-
1
-
-
0029848852
-
Update on nomenclature for human gene mutations
-
Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
-
(1996)
Hum Mutat
, vol.8
, pp. 197-202
-
-
-
2
-
-
0025730640
-
A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells
-
Andrews NC, Faller DV (1991) A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells. Nucleic Acids Res 19: 1499
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1499
-
-
Andrews, N.C.1
Faller, D.V.2
-
3
-
-
0030482567
-
Molecular genotyping shows that ataxia telangiectasia heterozygotes are predisposed to breast cancer
-
Athma P, Rappaport R, Swift M (1996) Molecular genotyping shows that ataxia telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 42:130-134
-
(1996)
Cancer Genet Cytogenet
, vol.42
, pp. 130-134
-
-
Athma, P.1
Rappaport, R.2
Swift, M.3
-
4
-
-
0030049418
-
Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia
-
Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, McGuire GM, Thick JA, et al (1996) Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia. Hum Mol Genet 5:145-149
-
(1996)
Hum Mol Genet
, vol.5
, pp. 145-149
-
-
Byrd, P.J.1
McConville, C.M.2
Cooper, P.3
Parkhill, J.4
Stankovic, T.5
McGuire, G.M.6
Thick, J.A.7
-
5
-
-
0028575693
-
Cancer risk in A-T heterozygotes
-
Easton DF (1994) Cancer risk in A-T heterozygotes. Int J Radiat Biol Suppl 66:S177-S182
-
(1994)
Int J Radiat Biol Suppl
, vol.66
-
-
Easton, D.F.1
-
6
-
-
0031029676
-
Heterozygous ATM mutations do not contribute to early onset of breast cancer
-
FitzGerald MG, Bean JM, Hegde SR, Unsal H, MacDonald DJ, Harkin DP, Finkelstein DM, et al (1997) Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 15:307-310
-
(1997)
Nat Genet
, vol.15
, pp. 307-310
-
-
FitzGerald, M.G.1
Bean, J.M.2
Hegde, S.R.3
Unsal, H.4
MacDonald, D.J.5
Harkin, D.P.6
Finkelstein, D.M.7
-
7
-
-
0029816348
-
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa
-
Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M (1996) Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet 59:292-300
-
(1996)
Am J Hum Genet
, vol.59
, pp. 292-300
-
-
Gardella, R.1
Belletti, L.2
Zoppi, N.3
Marini, D.4
Barlati, S.5
Colombi, M.6
-
8
-
-
13344269672
-
Predominance of null mutations in ataxia-telangiectasia
-
Gilad S, Khorsavi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, et al (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
Khorsavi, R.2
Shkedy, D.3
Uziel, T.4
Ziv, Y.5
Savitsky, K.6
Rotman, G.7
-
9
-
-
10244227923
-
The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes
-
Keegan KS, Holtzman DA, Plug AW, Christenson ER, Brainerd EE, Flaggs, G, Bentley NJ, et al (1996) The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. Genes Dev 10:2423-2437
-
(1996)
Genes Dev
, vol.10
, pp. 2423-2437
-
-
Keegan, K.S.1
Holtzman, D.A.2
Plug, A.W.3
Christenson, E.R.4
Brainerd, E.E.5
Flaggs, G.6
Bentley, N.J.7
-
10
-
-
0031092272
-
The human gene mutation database
-
Krawczak M, Cooper DN (1997) The human gene mutation database. Trends Genet 13:121-122
-
(1997)
Trends Genet
, vol.13
, pp. 121-122
-
-
Krawczak, M.1
Cooper, D.N.2
-
11
-
-
0030472725
-
Analysis of the ATM protein in wild type and ataxia telangiectasia cells
-
Lakin ND, Weber P, Stankovic T, Rottinghaus ST, Taylor AMR, Jackson SP (1996) Analysis of the ATM protein in wild type and ataxia telangiectasia cells. Oncogene 13: 2707-2716
-
(1996)
Oncogene
, vol.13
, pp. 2707-2716
-
-
Lakin, N.D.1
Weber, P.2
Stankovic, T.3
Rottinghaus, S.T.4
Taylor, A.M.R.5
Jackson, S.P.6
-
12
-
-
0028800690
-
Restriction endonuclease finger-printing (REF): A sensitive method for screening mutations in long, contiguous segments of DNA
-
Liu Q, Sommer SS (1995) Restriction endonuclease finger-printing (REF): a sensitive method for screening mutations in long, contiguous segments of DNA. BioTechniques 18: 470-477
-
(1995)
BioTechniques
, vol.18
, pp. 470-477
-
-
Liu, Q.1
Sommer, S.S.2
-
13
-
-
0029819493
-
Mutations associated with variant phenotypes in ataxia-telangiectasia
-
McConville CM, Stankovic T, Byrd PJ, McGuire GM, Yao Q-Y, Lennox GG, Taylor AMR (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, A.M.R.7
-
14
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, et al (1995a) 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
-
15
-
-
0028827312
-
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
-
Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Shiloh Y, Rotman G (1995b) The complete sequence of the coding region of the ATM gene reveals 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.A.3
Ziv, Y.4
Sartiel, A.5
Shiloh, Y.6
Rotman, G.7
-
16
-
-
0001183734
-
Ataxia-telangiectasia
-
de Jong JMJV (ed) Hereditary neuropathies and spinocerebellar atrophies. Elsevier, Amsterdam
-
