-
1
-
-
0032792820
-
Determination of the frequency of the common 657del5 Nijmegen breakage syndrome mutation in the German population: No association with risk of breast cancer
-
Carlomagno F, Chang-Claude J, Dunning AM, Ponder BAJ. 1999. Determination of the frequency of the common 657del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. Genes Chromosomes Cancer 25:393-395.
-
(1999)
Genes Chromosomes Cancer
, vol.25
, pp. 393-395
-
-
Carlomagno, F.1
Chang-Claude, J.2
Dunning, A.M.3
Ponder, B.A.J.4
-
2
-
-
0032076248
-
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
-
Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR, Hays L, Morgan WF, Petrini JHJ. 1998. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93:477-486.
-
(1998)
Cell
, vol.93
, pp. 477-486
-
-
Carney, J.P.1
Maser, R.S.2
Olivares, H.3
Davis, E.M.4
Le Beau, M.5
Yates, J.R.6
Hays, L.7
Morgan, W.F.8
Petrini, J.H.J.9
-
3
-
-
0032231476
-
Fine localization of the Nijmegen breakage syndrome gene at 8q21: Evidence for a common founder haplotype
-
Cerosaletti KM, Lange E, Stringham HM, Weemaes CMR, Smeets D, Sölder B, Belohradsky BH, Taylor AMR, Karnes P, Elliott A, Komatsu K, Gatti RA, Boehnke M, Concannon P. 1998. Fine localization of the Nijmegen breakage syndrome gene at 8q21: evidence for a common founder haplotype. Am J Hum Genet 63:125-134.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 125-134
-
-
Cerosaletti, K.M.1
Lange, E.2
Stringham, H.M.3
Weemaes, C.M.R.4
Smeets, D.5
Sölder, B.6
Belohradsky, B.H.7
Taylor, A.M.R.8
Karnes, P.9
Elliott, A.10
Komatsu, K.11
Gatti, R.A.12
Boehnke, M.13
Concannon, P.14
-
4
-
-
0022479925
-
A chromosomal breakage syndrome with profound immunodeficiency
-
Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW. 1986. A chromosomal breakage syndrome with profound immunodeficiency. Blood 67:1251-1256.
-
(1986)
Blood
, vol.67
, pp. 1251-1256
-
-
Conley, M.E.1
Spinner, N.B.2
Emanuel, B.S.3
Nowell, P.C.4
Nichols, W.W.5
-
5
-
-
0029839717
-
Possible new variant of Nijmegen breakage syndrome
-
Der Kaloustian V, Kleijer W, Booth A, Auerbach AD, Mazer B, Elliot AM, Abish S, Usher R, Watters G, Vekemans M, Eydoux P. 1996. Possible new variant of Nijmegen breakage syndrome. Am J Med Genet 65:21-26.
-
(1996)
Am J Med Genet
, vol.65
, pp. 21-26
-
-
Der Kaloustian, V.1
Kleijer, W.2
Booth, A.3
Auerbach, A.D.4
Mazer, B.5
Elliot, A.M.6
Abish, S.7
Usher, R.8
Watters, G.9
Vekemans, M.10
Eydoux, P.11
-
6
-
-
0034106722
-
ATM-dependent phosphorylation of nibrin in response to radiation exposure
-
Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna KK. 2000. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 25:115-119.
-
(2000)
Nat Genet
, vol.25
, pp. 115-119
-
-
Gatei, M.1
Young, D.2
Cerosaletti, K.M.3
Desai-Mehta, A.4
Spring, K.5
Kozlov, S.6
Lavin, M.F.7
Gatti, R.A.8
Concannon, P.9
Khanna, K.K.10
-
7
-
-
0033380655
-
Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations
-
Gatti RA, Tward A, Concannon P. 1999. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab 68:419-423.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 419-423
-
-
Gatti, R.A.1
Tward, A.2
Concannon, P.3
-
8
-
-
0033869097
-
Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients
-
Hama S, Matsuura S, Tauchi H, Sawada J, Kato C, Yamasaki F, Yoshioka H, Sugiyama K, Arita K, Kurisu K, Kamada N, Heike Y, Komatsu K. 2000. Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients. Anticancer Res 20:1897-1900.
