-
1
-
-
0001183734
-
Ataxia-telangiectasia. Hereditary neuropathies and spinocerebellar atrophies
-
Vinken PJ, Bruyn GW, Klawans HK (eds). Elsevier, Amsterdam
-
1. Sedgwick PP, Boder E (1991) Ataxia-telangiectasia. Hereditary neuropathies and spinocerebellar atrophies. In: Vinken PJ, Bruyn GW, Klawans HK (eds) Handbook of clinical neurology, vol 16. Elsevier, Amsterdam, pp 347-423
-
(1991)
Handbook of Clinical Neurology
, vol.16
, pp. 347-423
-
-
Sedgwick, P.P.1
Boder, E.2
-
2
-
-
0022305154
-
In-vitro phenotype of A-T fibroblast strains: Clues to the nature of the "a-t DNA lesion" and the molecular defect in A-T
-
Gatti RA, Swift M (eds). Liss, New York
-
2. Shiloh Y, Tabor E, Becker Y (1985) In-vitro phenotype of A-T fibroblast strains: clues to the nature of the "A-T DNA lesion" and the molecular defect in A-T. In: Gatti RA, Swift M (eds) Ataxia telangiectasia: genetic, neuropathology and immunology of a degenerative disease of childhood. Liss, New York, pp 111-121
-
(1985)
Ataxia Telangiectasia: Genetic, Neuropathology and Immunology of a Degenerative Disease of Childhood
, pp. 111-121
-
-
Shiloh, Y.1
Tabor, E.2
Becker, Y.3
-
3
-
-
0029002103
-
Ataxia telangiectasia: Closer to unravelling the mystery
-
3. Shiloh Y (1995) Ataxia telangiectasia: closer to unravelling the mystery. Eur J Hum Genet 33:116-138
-
(1995)
Eur J Hum Genet
, vol.33
, pp. 116-138
-
-
Shiloh, Y.1
-
4
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
4. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Sankhavaram RP, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Ozden S, Lavin W, Jaspers NW, Taylor MR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-1753
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
Rotman, G.4
Ziv, Y.5
Vanagaite, L.6
Tagle, D.A.7
Smith, S.8
Uziel, T.9
Sfez, S.10
Ashkenazi, M.11
Pecker, I.12
Frydman, M.13
Harnik, R.14
Sankhavaram, R.P.15
Simmons, A.16
Clines, G.A.17
Sartiel, A.18
Gatti, R.A.19
Chessa, L.20
Ozden, S.21
Lavin, W.22
Jaspers, N.W.23
Taylor, M.R.24
Arlett, C.F.25
Miki, T.26
Weissman, S.M.27
Lovett, M.28
Collins, F.S.29
Shiloh, Y.30
more..
-
5
-
-
17144453056
-
Genomic organization of the ATM gene
-
5. Uziel T, Savitsky K, Platzer M, Ziv Y, Helbits T, NehIs M, Boehm T, Rosenthal A, Shiloh Y, Rotman G (1996) Genomic organization of the ATM gene. Genomics 33:317-320
-
(1996)
Genomics
, vol.33
, pp. 317-320
-
-
Uziel, T.1
Savitsky, K.2
Platzer, M.3
Ziv, Y.4
Helbits, T.5
NehIs, M.6
Boehm, T.7
Rosenthal, A.8
Shiloh, Y.9
Rotman, G.10
-
6
-
-
0028827312
-
The complete sequence of the coding region of the ATM gene intervals similarity to cell cycle regulators in different species
-
6. Savitsky K, Sfez S, Tagle D, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G (1995) The complete sequence of the coding region of the ATM gene intervals similarity to cell cycle regulators in different species. Hum Mol Genet 4:2025-2032
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2025-2032
