Sparrow DB - Search Results

1

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: sparrow db. 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.

2

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. 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.

3

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. 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

4

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. 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.

5

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: sparrow db. 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

6

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. 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

7

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: sparrow db. 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

8

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: sparrow db. 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

9

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. 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

10

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL. McInerney-Leo AM, et al. Among authors: sparrow db. Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24. Hum Mol Genet. 2015. PMID: 25343988

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