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HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. Webb BD, et al. Among authors: oystreck dt. Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770981 Free PMC article.
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. Chew S, et al. Among authors: oystreck dt. Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31. Brain. 2013. PMID: 23378218 Free PMC article.
The clinical spectrum of homozygous HOXA1 mutations.
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. Bosley TM, et al. Among authors: oystreck dt. Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262. Am J Med Genet A. 2008. PMID: 18412118 Free PMC article.
Synergistic divergence: a distinct ocular motility dysinnervation pattern.
Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM. Oystreck DT, et al. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5213-6. doi: 10.1167/iovs.08-2928. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578026 Free PMC article.
Clinical characterization of the HOXA1 syndrome BSAS variant.
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Bosley TM, et al. Among authors: oystreck dt. Neurology. 2007 Sep 18;69(12):1245-53. doi: 10.1212/01.wnl.0000276947.59704.cf. Neurology. 2007. PMID: 17875913 Free PMC article.
47 results