-
1
-
-
0030051855
-
Leukemia and lymphoma in ataxia telangiectasia
-
Taylor AM, Metcalfe JA, Thick J, et al. Leukemia and lymphoma in ataxia telangiectasia. Blood. 1996;87:423-438. (Pubitemid 26030297)
-
(1996)
Blood
, vol.87
, Issue.2
, pp. 423-438
-
-
Taylor, A.M.R.1
Metcalfe, J.A.2
Thick, J.3
Mak, Y.-F.4
-
2
-
-
34547637645
-
Ataxia-telangiectasia: Mild neurological presentation despite null ATM mutation and severe cellular phenotype
-
DOI 10.1002/ajmg.a.31853
-
Alterman N, Fattal-Valevski A, Moyal L, et al. Ataxia-telangiectasia: mild neurological presentation despite null ATMmutation and severe cellular phenotype. Am JMed Genet A. 2007;143A:1827-1834. (Pubitemid 47206057)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.16
, pp. 1827-1834
-
-
Alterman, N.1
Fattal-Valevski, A.2
Moyal, L.3
Crawford, T.O.4
Lederman, H.M.5
Ziv, Y.6
Shiloh, Y.7
-
3
-
-
17344370225
-
Genotype-phenotype relationships in ataxia-telangiectasia and variants
-
DOI 10.1086/301755
-
Gilad S, Chessa L, Khosravi R, et al. Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet. 1998;62: 551-561. (Pubitemid 28164612)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.3
, pp. 551-561
-
-
Gilad, S.1
Chessa, L.2
Khosravi, R.3
Russell, P.4
Galanty, Y.5
Piane, M.6
Gatti, R.A.7
Jorgensen, T.J.8
Shiloh, Y.9
Bar-Shira, A.10
-
4
-
-
26244435498
-
Molecular pathology of ataxia telangiectasia
-
DOI 10.1136/jcp.2005.026062
-
Taylor AM, Byrd PJ.Molecular pathology of ataxia telangiectasia. J Clin Pathol. 2005;58:1009-1015. (Pubitemid 41416047)
-
(2005)
Journal of Clinical Pathology
, vol.58
, Issue.10
, pp. 1009-1015
-
-
Taylor, A.M.R.1
Byrd, P.J.2
-
5
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999;99:577-587. (Pubitemid 30004634)
-
(1999)
Cell
, vol.99
, Issue.6
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovic, T.3
Bressan, D.A.4
Kaplan, M.I.5
Jaspers, N.G.J.6
Raams, A.7
Byrd, P.J.8
Petrini, J.H.J.9
Taylor, A.M.R.10
-
6
-
-
3242889151
-
Ataxia-telangiectasia-like disorder (ATLD) - Its clinical presentation and molecular basis
-
DOI 10.1016/j.dnarep.2004.04.009, PII S1568786404001405
-
TaylorAM,GroomA,Byrd PJ.Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst). 2004;3:1219-1225. (Pubitemid 38997965)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 1219-1225
-
-
Taylor, A.M.R.1
Groom, A.2
Byrd, P.J.3
-
7
-
-
12744273401
-
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
-
Fernet M, Gribaa M, Salih MA, et al. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet. 2005;14:307-318.
-
(2005)
Hum Mol Genet.
, vol.14
, pp. 307-318
-
-
Fernet, M.1
Gribaa, M.2
Salih, M.A.3
-
8
-
-
0026528685
-
Cancer susceptibility in ataxia-telangiectasia
-
Peterson RD, Funkhouser JD, Tuck-Muller CM, et al. Cancer susceptibility in ataxia-telangiectasia. Leukemia. 1992;6 (Suppl 1): 8-13.
-
(1992)
Leukemia
, vol.6
, Issue.SUPPL. 1
, pp. 8-13
-
-
Peterson, R.D.1
Funkhouser, J.D.2
Tuck-Muller, C.M.3
-
9
-
-
17344362697
-
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: Expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer
-
DOI 10.1086/301706
-
Stankovic T, Kidd AM, Sutcliffe A, et al. ATMmutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet. 1998;62:334-345. (Pubitemid 28110776)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.2
, pp. 334-345
-
-
Stankovic, T.1
Kidd, A.M.J.2
Sutcliffe, A.3
McGuire, G.M.4
Robinson, P.5
Weber, P.6
Bedenham, T.7
Bradwell, A.R.8
Easton, D.F.9
Lennox, G.G.10
Haites, N.11
Byrd, P.J.12
Taylor, A.M.R.13
-
11
-
-
68349122462
-
Ataxia-telangiectasia: Atypical presentation and toxicity of cancer treatment
-
Yanofsky RA, Seshia SS, Dawson AJ, et al. Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment. Can J Neurol Sci. 2009;36:462-467.
-
(2009)
Can J Neurol Sci.
