Whittock N - Search Results

1

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Turnpenny PD, et al. Among authors: whittock n. J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. J Med Genet. 2003. PMID: 12746394 Free PMC article.

2

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.

Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD. Whittock NV, et al. Clin Genet. 2004 Jul;66(1):67-72. doi: 10.1111/j.0009-9163.2004.00272.x. Clin Genet. 2004. PMID: 15200511

3

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. Sparrow DB, et al. Among authors: whittock nv. Am J Hum Genet. 2006 Jan;78(1):28-37. doi: 10.1086/498879. Epub 2005 Nov 16. Am J Hum Genet. 2006. PMID: 16385447 Free PMC article.

4

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Whittock NV, Turnpenny PD, Tuerlings J, Ellard S. Whittock NV, et al. Prenat Diagn. 2003 Jul;23(7):575-9. doi: 10.1002/pd.643. Prenat Diagn. 2003. PMID: 12868087

5

Mutated MESP2 causes spondylocostal dysostosis in humans.

Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD. Whittock NV, et al. Am J Hum Genet. 2004 Jun;74(6):1249-54. doi: 10.1086/421053. Epub 2004 Apr 30. Am J Hum Genet. 2004. PMID: 15122512 Free PMC article.

6

A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.

Whittock NV, Sher C, Gold I, Libman V, Reish O. Whittock NV, et al. Genet Med. 2003 Nov-Dec;5(6):435-9. doi: 10.1097/01.gim.0000096494.61125.d8. Genet Med. 2003. PMID: 14614394

7

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).

Whittock NV, Izatt L, Mann A, Homfray T, Bennett C, Mansour S, Hurst J, Fryer A, Saggar AK, Barwell JG, Ellard S, Clayton PT. Whittock NV, et al. J Invest Dermatol. 2003 Oct;121(4):939-42. doi: 10.1046/j.1523-1747.2003.12489.x. J Invest Dermatol. 2003. PMID: 14632217 Free article. No abstract available.

8

Targetting of desmoglein 1 in inherited and acquired skin diseases.

Whittock NV, Bower C. Whittock NV, et al. Clin Exp Dermatol. 2003 Jul;28(4):410-5. doi: 10.1046/j.1365-2230.2003.01311.x. Clin Exp Dermatol. 2003. PMID: 12823304 Review.

9

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA. McLean WH, et al. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915477

10

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: whittock nv. Eur J Hum Genet. 2001 Mar;9(3):197-203. doi: 10.1038/sj.ejhg.5200605. Eur J Hum Genet. 2001. PMID: 11313759

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