-
(2000)
Anticancer Res
, vol.20
, pp. 1897-1900
-
-
Hama, S.1
Matsuura, S.2
Tauchi, H.3
Sawada, J.4
Kato, C.5
Yamasaki, F.6
Yoshioka, H.7
Sugiyama, K.8
Arita, K.9
Kurisu, K.10
Kamada, N.11
Heike, Y.12
Komatsu, K.13
-
9
-
-
0000770165
-
Nijmegen breakage syndrome
-
International Nijmegen Breakage Syndrome (NBS) Study Group. 2000. Nijmegen breakage syndrome. Arch Dis Child 82:400-406.
-
(2000)
Arch Dis Child
, vol.82
, pp. 400-406
-
-
-
10
-
-
0034611728
-
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
-
Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JHJ, Kastan MB. 2000. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404:613-617.
-
(2000)
Nature
, vol.404
, pp. 613-617
-
-
Lim, D.S.1
Kim, S.T.2
Xu, B.3
Maser, R.S.4
Lin, J.5
Petrini, J.H.J.6
Kastan, M.B.7
-
11
-
-
17344372572
-
Positional cloning of the gene for Nijmegen breakage syndrome
-
Matsuura S, Tauchi H, Nakamura A, Kondo N, Sakamoto S, Endo S, Smeets D, Solder B, Belohradsky BH, Der Kaloustian VM, Oshimura M, Isomura M, Nakamura Y, Komatsu K. 1998. Positional cloning of the gene for Nijmegen breakage syndrome. Nat Genet 19:179-181.
-
(1998)
Nat Genet
, vol.19
, pp. 179-181
-
-
Matsuura, S.1
Tauchi, H.2
Nakamura, A.3
Kondo, N.4
Sakamoto, S.5
Endo, S.6
Smeets, D.7
Solder, B.8
Belohradsky, B.H.9
Der Kaloustian, V.M.10
Oshimura, M.11
Isomura, M.12
Nakamura, Y.13
Komatsu, K.14
-
12
-
-
0036215992
-
Nijmegen breakage syndrome: Clinical characteristics and mutation analysis in 8 unrelated Russian families
-
Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA, Concannon P. 2002. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in 8 unrelated Russian families. J Pediat 140:355-361.
-
(2002)
J Pediat
, vol.140
, pp. 355-361
-
-
Resnick, I.B.1
Kondratenko, I.2
Togoev, O.3
Vasserman, N.4
Shagina, I.5
Evgrafov, O.6
Tverskaya, S.7
Cerosaletti, K.M.8
Gatti, R.A.9
Concannon, P.10
-
13
-
-
0033902941
-
The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T non-Hodgkin lymphoma in a pediatric population
-
Rischewski J, Bismarck PV, Kabisch H, Janka-Schaub G, Obser T, Schneppenheim R. 2000. The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T non-Hodgkin lymphoma in a pediatric population. Leukemia 14:1528-1529.
-
(2000)
Leukemia
, vol.14
, pp. 1528-1529
-
-
Rischewski, J.1
Bismarck, P.V.2
Kabisch, H.3
Janka-Schaub, G.4
Obser, T.5
Schneppenheim, R.6
-
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, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, 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
Patanjali, S.R.15
Simmons, A.16
Clines, G.A.17
Sartiel, A.18
Gatti, R.A.19
Chessa, L.20
Sanal, O.21
Lavin, M.F.22
Jaspers, N.G.J.23
Taylor, A.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..
-
15
-
-
0033566329
-
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia
-
Schaffner C, Stilgenbauer S, Rappold GA, Dohner H, Lichter P. 1999. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. Blood 94:748-753.
-
(1999)
Blood
, vol.94
, pp. 748-753
-
-
Schaffner, C.1
Stilgenbauer, S.2
Rappold, G.A.3
Dohner, H.4
Lichter, P.5
-
16
-
-
0034646371
-
Mantle cell lymphoma is characterized by inactivation of the ATM gene
-
Schaffner C, Idler I, Stilgenbauer S, Dohner H, Lichter P. 2000. Mantle cell lymphoma is characterized by inactivation of the ATM gene. Proc Natl Acad Sci USA 97:2773-2778.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 2773-2778
-
-
Schaffner, C.1
Idler, I.2
Stilgenbauer, S.3
Dohner, H.4
Lichter, P.5
-
17
-
-
0025268280
-
An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
-
Seemanova E. 1990. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Murat Res 238:321-324.
