc. J Am Acad Dermatol. 2005 Mar;52(3 Pt 1):403-9. doi: 10.1016/j.jaad.2004.07.029. J Am Acad Dermatol. 2005. PMID: 15761417

10

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.

Gedicke MM, Traupe H, Fischer B, Tinschert S, Hennies HC. Gedicke MM, et al. Among authors: hennies hc. Br J Dermatol. 2006 Jan;154(1):167-71. doi: 10.1111/j.1365-2133.2005.06995.x. Br J Dermatol. 2006. PMID: 16403113 Review.

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