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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: last ji. Clin Genet. 2015 Mar;87(3):199-208. doi: 10.1111/cge.12453. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25040471 Review.
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.
Byrd PJ, Stewart GS, Smith A, Eaton C, Taylor AJ, Guy C, Eringyte I, Fooks P, Last JI, Horsley R, Oliver AW, Janic D, Dokmanovic L, Stankovic T, Taylor AM. Byrd PJ, et al. Among authors: last ji. PLoS Genet. 2016 Mar 18;12(3):e1005945. doi: 10.1371/journal.pgen.1005945. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 26990772 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
Bmi-1 is induced by the Epstein-Barr virus oncogene LMP1 and regulates the expression of viral target genes in Hodgkin lymphoma cells.
Dutton A, Woodman CB, Chukwuma MB, Last JI, Wei W, Vockerodt M, Baumforth KR, Flavell JR, Rowe M, Taylor AM, Young LS, Murray PG. Dutton A, et al. Blood. 2007 Mar 15;109(6):2597-603. doi: 10.1182/blood-2006-05-020545. Epub 2006 Dec 5. Blood. 2007. PMID: 17148591
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
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
Exley AR, Buckenham S, Hodges E, Hallam R, Byrd P, Last J, Trinder C, Harris S, Screaton N, Williams AP, Taylor AM, Shneerson JM. Exley AR, et al. Clin Immunol. 2011 Jul;140(1):26-36. doi: 10.1016/j.clim.2011.03.007. Epub 2011 Mar 13. Clin Immunol. 2011. PMID: 21459046
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
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
Claes K, Depuydt J, Taylor AM, Last JI, Baert A, Schietecatte P, Vandersickel V, Poppe B, De Leeneer K, D'Hooghe M, Vral A. Claes K, et al. Among authors: last ji. Neuromolecular Med. 2013 Sep;15(3):447-57. doi: 10.1007/s12017-013-8231-4. Epub 2013 Apr 30. Neuromolecular Med. 2013. PMID: 23632773
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Among authors: last ji. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Worth PF, Srinivasan V, Smith A, Last JI, Wootton LL, Biggs PM, Davies NP, Carney EF, Byrd PJ, Taylor AM. Worth PF, et al. Among authors: last ji. Mov Disord. 2013 Apr;28(4):524-8. doi: 10.1002/mds.25236. Epub 2012 Nov 9. Mov Disord. 2013. PMID: 23143971
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