-
(1990)
Murat Res
, vol.238
, pp. 321-324
-
-
Seemanova, E.1
-
18
-
-
0033994079
-
Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials
-
Seidemann K, Henze G, Beck JD, Sauerbrey A, Kuhl J, Mann G, Reiter A. 2000. Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials. Ann Oncol 11:S141-S145.
-
(2000)
Ann Oncol
, vol.11
-
-
Seidemann, K.1
Henze, G.2
Beck, J.D.3
Sauerbrey, A.4
Kuhl, J.5
Mann, G.6
Reiter, A.7
-
19
-
-
0031466618
-
Ataxia-telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart
-
Shiloh Y. 1997. Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annu Rev Genet 31:635-662.
-
(1997)
Annu Rev Genet
, vol.31
, pp. 635-662
-
-
Shiloh, Y.1
-
20
-
-
0033513587
-
Inactivation of ataxia-telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia
-
Stankovic T, Weber P, Stewart G, Bedenham T, Murray J, Byrd PJ, Moss PAH, Taylor AM. 1999. Inactivation of ataxia-telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia. Lancet 353:26-29.
-
(1999)
Lancet
, vol.353
, pp. 26-29
-
-
Stankovic, T.1
Weber, P.2
Stewart, G.3
Bedenham, T.4
Murray, J.5
Byrd, P.J.6
Moss, P.A.H.7
Taylor, A.M.8
-
21
-
-
0034085362
-
No evidence for a major role ofheterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
-
Stanulla M, Stumm M, Dieckvoss B-O, Seidemann K, Schemmel V, Brechlin AM, Schrappe M, Welte K, Reiter A. 2000. No evidence for a major role ofheterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence. Br J Haematol 109:117-120.
-
(2000)
Br J Haematol
, vol.109
, pp. 117-120
-
-
Stanulla, M.1
Stumm, M.2
Dieckvoss, B.-O.3
Seidemann, K.4
Schemmel, V.5
Brechlin, A.M.6
Schrappe, M.7
Welte, K.8
Reiter, A.9
-
22
-
-
17744419841
-
The ATM gene in the pathogenesis of mantle-cell lymphoma
-
Stilgenbauer S, Schaffner C, Winkler D, Ott G, Leupolt E, Bentz M, Moiler P, Muller-Hermelink HK, James MR, Lichter P, Dohner H. 2000. The ATM gene in the pathogenesis of mantle-cell lymphoma. Ann Oncol 11:S127-S130
-
(2000)
Ann Oncol
, vol.11
-
-
Stilgenbauer, S.1
Schaffner, C.2
Winkler, D.3
Ott, G.4
Leupolt, E.5
Bentz, M.6
Moiler, P.7
Muller-Hermelink, H.K.8
James, M.R.9
Lichter, P.10
Dohner, H.11
-
23
-
-
0032525111
-
Inactivation of the ATM gene in the T-cell prolymphocytic leukemias
-
Stoppa-Lyonnet D, Soulier J, Lauge A, Dastot H, Garand R, Sigaux F, Stern MH. 1998. Inactivation of the ATM gene in the T-cell prolymphocytic leukemias. Blood 91:3920-3926.
-
(1998)
Blood
, vol.91
, pp. 3920-3926
-
-
Stoppa-Lyonnet, D.1
Soulier, J.2
Lauge, A.3
Dastot, H.4
Garand, R.5
Sigaux, F.6
Stern, M.H.7
-
24
-
-
0034235318
-
No germline ATM mutation in a series of 16 T-cell prolymphocytic leukemias
-
Stoppa-Lyonnet D, Lauge A, Sigaux F, Stern MH. 2000. No germline ATM mutation in a series of 16 T-cell prolymphocytic leukemias. Blood 96:374-376.
