-
1
-
-
0001490037
-
Contribution a l'independance de l'athetose double idiopathique et congenitale
-
(Paris)
-
Syllaba L, Henner K. Contribution a l'independance de l'athetose double idiopathique et congenitale. Rev Neurol (Paris) 1926; 1:541-562.
-
(1926)
Rev Neurol
, vol.1
, pp. 541-562
-
-
Syllaba, L.1
Henner, K.2
-
2
-
-
0016786321
-
Ataxia telangiectasia: A human mutation with abnormal radiation sensitivity
-
Taylor AM, Harnden DG, Arlett CF, et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 1975; 258:427-429.
-
(1975)
Nature
, vol.258
, pp. 427-429
-
-
Taylor, A.M.1
Harnden, D.G.2
Arlett, C.F.3
-
3
-
-
0036085557
-
Early diagnosis of ataxiatelangiectasia using radiosensitivity testing
-
Sun X, Becker-Catania SG, Chun HH, et al. Early diagnosis of ataxiatelangiectasia using radiosensitivity testing. J Pediatr 2002; 140:724-731.
-
(2002)
J Pediatr
, vol.140
, pp. 724-731
-
-
Sun, X.1
Becker-Catania, S.G.2
Chun, H.H.3
-
4
-
-
0001306494
-
Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution)
-
Jahrbuch für Kinderheilkunde und physische Erziehung
-
Fanconi G. Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien 1927; 117:257-280.
-
(1927)
Wien
, vol.117
, pp. 257-280
-
-
Fanconi, G.1
-
5
-
-
14844288960
-
Postirradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway
-
Nahas SA, Lai CH, Gatti RA. Postirradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway. Int J Radiat Oncol Biol Phys 2005; 61:1167-1172.
-
(2005)
Int J Radiat Oncol Biol Phys
, vol.61
, pp. 1167-1172
-
-
Nahas, S.A.1
Lai, C.H.2
Gatti, R.A.3
-
6
-
-
0000419304
-
-
Agammaglobulinemia, USA.
-
Bruton D. Agammaglobulinemia, USA. Pediatrics 1952; 9:722-728.
-
(1952)
Pediatrics
, vol.9
, pp. 722-728
-
-
Bruton, D.1
-
7
-
-
0028200107
-
Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia and related syndromes
-
Huo YK, Wang Z, Hong J-H, L. et al. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia and related syndromes. Cancer Res 1994; 54:2544-2547.
-
(1994)
Cancer Res
, vol.54
, pp. 2544-2547
-
-
Huo, Y.K.1
Wang, Z.2
Hong -H J, L.3
-
8
-
-
0018597877
-
Adenosine deaminase deficiency: Frequency and comparative pathology in autosomally recessive severe combined immunodeficiency
-
Hirschhorn R, Vawter GF, Kirkpatrick JA Jr, Rosen FS. Adenosine deaminase deficiency: frequency and comparative pathology in autosomally recessive severe combined immunodeficiency. Clin Immunol Immunopathol 1979; 1:107-120.
-
(1979)
Clin Immunol Immunopathol
, vol.1
, pp. 107-120
-
-
Hirschhorn, R.1
Vawter, G.F.2
Kirkpatrick Jr., J.A.3
Rosen, F.S.4
-
9
-
-
0019478575
-
A new chromosomal instability disorder: The Nijmegen breakage syndrome
-
Weemaes CM, Hustinx TW, Scheres JM, et al. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 1981; 70:557-564.
-
(1981)
Acta Paediatr Scand
, vol.70
, pp. 557-564
-
-
Weemaes, C.M.1
Hustinx, T.W.2
Scheres, J.M.3
-
10
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999; 99:577-587.
-
(1999)
Cell
, vol.99
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovic, T.3
-
11
-
-
0033166623
-
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient
-
Riballo E, Critchlow SE, Teo SH, et al. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr Biol 1999; 9:699-702.
-
(1999)
Curr Biol
, vol.9
, pp. 699-702
-
-
Riballo, E.1
Critchlow, S.E.2
Teo, S.H.3
-
12
-
-
18244362081
-
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
-
O'Driscoll M, Cerosaletti KM, Girard PM, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 2001; 6:1175-1185.
-
(2001)
Mol Cell
, vol.6
, pp. 1175-1185
-
-
O'Driscoll, M.1
Cerosaletti, K.M.2
Girard, P.M.3
-
13
-
-
0035917489
-
Artemis, a novel DNA doublestrand break repair/V(D) J recombination protein, is mutated in human severe combined immune deficiency
-
Moshous D, Callebaut I, de Chasseval R, et al. Artemis, a novel DNA doublestrand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001; 105:177-186.