-
-
Savitsky, K.1
Sfez, S.2
Tagle, D.3
Ziv, Y.4
Sartiel, A.5
Collins, F.S.6
Shiloh, Y.7
Rotman, G.8
-
7
-
-
0028791445
-
Relationship of the ataxia-telangiectasia gene, ATM to phosphtidylinositol 3-kinase
-
7. Lavin NW, Khanna KK, Beamish H, Spring K, Watters D, Shilob Y (1995) Relationship of the ataxia-telangiectasia gene, ATM to phosphtidylinositol 3-kinase. Trends Biochem Sci 20:382-383
-
(1995)
Trends Biochem Sci
, vol.20
, pp. 382-383
-
-
Lavin, N.W.1
Khanna, K.K.2
Beamish, H.3
Spring, K.4
Watters, D.5
Shilob, Y.6
-
8
-
-
13344269672
-
Predominance of null mutations in ataxia telangiectasia
-
8. Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitzky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R (1996) Predominance of null mutations in ataxia telangiectasia. Hum Mol Genet 5:433-439
-
(1996)
Hum Mol Genet
, vol.5
, pp. 433-439
-
-
Gilad, S.1
Khosravi, R.2
Shkedy, D.3
Uziel, T.4
Ziv, Y.5
Savitzky, K.6
Rotman, G.7
Smith, S.8
Chessa, L.9
Jorgensen, T.J.10
Harnik, R.11
-
9
-
-
0030010029
-
New mutations in ataxia telangiectasia gene
-
9. Baumer A, Bernthaler U, Wolz W, Hoehn H, Schindler D (1996) New mutations in ataxia telangiectasia gene. Hum Genet 98:246-249
-
(1996)
Hum Genet
, vol.98
, pp. 246-249
-
-
Baumer, A.1
Bernthaler, U.2
Wolz, W.3
Hoehn, H.4
Schindler, D.5
-
10
-
-
0030049418
-
Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia
-
10. Byrd Pl, McConville CM, Cooper P, Parkhill J, Stankovic T, McGurire GM, Thick JA (1995) Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia. Hum Mol Genet 5:145-149
-
(1995)
Hum Mol Genet
, vol.5
, pp. 145-149
-
-
Byrd, P.1
McConville, C.M.2
Cooper, P.3
Parkhill, J.4
Stankovic, T.5
McGurire, G.M.6
Thick, J.A.7
-
11
-
-
0029890959
-
Ataxia telangiectasia: Mutations in ATM detected by protein truncation screening
-
11. Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matsuszkewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA (1996) Ataxia telangiectasia: mutations in ATM detected by protein truncation screening. Am J Hum Genet 59:40-49
-
(1996)
Am J Hum Genet
, vol.59
, pp. 40-49
-
-
Telatar, M.1
Wang, Z.2
Udar, N.3
Liang, T.4
Bernatowska-Matsuszkewicz, E.5
Lavin, M.6
Shiloh, Y.7
Concannon, P.8
Good, R.A.9
Gatti, R.A.10
-
12
-
-
0029798776
-
A high frequency of distinct ATM mutations in ataxia telangiectasia
-
12. Wright J, Teraoka S, Onegut S, Tolun A, Gatti RA, Ochs HD, Concannon P (1996) A high frequency of distinct ATM mutations in ataxia telangiectasia. Am J Hum Genet 59:839-846
-
(1996)
Am J Hum Genet
, vol.59
, pp. 839-846
-
-
Wright, J.1
Teraoka, S.2
Onegut, S.3
Tolun, A.4
Gatti, R.A.5
Ochs, H.D.6
Concannon, P.7
-
14
-
-
0028960841
-
Recent human germline mutation: Inferences from patients with hemophilia B
-
14. Sommer S (1995) Recent human germline mutation: Inferences from patients with hemophilia B. Trends Genet 11:141-147
-
(1995)
Trends Genet
, vol.11
, pp. 141-147
-
-
Sommer, S.1
