Dunwoodie SL - Search Results

1

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD. Gucev ZS, et al. Among authors: dunwoodie sl. Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471. Am J Med Genet A. 2010. PMID: 20503311

2

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. Among authors: dunwoodie sl. 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.

3

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, Turnpenny PD, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Am J Med Genet A. 2013 Sep;161A(9):2244-9. doi: 10.1002/ajmg.a.36073. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897666

4

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. 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.

5

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.

Coman D, Bacic S, Boys A, Sparrow DB, Dunwoodie SL, Savarirayan R, Amor DJ. Coman D, et al. Among authors: dunwoodie sl. Am J Med Genet A. 2008 Aug 1;146A(15):1972-6. doi: 10.1002/ajmg.a.32299. Am J Med Genet A. 2008. PMID: 18627039

6

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775957

7

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20. Eur J Hum Genet. 2010. PMID: 20087400 Free PMC article.

8

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335591

9

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: dunwoodie sl. 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.

10

Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.

Chapman G, Sparrow DB, Kremmer E, Dunwoodie SL. Chapman G, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2011 Mar 1;20(5):905-16. doi: 10.1093/hmg/ddq529. Epub 2010 Dec 7. Hum Mol Genet. 2011. PMID: 21147753

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