-
1
-
-
0015504248
-
Rate of depurination of native deoxyribonucleic acid
-
Lindahl T, Nyberg B. Rate of depurination of native deoxyribonucleic acid. Biochemistry 1972;11:3610-8.
-
(1972)
Biochemistry
, vol.11
, pp. 3610-3618
-
-
Lindahl, T.1
Nyberg, B.2
-
2
-
-
0003082983
-
Endogenous mutagenesis
-
Eeles RA, Ponder BAJ, Easton DF, et al, eds. London: Chapman and Hall
-
Feig DI, Loeb LA. Endogenous mutagenesis. In: Eeles RA, Ponder BAJ, Easton DF, et al, eds. Genetic pre-disposition to cancer. London: Chapman and Hall, 1996: 175-85.
-
(1996)
Genetic Pre-disposition to Cancer
, pp. 175-185
-
-
Feig, D.I.1
Loeb, L.A.2
-
3
-
-
0028885363
-
Different forms of TFIIH for transcription in DNA repair
-
Svejstrup JQ, Wang Z, Feaver WJ, et al. Different forms of TFIIH for transcription in DNA repair. Cell 1995;80:21-8.
-
(1995)
Cell
, vol.80
, pp. 21-28
-
-
Svejstrup, J.Q.1
Wang, Z.2
Feaver, W.J.3
-
4
-
-
0029833872
-
Hereditary non-polyposis colorectal cancer
-
Lynch HT, Smyrk T. Hereditary non-polyposis colorectal cancer. Cancer 1996;78:1149-67.
-
(1996)
Cancer
, vol.78
, pp. 1149-1167
-
-
Lynch, H.T.1
Smyrk, T.2
-
5
-
-
84944972302
-
Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs
-
Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child 1954;88: 754-8.
-
(1954)
Am J Dis Child
, vol.88
, pp. 754-758
-
-
Bloom, D.1
-
6
-
-
3042945232
-
Bloom syndrome VIII. Review of clinical genetic aspects
-
Goodman RM, Motulsky AG, eds. New Year: Raven Press
-
German J, Bloom D, Passarge E. Bloom syndrome VIII. Review of clinical genetic aspects. In: Goodman RM, Motulsky AG, eds. Genetic disease among Ashkenazi Jews. New Year: Raven Press, 1979: 121-39.
-
(1979)
Genetic Disease among Ashkenazi Jews
, pp. 121-139
-
-
German, J.1
Bloom, D.2
Passarge, E.3
-
7
-
-
13344276479
-
Bloom syndrome X. The cancer proneness points to chromsome mutation as a crucial event in human neoplasia
-
German J, eds. New York: Alan R Liss
-
German J. Bloom syndrome X. The cancer proneness points to chromsome mutation as a crucial event in human neoplasia. In: German J, eds. Chromosome mutation and neoplasia. New York: Alan R Liss, 1983: 347-57.
-
(1983)
Chromosome Mutation and Neoplasia
, pp. 347-357
-
-
German, J.1
-
8
-
-
0029814277
-
The molecular genetics of Bloom syndrome
-
Ellis MA, German J. The molecular genetics of Bloom syndrome. Hum Mol Genet 1996;5:1457-63.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1457-1463
-
-
Ellis, M.A.1
German, J.2
-
9
-
-
0016832693
-
Ataxia telangiectasia: Some historic clinical and pathological observations
-
Boder E. Ataxia telangiectasia: some historic clinical and pathological observations. Birth Defects Original Article Series 1975;11:255-70.
-
(1975)
Birth Defects Original Article Series
, vol.11
, pp. 255-270
-
-
Boder, E.1
-
10
-
-
0026612460
-
Ataxic telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals
-
Woods CG, Taylor AMR. Ataxic telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992;82:169-79.
-
(1992)
Q J Med
, vol.82
, pp. 169-179
-
-
Woods, C.G.1
Taylor, A.M.R.2
-
11
-
-
0024205754
-
Localisation of the ataxia-telangiectasia gene to chromosome 11q22-23
-
Gatti RA, Berkel I, Boder E. Localisation of the ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-9.
-
(1988)
Nature
, vol.336
, pp. 577-579
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
-
12
-
-
0029057336
-
A single ataxia-telangiectasia gene with a product similar to a PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia-telangiectasia gene with a product similar to a PI-3 kinase. Science 1995;268:1749-53.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
13
-
-
0023247373
-
Variant forms of ataxia telangiectasia
-
Taylor AMR, Flude E, Laher B, et al. Variant forms of ataxia telangiectasia. J Med Genet 1987;24:6659-77.
-
(1987)
J Med Genet
, vol.24
, pp. 6659-6677
-
-
Taylor, A.M.R.1
Flude, E.2
Laher, B.3
-
14
-
-
0001306494
-
Familiäre infantile perniziosaartige anämie
-
Fanconi G. Familiäre infantile perniziosaartige anämie. Z Kinderheilk 1927;117:257.