-
(2001)
Cell
, vol.105
, pp. 177-186
-
-
Moshous, D.1
Callebaut, I.2
De Chasseval, R.3
-
14
-
-
31044432090
-
XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining
-
Ahnesorg P, Smith P, Jackson SP. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell 2006; 27:301-313.
-
(2006)
Cell
, vol.27
, pp. 301-313
-
-
Ahnesorg, P.1
Smith, P.2
Jackson, S.P.3
-
15
-
-
31044440630
-
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
-
Buck D, Malivert L, de Chasseval R, et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 2006; 27:287-299.
-
(2006)
Cell
, vol.27
, pp. 287-299
-
-
Buck, D.1
Malivert, L.2
De Chasseval, R.3
-
16
-
-
36749029369
-
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling
-
Stewart GS, Stankovic T, Byrd PJ, et al. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci U S A 2007; 104:16910-16915.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 16910-16915
-
-
Stewart, G.S.1
Stankovic, T.2
Byrd, P.J.3
-
17
-
-
59049091728
-
RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins
-
Doil C, Mailand N, Bekker-Jensen S, et al. RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins. Cell 2009; 6:435-446.
-
(2009)
Cell
, vol.6
, pp. 435-446
-
-
Doil, C.1
Mailand, N.2
Bekker-Jensen, S.3
-
18
-
-
59049103900
-
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage
-
Stewart GS, Panier S, Townsend K, et al. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell 2009; 6:420-434.
-
(2009)
Cell
, vol.6
, pp. 420-434
-
-
Stewart, G.S.1
Panier, S.2
Townsend, K.3
-
19
-
-
65149095154
-
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder
-
Waltes R, Kalb R, Gatei M, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 2009; 5:605-616.
-
(2009)
Am J Hum Genet
, vol.5
, pp. 605-616
-
-
Waltes, R.1
Kalb, R.2
Gatei, M.3
-
20
-
-
61749104245
-
A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining
-
van der Burg M, Ijspeert H, Verkaik NS, et al. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest 2009; 119:91-98.
-
(2009)
J Clin Invest
, vol.119
, pp. 91-98
-
-
Van Der Burg, M.1
Ijspeert, H.2
Verkaik, N.S.3
-
21
-
-
35348815520
-
Immunodeficiency, radiosensitivity, and the XCIND syndrome
-
Gatti RA, Boder E, Good RA. Immunodeficiency, radiosensitivity, and the XCIND syndrome. Immunol Res 2007; 38:87-101.
-
(2007)
Immunol Res
, vol.38
, pp. 87-101
-
-
Gatti, R.A.1
Boder, E.2
Good, R.A.3
-
22
-
-
0026019344
-
Extensive 3'-overhanging, single-stranded DNA associated with the meiosis-specific double-strand breaks at the ARG4 recombination initiation site
-
79
-
Sun H, Treco D, Szostak JW. Extensive 3'-overhanging, single-stranded DNA associated with the meiosis-specific double-strand breaks at the ARG4 recombination initiation site. Cell 1991; 64:1155-1161; 79.
-
(1991)
Cell
, vol.64
, pp. 1155-1161
-
-
Sun, H.1
Treco, D.2
Szostak, J.W.3
-
23
-
-
0025020278
-
Intermediates of recombination during mating type switching in Saccharomyces cerevisiae
-
White CI, Haber JE. Intermediates of recombination during mating type switching in Saccharomyces cerevisiae. EMBO J 1990; 9:663-673.
-
(1990)
EMBO J
, vol.9
, pp. 663-673
-
-
White, C.I.1
Haber, J.E.2
-
24
-
-
0034641963
-
Defying death after DNA damage
-
Rich T, Allen RL, Wyllie AH. Defying death after DNA damage. Nature 2000; 407:777-783.
-
(2000)
Nature
, vol.407
, pp. 777-783
-
-
Rich, T.1
Allen, R.L.2
Wyllie, A.H.3
-
25
-
-
33646181086
-
Mechanism and control of V(D) J recombination at the immunoglobulin heavy chain locus
-
Jung D, Giallourakis C, Mostoslavsky R, et al. Mechanism and control of V(D)J recombination at the immunoglobulin heavy chain locus. Annu Rev Immunol 2006; 24:541-570.
