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1,002 results

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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA. Ogi T, et al. Among authors: taylor am. PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8. PLoS Genet. 2012. PMID: 23144622 Free PMC article.
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: taylor aj, taylor am. 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.
Microarray analysis reveals that TP53- and ATM-mutant B-CLLs share a defect in activating proapoptotic responses after DNA damage but are distinguished by major differences in activating prosurvival responses.
Stankovic T, Hubank M, Cronin D, Stewart GS, Fletcher D, Bignell CR, Alvi AJ, Austen B, Weston VJ, Fegan C, Byrd PJ, Moss PA, Taylor AM. Stankovic T, et al. Among authors: taylor am. Blood. 2004 Jan 1;103(1):291-300. doi: 10.1182/blood-2003-04-1161. Epub 2003 Sep 4. Blood. 2004. PMID: 12958068 Free article.
A role for E1B-AP5 in ATR signaling pathways during adenovirus infection.
Blackford AN, Bruton RK, Dirlik O, Stewart GS, Taylor AM, Dobner T, Grand RJ, Turnell AS. Blackford AN, et al. Among authors: taylor am. J Virol. 2008 Aug;82(15):7640-52. doi: 10.1128/JVI.00170-08. Epub 2008 May 14. J Virol. 2008. PMID: 18480432 Free PMC article.
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. Among authors: taylor am. 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 Free article.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: taylor am. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
1,002 results