-
15
-
-
0029819493
-
Mutations associated with variant phenotypes in Ataxia Telangiectasia
-
15. McConville CM, Stankovic T, Byrd PJ, McGuire GM, Yao QY, Lennox GG, Taylor MR (1996) Mutations associated with variant phenotypes in Ataxia Telangiectasia. Am J Hum Genet 59:320-330
-
(1996)
Am J Hum Genet
, vol.59
, pp. 320-330
-
-
McConville, C.M.1
Stankovic, T.2
Byrd, P.J.3
McGuire, G.M.4
Yao, Q.Y.5
Lennox, G.G.6
Taylor, M.R.7
-
16
-
-
0023247373
-
Variant forms of ataxia telangiectasia
-
16. Taylor AMP, Flude E, Laher B, Stacey M, McKay E, Watt J, Green SH, Harding AE (1987) Variant forms of ataxia telangiectasia. J Med Genet 24:669-677
-
(1987)
J Med Genet
, vol.24
, pp. 669-677
-
-
Taylor, A.M.P.1
Flude, E.2
Laher, B.3
Stacey, M.4
McKay, E.5
Watt, J.6
Green, S.H.7
Harding, A.E.8
-
17
-
-
0002845437
-
Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients
-
Eeles RA, Ponder BAJ, Easton DF, Horwich A (eds) Chapinan and Hall, London
-
17. Taylor AMP, Hernandez D, McConville CM, Woods CG, Stacey M, Biggs P, Byrd PJ (1996) Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients. In: Eeles RA, Ponder BAJ, Easton DF, Horwich A (eds) Genetic predisposition to cancer. Chapinan and Hall, London, pp 138-151
-
(1996)
Genetic Predisposition to Cancer
, pp. 138-151
-
-
Taylor, A.M.P.1
Hernandez, D.2
McConville, C.M.3
Woods, C.G.4
Stacey, M.5
Biggs, P.6
Byrd, P.J.7
-
18
-
-
0009662672
-
Clinical variants of ataxia-telangiectasia
-
Gatti RA, Painter RB (eds) Springer, Berlin Heidelberg New York
-
18. Sanal O, Berkel AI, Ersoy F, Tezcan I, Topaglu H (1993) Clinical variants of ataxia-telangiectasia. In: Gatti RA, Painter RB (eds) Ataxia telangiectasia. NATO ASI series, series H, vol 77. Springer, Berlin Heidelberg New York, pp 183-189
-
(1993)
Ataxia Telangiectasia. NATO ASI Series, Series H
, vol.77
, pp. 183-189
-
-
Sanal, O.1
Berkel, A.I.2
Ersoy, F.3
Tezcan, I.4
Topaglu, H.5
-
19
-
-
0024586982
-
Ataxia telangiectasia: A variant with altered in vitro phenotype of fibroblast cells
-
19. Ziv Y, Amiel A, Jaspers NGJ, Berkel AI, Shiloh Y (1989) Ataxia telangiectasia: a variant with altered in vitro phenotype of fibroblast cells. Mutat Res 210:211-219
-
(1989)
Mutat Res
, vol.210
, pp. 211-219
-
-
Ziv, Y.1
Amiel, A.2
Jaspers, N.G.J.3
Berkel, A.I.4
Shiloh, Y.5
-
20
-
-
0026549535
-
Heterogeneity in ataxia telangiectasia classical phenotype associated with intermediate radiosensitivity
-
20. Chessa L, Petrinelli P, Antonell A, Fiorilli R (1992) Heterogeneity in ataxia telangiectasia classical phenotype associated with intermediate radiosensitivity. Am J Med Genet 42:741-746
-
(1992)
Am J Med Genet
, vol.42
, pp. 741-746
-
-
Chessa, L.1
Petrinelli, P.2
Antonell, A.3
Fiorilli, R.4
-
21
-
-
0000051671
-
Clinical and cellular heterogeneity in ataxia telangiectasia
-
Gatti RA, Painter RB (eds). Springer, Berlin Heidelberg New York
-
