-
2
-
-
0022992181
-
The incidence and gene frequency of ataxia-telangiectasia in the United States
-
Swift M, Morrell D, Cromartie E, et al. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet. 1986;39:573-583.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 573-583
-
-
Swift, M.1
Morrell, D.2
Cromartie, E.3
-
3
-
-
0025236412
-
Unusual features in the inheritance of ataxia telangiectasia
-
Woods CG, Bundey SE, Taylor AM. Unusual features in the inheritance of ataxia telangiectasia. Hum Genet. 1990;84:555-562.
-
(1990)
Hum Genet
, vol.84
, pp. 555-562
-
-
Woods, C.G.1
Bundey, S.E.2
Taylor, A.M.3
-
4
-
-
0023244806
-
Breast and other cancers in families with ataxia-telangiectasia
-
Swift M, Reitnauer PJ, Morrell D, et al. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. 1987;316:1289-1294.
-
(1987)
N Engl J Med
, vol.316
, pp. 1289-1294
-
-
Swift, M.1
Reitnauer, P.J.2
Morrell, D.3
-
5
-
-
0343618708
-
The ATM gene and breast cancer: Is it really a risk factor?
-
Angèle S, Hall J. The ATM gene and breast cancer: is it really a risk factor? Mutat Res. 2000;462:167-178.
-
(2000)
Mutat Res
, vol.462
, pp. 167-178
-
-
Angèle, S.1
Hall, J.2
-
6
-
-
0029057336
-
A single ataxia-telangiectasia gene with a product similar to PI 3-kinase
-
Savitsky K, Bar-Shira A, Gilard S, et al. A single ataxia-telangiectasia gene with a product similar to PI 3-kinase. Science. 1995;268:1749-1753.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilard, S.3
-
7
-
-
0034798285
-
ATM genome stability, neuronal development, and cancer cross paths
-
Shiloh Y, Kastan MB. ATM: genome stability, neuronal development, and cancer cross paths. Adv Cancer Res. 2001;83:209-254.
-
(2001)
Adv Cancer Res
, vol.83
, pp. 209-254
-
-
Shiloh, Y.1
Kastan, M.B.2
-
8
-
-
0035155661
-
ATM, a central controller of cellular responses to DNA damage
-
Khanna KK, Lavin MF, Jackson SP, et al. ATM, a central controller of cellular responses to DNA damage. Cell Death Diff. 2001;8:1052-1065.
-
(2001)
Cell Death Diff
, vol.8
, pp. 1052-1065
-
-
Khanna, K.K.1
Lavin, M.F.2
Jackson, S.P.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
-
Stankovic T, Kidd AMJ, Sutcliffe A, et al. 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. Am J Hum Genet. 1998;62:334-345.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 334-345
-
-
Stankovic, T.1
Kidd, A.M.J.2
Sutcliffe, A.3
-
10
-
-
0029819493
-
Mutations associated with variant phenotypes in ataxia-telangiectasia
-
McConville CM, Stankovic T, Byrd PJ, et al. Mutations associated with variant phenotypes in ataxia-telangiectasia. Am J Hum Genet. 1996;59:320-330.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 320-330
-
-
McConville, C.M.1
Stankovic, T.2
Byrd, P.J.3
-
11
-
-
0033380655
-
Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations
-
Gatti RA, Tward A, Concannon P. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab. 1999;68:419-422.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 419-422
-
-
Gatti, R.A.1
Tward, A.2
Concannon, P.3
-
12
-
-
0032948849
-
Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice
-
Barlow C, Eckhaus MA, Schäffer AA, Wynshaw-Boris A. Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice. Nat Genet., 1999;21:359-360.
-
(1999)
Nat Genet
, vol.21
, pp. 359-360
-
-
Barlow, C.1
Eckhaus, M.A.2
Schäffer, A.A.3
Wynshaw-Boris, A.4
-
14
-
-
0034020799
-
Radiotherapy for age-related macular degeneration: Risk factors, prevention and treatment of side-effects
-
Mauget-Faÿsse M, Coquard R, Français-Maury C, et al. Radiotherapy for age-related macular degeneration: risk factors, prevention and treatment of side-effects. J Fr Ophtalmol. 2000;23:127-136.
-
(2000)
J Fr Ophtalmol
, vol.23
, pp. 127-136
-
-
Mauget-Faÿsse, M.1
Coquard, R.2
Français-Maury, C.3
-
15
-
-
2442754917
-
Long term results of radiotherapy for subfoveal choroidal neovascularisation in age related macular degeneration
-
Mauget-Faÿsse M, Chiquet C, Milea D, et al. Long term results of radiotherapy for subfoveal choroidal neovascularisation in age related macular degeneration. Br J Ophthalmol. 1999;83:923-928.
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 923-928
-
-
Mauget-Faÿsse, M.1
Chiquet, C.2
Milea, D.3
-
16
-
-
0028800690
-
Restriction endonuclease fingerprinting (REF): A sensitive method for screening mutations in long, contiguous segments of DNA
-
Liu Q, Somer SS. Restriction endonuclease fingerprinting (REF): A sensitive method for screening mutations in long, contiguous segments of DNA. Biotechniques. 1995;18:470-477.
