-
1
-
-
24344461251
-
A patient with mutations in DNA ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
-
Ben-Omram TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. 2005. A patient with mutations in DNA ligase IV: Clinical features and overlap with Nijmegen breakage syndrome. Am J Med Genet Part A 137A:283-287.
-
(2005)
Am J Med Genet
, vol.137 A
, Issue.PART A
, pp. 283-287
-
-
Ben-Omram, T.I.1
Cerosaletti, K.2
Concannon, P.3
Weitzman, S.4
Nezarati, M.M.5
-
2
-
-
30944455282
-
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV
-
Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M, Fischer A, Casanova JL, Lieber MR, de Villartay JP. 2006. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol 36:224-235.
-
(2006)
Eur J Immunol
, vol.36
, pp. 224-235
-
-
Buck, D.1
Moshous, D.2
de Chasseval, R.3
Ma, Y.4
le Deist, F.5
Cavazzana-Calvo, M.6
Fischer, A.7
Casanova, J.L.8
Lieber, M.R.9
de Villartay, J.P.10
-
3
-
-
33645785057
-
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV
-
Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S. 2006. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol 176:5060-5068.
-
(2006)
J Immunol
, vol.176
, pp. 5060-5068
-
-
Enders, A.1
Fisch, P.2
Schwarz, K.3
Duffner, U.4
Pannicke, U.5
Nikolopoulos, E.6
Peters, A.7
Orlowska-Volk, M.8
Schindler, D.9
Friedrich, W.10
Selle, B.11
Niemeyer, C.12
Ehl, S.13
-
4
-
-
0033634973
-
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via p53 pathway
-
Frank KM, Sharpless NE, Gao Y, Sekiguchi JM, Ferguson DO, Zhu C, Manis JP, Horner J, DePinho RA, Alt FW. 2000. DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via p53 pathway. Mol Cell 5:993-1002.
-
(2000)
Mol Cell
, vol.5
, pp. 993-1002
-
-
Frank, K.M.1
Sharpless, N.E.2
Gao, Y.3
Sekiguchi, J.M.4
Ferguson, D.O.5
Zhu, C.6
Manis, J.P.7
Horner, J.8
DePinho, R.A.9
Alt, F.W.10
-
5
-
-
0036606622
-
Effect of germ-line genetic variation on breast cancer survival in a population-based study
-
Goode EL, Dunning AM, Kuschel B, Healey CS, Day NE, Ponder BA, Easton DF, Pharoah PP. 2002. Effect of germ-line genetic variation on breast cancer survival in a population-based study. Cancer Res 62:3052-3057.
-
(2002)
Cancer Res
, vol.62
, pp. 3052-3057
-
-
Goode, E.L.1
Dunning, A.M.2
Kuschel, B.3
Healey, C.S.4
Day, N.E.5
Ponder, B.A.6
Easton, D.F.7
Pharoah, P.P.8
-
6
-
-
0032537803
-
DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains
-
Grawunder U, Zimmer D, Leiber MR. 1998. DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains. Curr Biol 8:873-876.
-
(1998)
Curr Biol
, vol.8
, pp. 873-876
-
-
Grawunder, U.1
Zimmer, D.2
Leiber, M.R.3
-
7
-
-
18244362081
-
DNA ligase IV mutation identified in patients exhibiting developmental delay and immunodeficiency
-
O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P. 2001. DNA ligase IV mutation identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 8:1175-1185.
-
(2001)
Mol Cell
, vol.8
, pp. 1175-1185
-
-
O'Driscoll, M.1
Cerosaletti, K.M.2
Girard, P.M.3
Dai, Y.4
Stumm, M.5
Kysela, B.6
Hirsch, B.7
Gennery, A.8
Palmer, S.E.9
Seidel, J.10
Gatti, R.A.11
Varon, R.12
Oettinger, M.A.13
Neitzel, H.14
Jeggo, P.A.15
Concannon, P.16
-
8
-
-
0034131028
-
A review of Epstein-Barr virus infection in patients with immunodeficiency disorders
-
Okano M, Gross TG. 2000. A review of Epstein-Barr virus infection in patients with immunodeficiency disorders. Am J Med Sci 319:392-396.