-
(2000)
Blood
, vol.96
, pp. 374-376
-
-
Stoppa-Lyonnet, D.1
Lauge, A.2
Sigaux, F.3
Stern, M.H.4
-
25
-
-
0035306631
-
No evidence for deletions of the NBS1 gene in lymphomas
-
Stumm M, von Ruskowsky A, Siebert R, Harder S, Varon R, Wieacker P, Schlegelberger B. 2001. No evidence for deletions of the NBS1 gene in lymphomas. Cancer Genet Cytogenet 126:60-62.
-
(2001)
Cancer Genet Cytogenet
, vol.126
, pp. 60-62
-
-
Stumm, M.1
Von Ruskowsky, A.2
Siebert, R.3
Harder, S.4
Varon, R.5
Wieacker, P.6
Schlegelberger, B.7
-
26
-
-
0032785839
-
Regulated genomic instability and neoplasia in the lymphoid lineage
-
Vanasse GJ, Concannon P, Willerford DM. 1999. Regulated genomic instability and neoplasia in the lymphoid lineage. Blood 94:3997-4010.
-
(1999)
Blood
, vol.94
, pp. 3997-4010
-
-
Vanasse, G.J.1
Concannon, P.2
Willerford, D.M.3
-
27
-
-
0032076190
-
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
-
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CMR, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-476.
-
(1998)
Cell
, vol.93
, pp. 467-476
-
-
Varon, R.1
Vissinga, C.2
Platzer, M.3
Cerosaletti, K.M.4
Chrzanowska, K.H.5
Saar, K.6
Beckmann, G.7
Seemanová, E.8
Cooper, P.R.9
Nowak, N.J.10
Stumm, M.11
Weemaes, C.M.R.12
Gatti, R.A.13
Wilson, R.K.14
Digweed, M.15
Rosenthal, A.16
Sperling, K.17
Concannon, P.18
Reis, A.19
-
28
-
-
0035328489
-
Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)
-
Varon R, Reis A, Henze G, Einsiedel HGV, Sperling K, Seeger K. 2001. Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res 61:3570-3572.
-
(2001)
Cancer Res
, vol.61
, pp. 3570-3572
-
-
Varon, R.1
Reis, A.2
Henze, G.3
Einsiedel, H.G.V.4
Sperling, K.5
Seeger, K.6
-
29
-
-
16944367148
-
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia
-
Vorechovsky 1, Luo L, Dyer MJS, Catovsky D, Amlot PL, Yaxley JC, Foroni L, Hammarstrom L, Webster ADB, Yuille MAR. 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
Hammarstrom, L.8
Webster, A.D.B.9
Yuille, M.A.R.10
-
30
-
-
0034713466
-
ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response
-
Wu X, Ranganathan V, Weisman DS, Heine WF, Ciccone DN, O'Neill TB, Crick KE, Pierce KA, Lane WS, Rathbun G, Livingston DM, Weaver DT. 2000. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 405:477-482.
-
(2000)
Nature
, vol.405
, pp. 477-482
-
-
Wu, X.1
Ranganathan, V.2
Weisman, D.S.3
Heine, W.F.4
Ciccone, D.N.5
O'Neill, T.B.6
Crick, K.E.7
Pierce, K.A.8
Lane, W.S.9
Rathbun, G.10
Livingston, D.M.11
Weaver, D.T.12
-
31
-
-
0026755807
-
Whole genome amplification from a single cell: Implications for genetic analysis
-
Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. 1992. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 89:5847-5851.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 5847-5851
-
-
Zhang, L.1
Cui, X.2
Schmitt, K.3
Hubert, R.4
Navidi, W.5
Arnheim, N.6
-
32
-
-
0034713393
-
Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products
-
Zhao S, Weng Weiig YC, Yuan SSF, Lin YT, Hsu HC, Lin SCJ, Gerbino E, Song M, Zdzienicka MZ, Gatti RA, Shay JW, Ziv Y, Shiloh Y, Lee EY. 2000. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 405:473-477.
-
(2000)
Nature
, vol.405
, pp. 473-477
-
-
Zhao, S.1
Weng, Y.C.2
Yuan, S.S.F.3
Lin, Y.T.4
Hsu, H.C.5
Lin, S.C.J.6
Gerbino, E.7
Song, M.8
Zdzienicka, M.Z.9
Gatti, R.A.10
Shay, J.W.11
Ziv, Y.12
Shiloh, Y.13
Lee, E.Y.14
|