-
1
-
-
0038728033
-
Mutational mechanisms of williams-beuren syndrome deletions
-
DOI 10.1086/376565
-
Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA. (2003). Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 73:131-151. (Pubitemid 36793786)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.1
, pp. 131-151
-
-
Bayes, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Perez Jurado, L.A.5
-
2
-
-
35148853561
-
Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer
-
DOI 10.1158/0008-5472.CAN-07-1501
-
Berwick M, Satagopan JM, Ben-Porat L, Carlson A, Mah K, HenryR, Diotti R, Milton K, Pujara K, Landers T, Dev Batish S, Morales J, Schindler D, Hanenberg H, Hromas R, Levran O, Auerbach AD. (2007). Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 67:9591-9596. (Pubitemid 47535951)
-
(2007)
Cancer Research
, vol.67
, Issue.19
, pp. 9591-9596
-
-
Berwick, M.1
Satagopan, J.M.2
Ben-Porat, L.3
Carlson, A.4
Mah, K.5
Henry, R.6
Diotti, R.7
Milton, K.8
Pujara, K.9
Landers, T.10
Batish, S.D.11
Morales, J.12
Schindler, D.13
Hanenberg, H.14
Hromas, R.15
Levran, O.16
Auerbach, A.D.17
-
3
-
-
33646230024
-
Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay
-
Burger S, Schindler D, Fehn M, Muhl B, Mahrhofer H, Flentje M, Hoehn H, Seemanova E, Djuzenova CS. (2006). Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. Environ Mol Mutagen 47:260-270.
-
(2006)
Environ. Mol. Mutagen.
, vol.47
, pp. 260-270
-
-
Burger, S.1
Schindler, D.2
Fehn, M.3
Muhl, B.4
Mahrhofer, H.5
Flentje, M.6
Hoehn, H.7
Seemanova, E.8
Djuzenova, C.S.9
-
4
-
-
0032792820
-
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: No association with risk of breast cancer
-
DOI 10.1002/(SICI)1098-2264(199908)25:4 <393::AID-GCC12> 3.0.CO;2-8
-
Carlomagno F, Chang-Claude J, Dunning AM, Ponder BA. (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. (Pubitemid 29326147)
-
(1999)
Genes Chromosomes and Cancer
, vol.25
, Issue.4
, pp. 393-395
-
-
Carlomagno, F.1
Chang-Claude, J.2
Dunning, A.M.3
Ponder, B.A.J.4
-
5
-
-
0019378276
-
Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia
-
Cervenka J, Arthur D, Yasis C. (1981). Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics 67:119-127. (Pubitemid 11217610)
-
(1981)
Pediatrics
, vol.67
, Issue.1
, pp. 119-127
-
-
Cervenka, J.1
Arthur, D.2
Yasis, C.3
-
6
-
-
33746740154
-
Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype
-
DOI 10.1101/gr.5320706
-
Cheung VG, Ewens WJ. (2006). Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res 16:973-979. (Pubitemid 44162256)
-
(2006)
Genome Research
, vol.16
, Issue.8
, pp. 973-979
-
-
Cheung, V.G.1
Ewens, W.J.2
-
7
-
-
57149112500
-
Chk2-dependent phosphorylation of XRCC1 in the DNA damage response promotes base excision repair
-
Chou WC, Wang HC, Wong FH, Ding SL, Wu PE, Shieh SY, Shen CY. (2008). Chk2-dependent phosphorylation of XRCC1 in the DNA damage response promotes base excision repair. EMBO J 27:3140-3150.
-
(2008)
EMBO J.