Sedgwick RP, Boder E (1991). Ataxia-telangiectasia. In: de Jong JMJV (ed) Hereditary neuropathies and spinocerebellar atrophies. Vol 16 in: Handbook of clinical neurology. Elsevier, Amsterdam, pp 347-423
-
(1991)
Handbook of Clinical Neurology
, vol.16
, pp. 347-423
-
-
Sedgwick, R.P.1
Boder, E.2
-
17
-
-
0001925579
-
Epidemiology of cancer in ataxia-telangiectasia
-
Bridges BA, Harnden DG (eds) John Wiley, Chichester
-
Spector BD, Filipovich AM, Perry GS, Kersey KS (1982) Epidemiology of cancer in ataxia-telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia-telangiectasia - a cellular and molecular link between cancer, neuropathology and immune deficiency. John Wiley, Chichester, pp 103-138
-
(1982)
Ataxia-telangiectasia - A Cellular and Molecular Link between Cancer, Neuropathology and Immune Deficiency
, pp. 103-138
-
-
Spector, B.D.1
Filipovich, A.M.2
Perry, G.S.3
Kersey, K.S.4
-
18
-
-
0022992181
-
The incidence and gene frequency of ataxia telangiectasia in the United States
-
Swift M, Morell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxia telangiectasia in the United States. Am J Hum Genet 39:573-583
-
(1986)
Am J Hum Genet
, vol.39
, pp. 573-583
-
-
Swift, M.1
Morell, D.2
Cromartie, E.3
Chamberlin, A.R.4
Skolnick, M.H.5
Bishop, D.T.6
-
19
-
-
0026409331
-
Incidence of cancer in 161 families affected by ataxia-telangiectasia
-
Swift M, Morrell D, Massey RB Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831-1836
-
(1991)
N Engl J Med
, vol.325
, pp. 1831-1836
-
-
Swift, M.1
Morrell, D.2
Massey, R.B.3
Chase, C.L.4
-
20
-
-
0023247373
-
Variant forms of ataxia telangiectasia
-
Taylor AMR, Flude E, Laher B, Stacey M, McKay E, Watt J, Green SH, et al (1986) Variant forms of ataxia telangiectasia. J Med Genet 24:669-677
-
(1986)
J Med Genet
, vol.24
, pp. 669-677
-
-
Taylor, A.M.R.1
Flude, E.2
Laher, B.3
Stacey, M.4
McKay, E.5
Watt, J.6
Green, S.H.7
-
21
-
-
0002845437
-
Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients
-
Eeles RA, Ponder BAJ, Eastern DF, Horwich D (eds) Chapman & Hall, London
-
Taylor AMR, Hernandez D, McConville CM, Woods CG, Stacey M, Biggs P, Byrd PJ, et al (1996a) Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients. In: Eeles RA, Ponder BAJ, Eastern DF, Horwich D (eds) Genetic predisposition to cancer. Chapman & Hall, London, pp 138-151
-
(1996)
Genetic Predisposition to Cancer
, pp. 138-151
-
-
Taylor, A.M.R.1
Hernandez, D.2
McConville, C.M.3
Woods, C.G.4
Stacey, M.5
Biggs, P.6
Byrd, P.J.7
-
23
-
-
0029890959
-
Ataxia-telangiectasia: Mutations in ATM cDNA detected by protein-truncation screening
-
Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, et al (1996) Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am J Hum Genet 59:40-44
-
(1996)
Am J Hum Genet
, vol.59
, pp. 40-44
-
-
Telatar, M.1
Wang, Z.2
Udar, N.3
Liang, T.4
Bernatowska-Matuszkiewicz, E.5
Lavin, M.6
Shiloh, Y.7
-
24
-
-
17144453056
-
Genomic organisation of the ATM gene
-
Uziel T, Savitsky K, Platzer M, Ziv Y, Helbitz T, Nehls M, Boehm T, et al (1996) Genomic organisation of the ATM gene. Genomics 33:313-320
-
(1996)
Genomics
, vol.33
, pp. 313-320
-
-
Uziel, T.1
Savitsky, K.2
Platzer, M.3
Ziv, Y.4
Helbitz, T.5
Nehls, M.6
Boehm, T.7
-
25
-
-
16944367148
-
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T cell leukaemia
-
Vorechovsky I, Luo L, Dyer MJS, Catovsky D, Amlot PL, Yaxley JC, Foroni L, et al (1997) Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T cell leukaemia. Nat Genet 17:96-99
-
(1997)
Nat Genet
, vol.17
, pp. 96-99
-
-
Vorechovsky, I.1
Luo, L.2
Dyer, M.J.S.3
Catovsky, D.4
Amlot, P.L.5
Yaxley, J.C.6
Foroni, L.7
-
26
-
-
0029798776
-
A high frequency of distinct ATM mutations in ataxia-telangiectasia
-
Wright J, Teraoka S, Onengut 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
Onengut, S.3
Tolun, A.4
Gatti, R.A.5
Ochs, H.D.6
Concannon, P.7
-
27
-
-
0029844048
-
Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects and thymic lymphoma
-
Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn MS, Baltimore D (1996) Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects and thymic lymphoma. Genes Dev 10: 2411-2422
-
(1996)
Genes Dev
, vol.10
, pp. 2411-2422
-
-
Xu, Y.1
Ashley, T.2
Brainerd, E.E.3
Bronson, R.T.4
Meyn, M.S.5
Baltimore, D.6
-
28
-
-
0019834605
-
Cytogenetic anomalies in a patient with ataxia, immune deficiency and high alpha-fetoprotein in the absence of telangiectasia
-
Ying KL, DeCoteau WE (1981) Cytogenetic anomalies in a patient with ataxia, immune deficiency and high alpha-fetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4:311-317
-
(1981)
Cancer Genet Cytogenet
, vol.4
, pp. 311-317
-
-
Ying, K.L.1
DeCoteau, W.E.2
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