-
(1995)
Biotechniques
, vol.18
, pp. 470-477
-
-
Liu, Q.1
Somer, S.S.2
-
17
-
-
0031611465
-
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel
-
Gilad S, Khosravi R, Harnik R, et al. Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel. Hum Mutat. 1998;11:69-75.
-
(1998)
Hum Mutat
, vol.11
, pp. 69-75
-
-
Gilad, S.1
Khosravi, R.2
Harnik, R.3
-
18
-
-
0032952338
-
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
-
Sandoval N, Platzer M, Rosenthal A, et al. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet. 1999;8:69-79.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 69-79
-
-
Sandoval, N.1
Platzer, M.2
Rosenthal, A.3
-
19
-
-
0031788069
-
Genotyping by mass spectrometric analysis of short DNA fragments
-
Laken S, Jackson PE, Kinzler KW, et al. Genotyping by mass spectrometric analysis of short DNA fragments. Nat Biotech. 1998; 16:1352-1356.
-
(1998)
Nat Biotech
, vol.16
, pp. 1352-1356
-
-
Laken, S.1
Jackson, P.E.2
Kinzler, K.W.3
-
20
-
-
0033082846
-
PCR-mediated detection of a polymorphism in the ATM gene
-
Maillet P, Vaudan G, Chappuis P, et al. PCR-mediated detection of a polymorphism in the ATM gene. Mol Cell Probes. 1999;13:67-69.
-
(1999)
Mol Cell Probes
, vol.13
, pp. 67-69
-
-
Maillet, P.1
Vaudan, G.2
Chappuis, P.3
-
21
-
-
13344269672
-
Predominance of null mutations in ataxia-telangiectasia
-
Gilad S, Khosravi R, Shkedy D, et al. Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet. 1996;5:433-439.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 433-439
-
-
Gilad, S.1
Khosravi, R.2
Shkedy, D.3
-
22
-
-
0033993911
-
Bilateral juxtafoveolar telangiectasis in monozygotic twins
-
Menchini U, Virgili G, Bandello F, et al. Bilateral juxtafoveolar telangiectasis in monozygotic twins. Am J Ophthalmol. 2000;129:401-403.
-
(2000)
Am J Ophthalmol
, vol.129
, pp. 401-403
-
-
Menchini, U.1
Virgili, G.2
Bandello, F.3
-
23
-
-
84984754626
-
Familial idiopathic juxtafoveolar retinal telangiectasis
-
Issacs TW, McAllister IL. Familial idiopathic juxtafoveolar retinal telangiectasis. Eye. 1996;10:639-642.
-
(1996)
Eye
, vol.10
, pp. 639-642
-
-
Issacs, T.W.1
McAllister, I.L.2
-
24
-
-
0034080196
-
Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization
-
Leys A, Gilbert HD, Van De Sompel W, et al. Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization. Retina. 2000;20:184-189.
-
(2000)
Retina
, vol.20
, pp. 184-189
-
-
Leys, A.1
Gilbert, H.D.2
Van De Sompel, W.3
-
25
-
-
0022629313
-
Parafoveal telangiectasis and diabetic retinopathy
-
Chew EY, Murphy RP, Newsome DA, et al. Parafoveal telangiectasis and diabetic retinopathy. Arch Ophthalmol. 1986;104:71-75.
-
(1986)
Arch Ophthalmol
, vol.104
, pp. 71-75
-
-
Chew, E.Y.1
Murphy, R.P.2
Newsome, D.A.3
-
26
-
-
0022444178
-
Abnormal glucose metabolism and parafoveal telangiectasia
-
Millay RH, Klein ML, Handelman IL, et al. Abnormal glucose metabolism and parafoveal telangiectasia. Am J Ophthalmol. 1986; 102:363-370.
-
(1986)
Am J Ophthalmol
, vol.102
, pp. 363-370
-
-
Millay, R.H.1
Klein, M.L.2
Handelman, I.L.3
-
27
-
-
12944286619
-
Radiation exposure: A new risk factor for idiopathic perifoveal telangiectasis
-
discussion 2252-2253
-
Maberley DA, Yannuzzi LA, Gitter K, et al. Radiation exposure: a new risk factor for idiopathic perifoveal telangiectasis. Ophthalmology. 1999;106:2248-2252; discussion 2252-2253.
-
(1999)
Ophthalmology
, vol.106
, pp. 2248-2252
-
-
Maberley, D.A.1
Yannuzzi, L.A.2
Gitter, K.3
-
28
-
-
0025352284
-
Idiopathic polypoidal choroidal vasculopathy (IPCV)
-
Yannuzzi LA, Sorenson J, Spaide RF, et al. Idiopathic polypoidal choroidal vasculopathy (IPCV). Retina. 1990;10:1-8.
-
(1990)
Retina
, vol.10
, pp. 1-8
-
-
Yannuzzi, L.A.1
Sorenson, J.2
Spaide, R.F.3
-
29
-
-
0028897863
-
Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy
-
Spaide RF, Yannuzzi LA, Sklater JS, et al. Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy. Retina. 1995;15:100-110.
