-
1
-
-
3242876404
-
Ataxia-telangiectasia, an evolving phenotype
-
Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair 2004;3:1187-1196.
-
(2004)
DNA Repair
, vol.3
, pp. 1187-1196
-
-
Chun, H.H.1
Gatti, R.A.2
-
2
-
-
0037472924
-
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
-
Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 2003;412:499-506.
-
(2003)
Nature
, vol.412
, pp. 499-506
-
-
Bakkenist, C.J.1
Kastan, M.B.2
-
3
-
-
0001183734
-
Ataxia telangiectasia
-
Vinken VJ, Bruyn SW, de Jong JMBV, eds. New York: Elsevier Science
-
Segwick RP, Boder E. Ataxia telangiectasia. In: Vinken VJ, Bruyn SW, de Jong JMBV, eds. Handbook of Clinical Neurology, Vol 60: Hereditary Neuropathies and Spino-cerebellar Atrophies. New York: Elsevier Science; 1991:347-393.
-
(1991)
Handbook of Clinical Neurology, Vol 60: Hereditary Neuropathies and Spino-cerebellar Atrophies
, pp. 347-393
-
-
Segwick, R.P.1
Boder, E.2
-
4
-
-
1842614985
-
Slow Progression of Ataxia-Telangiectasia with Double Missense and in Frame Splice Mutations
-
Dork T, Bendix-Walters R, Wegner RD, Stumm M. Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. Am J Med 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
-
5
-
-
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 neurologic presentation despite null ATM mutation and severe cellular phenotype. Am J Med 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
-
6
-
-
69449090994
-
Clinical spectrum of ataxia-telangiectasia in adulthood
-
Verhagen MMM, Abdo WF, Willemsen MAAP, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009;73:430-437.
-
(2009)
Neurology
, vol.73
, pp. 430-437
-
-
Verhagen, M.M.M.1
Abdo, W.F.2
Willemsen, M.A.A.P.3
-
7
-
-
0344062639
-
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression
-
DOI 10.1016/j.ymgme.2003.09.008
-
Chun HH, Sun X, Nahas SA, et al. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab 2003;80:437-443. (Pubitemid 37491205)
-
(2003)
Molecular Genetics and Metabolism
, vol.80
, Issue.4
, pp. 437-443
-
-
Chun, H.H.1
Sun, X.2
Nahas, S.A.3
Teraoka, S.4
Lai, C.-H.5
Concannon, P.6
Gatti, R.A.7
-
8
-
-
62149091065
-
Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes
-
Nahas SA, Butch AW, Du L, Gatti RA. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem 2009;55:463-472.
-
(2009)
Clin Chem
, vol.55
, pp. 463-472
-
-
Nahas, S.A.1
Butch, A.W.2
Du, L.3
Gatti, R.A.4
-
9
-
-
12144288304
-
Five Haplotypes Account for Fifty-Five Percent of ATM Mutations in Brazilian Patients with Ataxia Telangiectasia: Seven New Mutations
-
Coutinho G, Mitui M, Campbell C, et al. Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia-telangiectasia: seven new mutations. Am J Med Genet A 2004;126A:33-40. (Pubitemid 38436470)
-
(2004)
American Journal of Medical Genetics
, vol.126 A
, Issue.1
, pp. 33-40
-
-
Coutinho, G.1
Mitui, M.2
Campbell, C.3
Costa Carvalho, B.T.4
Nahas, S.5
Sun, X.6
Huo, Y.7
Lai, C.-H.8
Thorstenson, Y.9
Tanouye, R.10
Raskin, S.11
Kim, C.A.12
Llerena Jr., J.13
Gatti, R.A.14
-
10
-
-
58349092535
-
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: Mutations with increased cancer risk
-
Mitui M, Nahas SA, Du LT, et al. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat 2009;30:12-21.
-
(2009)
Hum Mutat
, vol.30
, pp. 12-21
-
-
Mitui, M.1
Nahas, S.A.2
Du, L.T.3
|