-
(2006)
Annu Rev Immunol
, vol.24
, pp. 541-570
-
-
Jung, D.1
Giallourakis, C.2
Mostoslavsky, R.3
-
26
-
-
0942268167
-
Repair of DNA double strand breaks by nonhomologous end joining
-
Lees-Miller SP, Meek K. Repair of DNA double strand breaks by nonhomologous end joining. Biochimie 2003; 85:1161-1173.
-
(2003)
Biochimie
, vol.85
, pp. 1161-1173
-
-
Lees-Miller, S.P.1
Meek, K.2
-
27
-
-
4544362838
-
The mechanism of nonhomologous end-joining: A synopsis of synapsis
-
(Amst)
-
Weterings E, van Gent DC. The mechanism of nonhomologous end-joining: a synopsis of synapsis. DNA Repair (Amst) 2004; 3:1425-1435.
-
(2004)
DNA Repair
, vol.3
, pp. 1425-1435
-
-
Weterings, E.1
Van Gent, D.C.2
-
28
-
-
34548759123
-
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
-
Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 2007; 8:735-748.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 735-748
-
-
Wang, W.1
-
30
-
-
34247110291
-
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair
-
Smogorzewska A, Matsuoka S, Vinciguerra P, et al. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell 2007; 129:289-301.
-
(2007)
Cell
, vol.129
, pp. 289-301
-
-
Smogorzewska, A.1
Matsuoka, S.2
Vinciguerra, P.3
-
31
-
-
0024205754
-
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
-
Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988; 336:577-580.
-
(1988)
Nature
, vol.336
, pp. 577-580
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
-
32
-
-
0026000309
-
Assessment of chronic gamma radiosensitivity as an in vitro assay for heterozygote identification of ataxiatelangiectasia
-
Weeks DE, Paterson MC, Lange K, et al. Assessment of chronic gamma radiosensitivity as an in vitro assay for heterozygote identification of ataxiatelangiectasia. Radiat Res 1991; 128:90-99.
-
(1991)
Radiat Res
, vol.128
, pp. 90-99
-
-
Weeks, D.E.1
Paterson, M.C.2
Lange, K.3
-
33
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad 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
Gilad, S.3
-
34
-
-
67651125091
-
Clinical radiation sensitivity with DNA repair disorders: An overview
-
Review
-
Pollard JM, Gatti RA. Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys 2009; 74:1323-1331; Review.
-
(2009)
Int J Radiat Oncol Biol Phys
, vol.74
, pp. 1323-1331
-
-
Pollard, J.M.1
Gatti, R.A.2
-
35
-
-
34447093903
-
ATM prevents the persistence and propagation of chromosome breaks in lymphocytes
-
Callen E, Jankovic M, Difilippantonio S, et al. ATM prevents the persistence and propagation of chromosome breaks in lymphocytes. Cell 2007; 130:63-75.
-
(2007)
Cell
, vol.130
, pp. 63-75
-
-
Callen, E.1
Jankovic, M.2
Difilippantonio, S.3
-
36
-
-
30344463835
-
ATM-and cell cycle-dependent regulation of ATR in response to DNA double strand breaks
-
Jazayeri A, Falck J, Lukas C, et al. ATM-and cell cycle-dependent regulation of ATR in response to DNA double strand breaks. Nat Cell Biol 2006; 8:37-45.
-
(2006)
Nat Cell Biol
, vol.8
, pp. 37-45
-
-
Jazayeri, A.1
Falck, J.2
Lukas, C.3
-
37
-
-
33747097562
-
ATM stabilizes DNA doublestrand-break complexes during V(D) J recombination
-
Bredemeyer AL, Sharma GG, Huang CY, et al. ATM stabilizes DNA doublestrand-break complexes during V(D)J recombination. Nature 2006; 442:466-470.
-
(2006)
Nature
, vol.442
, pp. 466-470
-
-
Bredemeyer, A.L.1
Sharma, G.G.2
Huang, C.Y.3
-
38
-
-
0024461719
-
Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia
-
Kojis TL, Schreck RR, Gatti RA, Sparkes RS. Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Hum Genet 1989; 83:347-352.
-
(1989)
Hum Genet
, vol.83
, pp. 347-352
-
-
Kojis, T.L.1
Schreck, R.R.2
Gatti, R.A.3
Sparkes, R.S.4
-
39
-
-
60049083261
-
Nonhomologous end joining in class switch recombination: The beginning of the end
-
Kotnis A, Du L, Liu C, et al. Nonhomologous end joining in class switch recombination: the beginning of the end. Philos Trans R Soc Lond B Biol Sci 2009; 364:653-665.