21. Taylor AMR, McConville CM, Woods CG, Byrd PJ, Hernandez D (1993) Clinical and cellular heterogeneity in ataxia telangiectasia. In: Gatti RA, Painter RB (eds) Ataxia-telangiectasia. NATO ASI series, series H, vol 77. Springer, Berlin Heidelberg New York, pp 209-234
-
(1993)
Ataxia-telangiectasia. NATO ASI Series, Series H
, vol.77
, pp. 209-234
-
-
Taylor, A.M.R.1
McConville, C.M.2
Woods, C.G.3
Byrd, P.J.4
Hernandez, D.5
-
22
-
-
17344370225
-
Genotype-phenotype relationships in ataxia telangiectasia (A-T) and A-T variants
-
22. Gilad S, Chessa E, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen U, Shiloh Y, Bar-Shira A (1998) Genotype-phenotype relationships in ataxia telangiectasia (A-T) and A-T variants. Am J Hum Genet 62:551-561
-
(1998)
Am J Hum Genet
, vol.62
, pp. 551-561
-
-
Gilad, S.1
Chessa, E.2
Khosravi, R.3
Russell, P.4
Galanty, Y.5
Piane, M.6
Gatti, R.A.7
Jorgensen, U.8
Shiloh, Y.9
Bar-Shira, A.10
-
24
-
-
0031611465
-
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel
-
24. Gilad S, Khosravi R, Harnik R, Ziv Y, Shkedy D, Galanty Y, Frydman M, Levi J, Sanal O, Chessa L, Smeets D, Shiloh Y, Bar-Shira A (1998) 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 11:69-75
-
(1998)
Hum Mutat
, vol.11
, pp. 69-75
-
-
Gilad, S.1
Khosravi, R.2
Harnik, R.3
Ziv, Y.4
Shkedy, D.5
Galanty, Y.6
Frydman, M.7
Levi, J.8
Sanal, O.9
Chessa, L.10
Smeets, D.11
Shiloh, Y.12
Bar-Shira, A.13
-
25
-
-
0019834605
-
Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia
-
25. Ying KL, Decoteau WE (1983) Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4:311-317
-
(1983)
Cancer Genet Cytogenet
, vol.4
, pp. 311-317
-
-
Ying, K.L.1
Decoteau, W.E.2
-
26
-
-
0021741547
-
Ataxia without telangiectasia
-
26. Byrne E, Hallpike JF, Manson JI, Sutherland GR, Thong YH (1984) Ataxia without telangiectasia. J Neurol Sci 66:307-317
-
(1984)
J Neurol Sci
, vol.66
, pp. 307-317
-
-
Byrne, E.1
Hallpike, J.F.2
Manson, J.I.3
Sutherland, G.R.4
Thong, Y.H.5
-
27
-
-
0023684502
-
Ataxia-ocular motor apraxia: A syndrome mimicking ataxia-telangiectasia
-
27. Aicardi J, Barbosa C, Andermann E, Andermann F, Morcos R, Ghanem Q, Fukuyama Y, Awaya Y, Moe P (1988) Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol 24:497-502
-
(1988)
Ann Neurol
, vol.24
, pp. 497-502
-
-
Aicardi, J.1
Barbosa, C.2
Andermann, E.3
Andermann, F.4
Morcos, R.5
Ghanem, Q.6
Fukuyama, Y.7
Awaya, Y.8
Moe, P.9
-
28
-
-
0023700075
-
Ataxia without telangiectasia in two sisters with rearrangements of chromosomes 7 and 14
-
28. Maserati E, Ottolin A, Veggiotti P, Lanzi G, Pasquali F (1988) Ataxia without telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clin Genet 34:283-287
-
(1988)
Clin Genet
, vol.34
, pp. 283-287
-
-
Maserati, E.1
Ottolin, A.2
Veggiotti, P.3
Lanzi, G.4
Pasquali, F.5
-
29
-
-
0027208059
-
Ataxia without telangiectasia
-
29. Friedman JH, Weitberg A (1993) Ataxia without telangiectasia. Mov Dis 8:223-226
-
(1993)
Mov Dis
, vol.8
, pp. 223-226
-
-
Friedman, J.H.1
Weitberg, A.2
|