, vol.36
, pp. 462-467
-
-
Yanofsky, R.A.1
Seshia, S.S.2
Dawson, A.J.3
-
12
-
-
3543084768
-
Differences between laboratory strains of Epstein-Barr virus based on immortalization, abortive infection, and interference
-
Miller G, Robinson J, Heston L, et al. Differences between laboratory strains of Epstein-Barr virus based on immortalization, abortive infection, and interference. Proc Natl Acad Sci USA. 1974;71:4006-4010.
-
(1974)
Proc Natl Acad Sci USA.
, vol.71
, pp. 4006-4010
-
-
Miller, G.1
Robinson, J.2
Heston, L.3
-
13
-
-
0032952338
-
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
-
DOI 10.1093/hmg/8.1.69
-
Sandoval N, Platzer M, Rosenthal A, et al. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. HumMol Genet. 1999;8:69-79. (Pubitemid 29039050)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.1
, pp. 69-79
-
-
Sandoval, N.1
Platzer, M.2
Rosenthal, A.3
Dork, T.4
Bendix, R.5
Skawran, B.6
Stuhrmann, M.7
Wegner, R.-D.8
Sperling, K.9
Banin, S.10
Shiloh, Y.11
Baumer, A.12
Bernthaler, U.13
Sennefelder, H.14
Brohm, M.15
Weber, B.H.F.16
Schindler, D.17
-
14
-
-
0033909670
-
Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
-
DOI 10.1006/mgme.2000.2998
-
Becker-Catania SG, Chen G, Hwang MJ, et al. Ataxia-telangiectasia: phenotype/genotype studies of ATMprotein expression,mutations, and radiosensitivity. Mol Genet Metab. 2000;70:122-133. (Pubitemid 30460455)
-
(2000)
Molecular Genetics and Metabolism
, vol.70
, Issue.2
, pp. 122-133
-
-
Becker-Catania, S.G.1
Chen, G.2
Hwang, M.J.3
Wang, Z.4
Sun, X.5
Sanal, O.6
Bernatowska-Matuszkiewicz, E.7
Chessa, L.8
Lee, E.Y.-H.P.9
Gatti, R.A.10
-
15
-
-
1842614985
-
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations
-
Dork T, Bendix-Waltes R, Wegner RD, et al. Slow progression of ataxia-telangiectasia with double missense and in frame splicemutations. Am JMed Genet A. 2004;126A:272-277. (Pubitemid 38420639)
-
(2004)
American Journal of Medical Genetics
, vol.126 A
, Issue.3
, pp. 272-277
-
-
Dork, T.1
Bendix-Waltes, R.2
Wegner, R.-D.3
Stumm, M.4
-
16
-
-
79952198207
-
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant formof ataxia-telangiectasia
-
Silvestri G, Masciullo M, Piane M, et al. Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant formof ataxia-telangiectasia. J Neurol. 2010;257:1738-1740.
-
(2010)
J Neurol.
, vol.257
, pp. 1738-1740
-
-
Silvestri, G.1
Masciullo, M.2
Piane, M.3
-
17
-
-
0035839431
-
Residual ataxia telangiectasiamutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T->Gmutations, showing a less severe phenotype
-
Stewart GS, Last JI, Stankovic T, et al. Residual ataxia telangiectasiamutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T->Gmutations, showing a less severe phenotype. J Biol Chem. 2001;276:30133-30141.
-
(2001)
J Biol Chem.
, vol.276
, pp. 30133-30141
-
-
Stewart, G.S.1
Last, J.I.2
Stankovic, T.3
-
18
-
-
2542554327
-
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity
-
DOI 10.1002/ana.20139
-
Sutton IJ, Last JI, Ritchie SJ, et al. Adult-onset ataxia telangiectasia due to ATM 5762ins137mutation homozygosity. Ann Neurol. 2004;55:891-895. (Pubitemid 38702588)
-
(2004)
Annals of Neurology
, vol.55
, Issue.6
, pp. 891-895
-
-
Sutton, I.J.1
Last, J.I.K.2
Ritchie, S.J.3
Harrington, H.J.4
Byrd, P.J.5
Taylor, A.M.R.6
-
19
-
-
80051793958
-
Neurologic presentation in children with ataxiatelangiectasia: Is small head circumference a hallmark of the disease?
-
Nissenkorn A, Levi YB, Vilozni D, et al. Neurologic presentation in children with ataxiatelangiectasia: is small head circumference a hallmark of the disease? J Pediatr. 2011;159:466-471.
-
(2011)
J Pediatr.
, vol.159
, pp. 466-471
-
-
Nissenkorn, A.1
Levi, Y.B.2
Vilozni, D.3
-
20
-
-
80051590706
-
Pediatric leukemia predisposition syndromes: Clues to understanding leukemogenesis
-
Seif AE. Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genet. 2004: 227-244.
-
(2004)
Cancer Genet.
, pp. 227-244
-
-
Seif, A.E.1
|