-
(1995)
Retina
, vol.15
, pp. 100-110
-
-
Spaide, R.F.1
Yannuzzi, L.A.2
Sklater, J.S.3
-
30
-
-
0036253781
-
Apolypoidal choroidal vasculopathy: Natural history
-
Uyama M, Mitsumasa W, Yoshimi N, et al. Apolypoidal choroidal vasculopathy: natural history. Am J Ophthalmol. 2002;133:639-648.
-
(2002)
Am J Ophthalmol
, vol.133
, pp. 639-648
-
-
Uyama, M.1
Mitsumasa, W.2
Yoshimi, N.3
-
31
-
-
0033739990
-
Idiopathic polypoidal choroidal vasculopathy: A disease with diverse clinical spectrum and systemic associations
-
Lip PL, Hope-Ross MW, Gibson JM. Idiopathic polypoidal choroidal vasculopathy: a disease with diverse clinical spectrum and systemic associations. Eye. 2000;14:695-700.
-
(2000)
Eye
, vol.14
, pp. 695-700
-
-
Lip, P.L.1
Hope-Ross, M.W.2
Gibson, J.M.3
-
32
-
-
0036194226
-
Polypoidal choroidal vasculopathy treated with macular translocation: Clinical pathological correlation
-
Terasaki H, Miyake Y, Suzuki T, et al. Polypoidal choroidal vasculopathy treated with macular translocation: clinical pathological correlation. Br J Ophthalmol. 2002;86:321-327.
-
(2002)
Br J Ophthalmol
, vol.86
, pp. 321-327
-
-
Terasaki, H.1
Miyake, Y.2
Suzuki, T.3
-
35
-
-
0034672288
-
A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer
-
Maillet P, Chappuis PO, Vaudan G, et al. A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer. Int J Cancer. 2000;88:928-931.
-
(2000)
Int J Cancer
, vol.88
, pp. 928-931
-
-
Maillet, P.1
Chappuis, P.O.2
Vaudan, G.3
-
36
-
-
0031738103
-
A preliminary report: Frequency of A-T heterozygotes among prostate cancer patients with severe late responses to radiation therapy
-
Hall EJ, Schiff PB, Hanks GE, et al. A preliminary report: frequency of A-T heterozygotes among prostate cancer patients with severe late responses to radiation therapy. Cancer J Sci Am. 1998;4:385-389.
-
(1998)
Cancer J Sci Am
, vol.4
, pp. 385-389
-
-
Hall, E.J.1
Schiff, P.B.2
Hanks, G.E.3
-
37
-
-
0000520601
-
An allelic variant at the ATM locus is implicated in breast cancer susceptibility
-
Larson GP, Zhang G, Ding S, et al. An allelic variant at the ATM locus is implicated in breast cancer susceptibility. Genet Test. 1997-98;1:165-170.
-
(1997)
Genet Test
, vol.1
, pp. 165-170
-
-
Larson, G.P.1
Zhang, G.2
Ding, S.3
-
38
-
-
34247625921
-
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer
-
Spurdle AB, Hopper JL, Chen X, et al. No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Res. [serial online]. 2002;4:R15.
-
(2002)
Breast Cancer Res. [Serial Online]
, vol.4
-
-
Spurdle, A.B.1
Hopper, J.L.2
Chen, X.3
-
39
-
-
0035887491
-
Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients
-
Dork T, Bendix R, Bremer M, et al. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res. [serial online]. 2001;61:7608-7615.
-
(2001)
Cancer Res. [Serial Online]
, vol.61
, pp. 7608-7615
-
-
Dork, T.1
Bendix, R.2
Bremer, M.3
-
40
-
-
0033864070
-
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia
-
Laake K, Jansen L, Hahnemann JM, et al. Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. Hum Mutat. 2000;16:232-246.
-
(2000)
Hum Mutat
, vol.16
, pp. 232-246
-
-
Laake, K.1
Jansen, L.2
Hahnemann, J.M.3
-
41
-
-
0037103190
-
ATM mutations are associated with inactivation of the ARF-TP53 tumour suppresser in diffuse large B-cell lymphoma
-
Grønbæk K, Worm J, Ralfkiaer E, et al. ATM mutations are associated with inactivation of the ARF-TP53 tumour suppresser in diffuse large B-cell lymphoma. Blood. 2002;100:1430-1437.
-
(2002)
Blood
, vol.100
, pp. 1430-1437
-
-
Grønbæk, K.1
Worm, J.2
Ralfkiaer, E.3
-
42
-
-
0031663617
-
ATM: From gene to function
-
Rotman G, Shiloh Y. ATM: from gene to function. Hum Mol Genet. 1998;7:1555-1563.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1555-1563
-
-
Rotman, G.1
Shiloh, Y.2
-
43
-
-
0033662156
-
Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1
-
Yang DQ, Kastan MB. Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1. Nat Cell Biol. 2000;2:893-898.
-
(2000)
Nat Cell Biol
, vol.2
, pp. 893-898
-
-
Yang, D.Q.1
Kastan, M.B.2
|