-
(2000)
Am J Med Sci
, vol.319
, pp. 392-396
-
-
Okano, M.1
Gross, T.G.2
-
9
-
-
0033166623
-
Identification of a defect in DNA ligase IV in a radio sensitive leukemia patient
-
Riballo E, Critchlow SE, Teo S-H, Doherty AJ, Priestley A, Broughton B, Kysela B, Beamish H, Plowman N, Arlett CF, Lehmann AR, Jackson SP, Jeggo PA. 1999. Identification of a defect in DNA ligase IV in a radio sensitive leukemia patient. Curr Biol 9:699-702.
-
(1999)
Curr Biol
, vol.9
, pp. 699-702
-
-
Riballo, E.1
Critchlow, S.E.2
Teo, S.-H.3
Doherty, A.J.4
Priestley, A.5
Broughton, B.6
Kysela, B.7
Beamish, H.8
Plowman, N.9
Arlett, C.F.10
Lehmann, A.R.11
Jackson, S.P.12
Jeggo, P.A.13
-
10
-
-
0036909535
-
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumor characterised by aberrant class switch recombination
-
Roddam PL, Rollinson S, O'Driscoll M, Jeggo PA, Jack A, Morgan GJ. 2002, Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumor characterised by aberrant class switch recombination. J Med Genet 39:900-905.
-
(2002)
J Med Genet
, vol.39
, pp. 900-905
-
-
Roddam, P.L.1
Rollinson, S.2
O'Driscoll, M.3
Jeggo, P.A.4
Jack, A.5
Morgan, G.J.6
-
11
-
-
31044446450
-
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
-
van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. 2006. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest 116:137-145.
-
(2006)
J Clin Invest
, vol.116
, pp. 137-145
-
-
van der Burg, M.1
van Veelen, L.R.2
Verkaik, N.S.3
Wiegant, W.W.4
Hartwig, N.G.5
Barendregt, B.H.6
Brugmans, L.7
Raams, A.8
Jaspers, N.G.9
Zdzienicka, M.Z.10
van Dongen, J.J.11
van Gent, D.C.12
-
12
-
-
0026559505
-
Detection and localization of Epstein-Barr viral genomes in angioimmunoblastic lymphadenopathy and angioimmunoblastic lymphadenopathy-like lymphoma
-
Weiss LM, Jaffe ES, Liu XF, Chen YY, Shibata D, Medeiros LJ. 1992. Detection and localization of Epstein-Barr viral genomes in angioimmunoblastic lymphadenopathy and angioimmunoblastic lymphadenopathy-like lymphoma. Blood 79:1789-1795.
-
(1992)
Blood
, vol.79
, pp. 1789-1795
-
-
Weiss, L.M.1
Jaffe, E.S.2
Liu, X.F.3
Chen, Y.Y.4
Shibata, D.5
Medeiros, L.J.6
-
13
-
-
0029024927
-
Molecular cloning and expression of human cDNA encoding a novel DNA ligase IV and DNA ligase III, as enzyme active in DNA repair and recombination
-
Wei YF, Robins P, Carter K, Caldecott K, Pappin DJC, Yu GL, Wang RP, Shell BK, Nash RA, Schar P, Barnes DE, Haseltine WA, Lindahl T. 1995. Molecular cloning and expression of human cDNA encoding a novel DNA ligase IV and DNA ligase III, as enzyme active in DNA repair and recombination. Mol Cell Biol 15:3206-3216.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 3206-3216
-
-
Wei, Y.F.1
Robins, P.2
Carter, K.3
Caldecott, K.4
Pappin, D.J.C.5
Yu, G.L.6
Wang, R.P.7
Shell, B.K.8
Nash, R.A.9
Schar, P.10
Barnes, D.E.11
Haseltine, W.A.12
Lindahl, T.13
-
14
-
-
0035871931
-
Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl: A new syndrome?
-
Yamada M, Matsuura S, Tsukahara M, Ebe K, Ohtsu M, Furuta H, Kobayashi I, Kawamura N, Okano M, Shouji R, Kobayashi K. 2001. Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl: A new syndrome? Am J Med Genet 100:9-12.
-
(2001)
Am J Med Genet
, vol.100
, pp. 9-12
-
-
Yamada, M.1
Matsuura, S.2
Tsukahara, M.3
Ebe, K.4
Ohtsu, M.5
Furuta, H.6
Kobayashi, I.7
Kawamura, N.8
Okano, M.9
Shouji, R.10
Kobayashi, K.11
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