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6 results
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Page 1
Primary microcephaly: do all roads lead to Rome?
Thornton GK, Woods CG. Thornton GK, et al. Trends Genet. 2009 Nov;25(11):501-10. doi: 10.1016/j.tig.2009.09.011. Epub 2009 Oct 21. Trends Genet. 2009. PMID: 19850369 Free PMC article. Review.
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.
Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG. Carvalho OP, et al. Among authors: thornton gk. J Med Genet. 2011 Feb;48(2):131-5. doi: 10.1136/jmg.2010.081455. Epub 2010 Oct 26. J Med Genet. 2011. PMID: 20978020 Free PMC article.
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas AK, Khurshid M, D├ęsir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. Nicholas AK, et al. Among authors: thornton g. Nat Genet. 2010 Nov;42(11):1010-4. doi: 10.1038/ng.682. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890279 Free PMC article.
Critical consequences of finding three pathogenic mutations in an individual with recessive disease.
Halsall S, Nicholas AK, Thornton G, Martin H, Geoffrey Woods C. Halsall S, et al. Among authors: thornton g. J Med Genet. 2010 Nov;47(11):769-70. doi: 10.1136/jmg.2010.079277. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679666
An SCN9A channelopathy causes congenital inability to experience pain.
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. Cox JJ, et al. Among authors: thornton g. Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413. Nature. 2006. PMID: 17167479 Free PMC article.
A novel pathway determining multidrug sensitivity in Schizosaccharomyces pombe.
Thornton G, Wilkinson CR, Toone WM, Jones N. Thornton G, et al. Genes Cells. 2005 Oct;10(10):941-51. doi: 10.1111/j.1365-2443.2005.00891.x. Genes Cells. 2005. PMID: 16164595
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