-
(2009)
Philos Trans R Soc Lond B Biol Sci
, vol.364
, pp. 653-665
-
-
Kotnis, A.1
Du, L.2
Liu, C.3
-
40
-
-
34249058024
-
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
-
Péron S, Pan-Hammarström Q, Imai K, et al. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med 2007; 204:1207-1216.
-
(2007)
J Exp Med
, vol.204
, pp. 1207-1216
-
-
Péron, S.1
Pan-Hammarström, Q.2
Imai, K.3
-
41
-
-
33646117239
-
Spatial organization of the mammalian genome surveillance machinery in response to DNA strand breaks
-
Bekker-Jensen S, Lukas C, Kitagawa R, F et al. Spatial organization of the mammalian genome surveillance machinery in response to DNA strand breaks. J Cell Biol 2006; 173:195-206.
-
(2006)
J Cell Biol
, vol.173
, pp. 195-206
-
-
Bekker-Jensen, S.1
Lukas, C.2
Kitagawa, R.F.3
-
42
-
-
0008158443
-
Radiosensitivity in ataxia-telangiectasia: A new explanation
-
Painter RB, Young BR. Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci 1980; 77:7315-7317.
-
(1980)
Proc Natl Acad Sci
, vol.77
, pp. 7315-7317
-
-
Painter, R.B.1
Young, B.R.2
-
43
-
-
45949109186
-
Gamma-H2AX: A novel biomarker for DNA double-strand breaks
-
Kuo LJ, Yang LX. Gamma-H2AX: a novel biomarker for DNA double-strand breaks. In Vivo 2008; 22:305-309.
-
(2008)
In Vivo
, vol.22
, pp. 305-309
-
-
Kuo, L.J.1
Yang, L.X.2
-
44
-
-
44949093617
-
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia
-
Porcedda P, Turinetto V, Brusco A, et al. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry A 2008; 73:508-516.
-
(2008)
Cytometry A
, vol.73
, pp. 508-516
-
-
Porcedda, P.1
Turinetto, V.2
Brusco, A.3
-
45
-
-
11244277456
-
Backup pathways of NHEJ are suppressed by DNA-PK
-
Perrault R, Wang H, Wang M, et al. Backup pathways of NHEJ are suppressed by DNA-PK. J Cell Biochem 2004; 92:781-794.
-
(2004)
J Cell Biochem
, vol.92
, pp. 781-794
-
-
Perrault, R.1
Wang, H.2
Wang, M.3
-
46
-
-
37549006429
-
Repair of radiation induced DNA double strand breaks by backup NHEJ is enhanced in G2
-
(Amst)
-
Wu W, Wang M, Wu W, et al. Repair of radiation induced DNA double strand breaks by backup NHEJ is enhanced in G2. DNA Repair (Amst) 2008; 7:329-338.
-
(2008)
DNA Repair
, vol.7
, pp. 329-338
-
-
Wu, W.1
Wang, M.2
Wu, W.3
-
47
-
-
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
-
48
-
-
0002581350
-
Genetics and epidemiology of ataxia-telangiectasia
-
Gatti RA, Swift M, editors. New York: Alan R. Liss, Inc
-
Swift M. Genetics and epidemiology of ataxia-telangiectasia. In: Gatti RA, Swift M, editors. Ataxia-telangiectasia. Genetics, neuropathology, and immunology of a degenerative disease of childhood. New York: Alan R. Liss, Inc; 1985. pp. 133-144.
-
(1985)
Ataxia-telangiectasia. Genetics, Neuropathology, and Immunology of A Degenerative Disease of Childhood
, pp. 133-144
-
-
Swift, M.1
-
49
-
-
60149094025
-
Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation
-
Honda M, Takagi M, Chessa L, et al. Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. Leukemia 2009; 23:409-414.
-
(2009)
Leukemia
, vol.23
, pp. 409-414
-
-
Honda, M.1
Takagi, M.2
Chessa, L.3
-
50
-
-
12744273401
-
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
-
Fernet M, Gribaa M, Salih MA, et al. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 2005; 14:307-318.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 307-318
-
-
Fernet, M.1
Gribaa, M.2
Salih, M.A.3
-
51
-
-
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
-
52
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
Lai CH, Chun HH, Nahas SA, et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A 2004; 101:15676-15681.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15676-15681
-
-
Lai, C.H.1
Chun, H.H.2
Nahas, S.A.3
-
53
-
-
70350448984
-
Nonaminoglycoside compounds induce readthrough of nonsense mutations
-
(in press)
-
Du L, Damoiseaux, R, Nahas SA, et al. Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med 2009 (in press).
-
(2009)
J Exp Med
-
-
Du, L.1
Damoiseaux, R.2
Nahas, S.A.3
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