-
(1927)
Z Kinderheilk
, vol.117
, pp. 257
-
-
Fanconi, G.1
-
15
-
-
0006598593
-
Fanconi anaemia in the Netherlands
-
Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Berlin: Springer Verlag
-
Kwee ML, Kuyt LP. Fanconi anaemia in the Netherlands. In: Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Fanconi anaemia. Berlin: Springer Verlag, 1989: 18-33.
-
(1989)
Fanconi Anaemia
, pp. 18-33
-
-
Kwee, M.L.1
Kuyt, L.P.2
-
16
-
-
0007045058
-
Therapeutic aspects of Fanconi anaemia
-
Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Berlin: Springer Verlag
-
Hebell W, Frederick W, Kohne E. Therapeutic aspects of Fanconi anaemia. In: Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Fanconi anaemia. Berlin: Springer Verlag, 1989: 47-59.
-
(1989)
Fanconi Anaemia
, pp. 47-59
-
-
Hebell, W.1
Frederick, W.2
Kohne, E.3
-
17
-
-
15144346089
-
Severe intrauterine growth retardation and mitomycin C sensitivity; a new chromosome breakage syndrome
-
Woods CG, Leversa J, Rogers J. Severe intrauterine growth retardation and mitomycin C sensitivity; a new chromosome breakage syndrome. J Med Genet 1995;34:203-6.
-
(1995)
J Med Genet
, vol.34
, pp. 203-206
-
-
Woods, C.G.1
Leversa, J.2
Rogers, J.3
-
18
-
-
0005667361
-
Diepoxybutane test for pre-natal and post-natal diagnosis of Fanconi anaemia
-
Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Berlin: Springer Verlag
-
Auerbach AD, Ghosh R, Pollio PC, et al. Diepoxybutane test for pre-natal and post-natal diagnosis of Fanconi anaemia. In: Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Fanconi anaemia. Berlin: Springer Verlag, 1989: 71-82.
-
(1989)
Fanconi Anaemia
, pp. 71-82
-
-
Auerbach, A.D.1
Ghosh, R.2
Pollio, P.C.3
-
19
-
-
0026521238
-
Cloning of C DNAs for Fanconi anaemia by function and complementation
-
Strathdee CA, Gavish H, Shannon WR, et al. Cloning of C DNAs for Fanconi anaemia by function and complementation. Nature 1992;356:763-7.
-
(1992)
Nature
, vol.356
, pp. 763-767
-
-
Strathdee, C.A.1
Gavish, H.2
Shannon, W.R.3
-
20
-
-
0030292447
-
Fanconi anaemia forges a novel pathway
-
A'Andea AD. Fanconi anaemia forges a novel pathway. Nat Genet 1996;14:240-2.
-
(1996)
Nat Genet
, vol.14
, pp. 240-242
-
-
A'Andea, A.D.1
-
21
-
-
0014421995
-
Defective repair replication of DNA in xeroderma pigmentosa
-
Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosa. Nature 1968;218:652-6.
-
(1968)
Nature
, vol.218
, pp. 652-656
-
-
Cleaver, J.E.1
-
22
-
-
0023130695
-
Xeroderma pigmentosa: Cutaneous, ocular, and neurological abnormalities in 830 published cases
-
Kramer KH, Rapini RP, Beran M. Xeroderma pigmentosa: cutaneous, ocular, and neurological abnormalities in 830 published cases. Arch Dermatol 1987:123:241-50.
-
(1987)
Arch Dermatol
, vol.123
, pp. 241-250
-
-
Kramer, K.H.1
Rapini, R.P.2
Beran, M.3
-
24
-
-
0026508774
-
Cockayne syndrome: A review of 140 cases
-
Nance MA, Berry SA. Cockayne syndrome: a review of 140 cases. Am J Med Genet 1992;42:68-84.
-
(1992)
Am J Med Genet
, vol.42
, pp. 68-84
-
-
Nance, M.A.1
Berry, S.A.2
-
25
-
-
0003152796
-
Xeroderma pigmentosa, Cockayne syndrome and trichothiodystrophy: Sun-sensitive to DNA repair defects in skin cancer
-
Eeles RA, Ponder BAJ, Easton DF, et al, eds. London: Chapman and Hall
-
Arlett CF, Lehmann AR. Xeroderma pigmentosa, Cockayne syndrome and trichothiodystrophy: sun-sensitive to DNA repair defects in skin cancer. In: Eeles RA, Ponder BAJ, Easton DF, et al, eds. Genetic pre-disposition to cancer. London: Chapman and Hall, 1996: 185-206.
-
(1996)
Genetic Pre-disposition to Cancer
, pp. 185-206
-
-
Arlett, C.F.1
Lehmann, A.R.2
|