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Ataxia telangiectasia: more variation at clinical and cellular levels.
Taylor AM, Lam Z, Last JI, Byrd PJ. Taylor AM, et al. Among authors: byrd pj. Clin Genet. 2015 Mar;87(3):199-208. doi: 10.1111/cge.12453. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25040471 Review.
Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.
Thompson S, Iyer A, Byrd P, Taylor M, Spinty S. Thompson S, et al. Mov Disord Clin Pract. 2014 Jun 11;1(3):249-251. doi: 10.1002/mdc3.12048. eCollection 2014 Sep. Mov Disord Clin Pract. 2014. PMID: 30713859 Free PMC article. No abstract available.
Cancer risks and mortality in heterozygous ATM mutation carriers.
Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF. Thompson D, et al. J Natl Cancer Inst. 2005 Jun 1;97(11):813-22. doi: 10.1093/jnci/dji141. J Natl Cancer Inst. 2005. PMID: 15928302
Longitudinal analysis of the neurological features of ataxia-telangiectasia.
Jackson TJ, Chow G, Suri M, Byrd P, Taylor MR, Whitehouse WP. Jackson TJ, et al. Dev Med Child Neurol. 2016 Jul;58(7):690-7. doi: 10.1111/dmcn.13052. Epub 2016 Feb 19. Dev Med Child Neurol. 2016. PMID: 26896183
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D. Stewart GS, et al. Cell. 2009 Feb 6;136(3):420-34. doi: 10.1016/j.cell.2008.12.042. Cell. 2009. PMID: 19203578
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
Austen B, Barone G, Reiman A, Byrd PJ, Baker C, Starczynski J, Nobbs MC, Murphy RP, Enright H, Chaila E, Quinn J, Stankovic T, Pratt G, Taylor AM. Austen B, et al. Br J Haematol. 2008 Sep;142(6):925-33. doi: 10.1111/j.1365-2141.2008.07281.x. Epub 2008 Jun 28. Br J Haematol. 2008. PMID: 18573109
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.
Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM. Stewart GS, et al. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):16910-5. doi: 10.1073/pnas.0708408104. Epub 2007 Oct 16. Proc Natl Acad Sci U S A. 2007. PMID: 17940005 Free PMC article.
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.
Sutton IJ, Last JI, Ritchie SJ, Harrington HJ, Byrd PJ, Taylor AM. Sutton IJ, et al. Ann Neurol. 2004 Jun;55(6):891-5. doi: 10.1002/ana.20139. Ann Neurol. 2004. PMID: 15174027
Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage.
Stankovic T, Stewart GS, Fegan C, Biggs P, Last J, Byrd PJ, Keenan RD, Moss PA, Taylor AM. Stankovic T, et al. Blood. 2002 Jan 1;99(1):300-9. doi: 10.1182/blood.v99.1.300. Blood. 2002. PMID: 11756185
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