, vol.27
, pp. 3140-3150
-
-
Chou, W.C.1
Wang, H.C.2
Wong, F.H.3
Ding, S.L.4
Wu, P.E.5
Shieh, S.Y.6
Shen, C.Y.7
-
8
-
-
0019953568
-
The identification of Fanconi anemia genotypes by clastogenic stress
-
Cohen MM, Simpson SJ, Honig GR, Maurer HS, Nicklas JW, Martin AO. (1982). The identification of fanconi anemia genotypes by clastogenic stress. Am J Hum Genet 34:794-810. (Pubitemid 12032777)
-
(1982)
American Journal of Human Genetics
, vol.34
, Issue.5
, pp. 794-810
-
-
Cohen, M.M.1
Simpson, S.J.2
Honig, G.R.3
-
10
-
-
0028004117
-
In vitro repair of oxidative and ultraviolet-induced DNA damage in supercoiled nucleoid DNA by human cell extract
-
DOI 10.1016/0167-4781(94)90236-4
-
Collins AR, Fleming IM, Gedik CM. (1994). In vitro repair of oxidative and ultraviolet-induced DNA damage in supercoiled nucleoid DNA by human cell extract. Biochim Biophys Acta 1219: 724-727. (Pubitemid 24353395)
-
(1994)
Biochimica et Biophysica Acta - Gene Structure and Expression
, vol.1219
, Issue.3
, pp. 724-727
-
-
Collins, A.R.1
Fleming, I.M.2
Gedik, C.M.3
-
11
-
-
0028987060
-
In vivo accumulation of 8-hydroxy-2'-deoxyguanosine in DNA correlates with release of reactive oxygen species in Fanconi s anaemia families
-
Degan P, Bonassi S, De Caterina M, Korkina LG, Pinto L, Scopacasa F, Zatterale A, Calzone R, Pagano G. (1995). In vivo accumulation of 8-hydroxy-2'-deoxyguanosine in DNA correlates with release of reactive oxygen species in Fanconi s anaemia families. Carcinogenesis 16:735-741.
-
(1995)
Carcinogenesis
, vol.16
, pp. 735-741
-
-
Degan, P.1
Bonassi, S.2
De Caterina, M.3
Korkina, L.G.4
Pinto, L.5
Scopacasa, F.6
Zatterale, A.7
Calzone, R.8
Pagano, G.9
-
12
-
-
45749123993
-
NBS1 heterozygosity and cancer risk
-
DOI 10.2174/138920208784533610
-
Di Masi A, Antoccia A. (2008). NBS1 Heterozygosity and Cancer Risk. Curr Genomics 9:275-281. (Pubitemid 351864253)
-
(2008)
Current Genomics
, vol.9
, Issue.4
, pp. 275-281
-
-
Di Masi, A.1
Antoccia, A.2
-
13
-
-
0034745675
-
Response to x-irradiation of fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay
-
Djuzenova CS, Rothfuss A, Oppitz U, Spelt G, Schindler D, Hoehn H, Flentje M. (2001). Response to X-irradiation of Fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay. Lab Invest 81:185-192. (Pubitemid 32176382)
-
(2001)
Laboratory Investigation
, vol.81
, Issue.2
, pp. 185-192
-
-
Djuzenova, C.S.1
Rothfuss, A.2
Oppitz, U.3
Speit, G.4
Schindler, D.5
Hoehn, H.6
Flentje, M.7
-
14
-
-
1842856143
-
Characterization of Fanconi anemia fibroblasts in terms of clonogenic survival and DNA damage assessed by the Comet assay
-
Djuzenova CS, Flentje M. (2002). Characterization of Fanconi anemia fibroblasts in terms of clonogenic survival and DNA damage assessed by the Comet assay. Med Sci Monit 8:BR421-BR430. (Pubitemid 35257328)
-
(2002)
Medical Science Monitor
, vol.8
, Issue.10
-
-
Djuzenova, C.S.1
Flentje, M.2
-
15
-
-
33845614891
-
ATM mediates oxidative stress-induced dephosphorylation of DNA ligase IIIα
-
DOI 10.1093/nar/gkl705
-
Dong Z, Tomkinson AE. (2006). ATM mediates oxidative stressinduced dephosphorylation of DNA ligase IIIalpha. Nucleic Acids Res 34:5721-5729. (Pubitemid 44941153)
-
(2006)
Nucleic Acids Research
, vol.34
, Issue.20
, pp. 5721-5729
-
-
Dong, Z.1
Tomkinson, A.E.2
-
16
-
-
77958191599
-
ATM activation by oxidative stress
-
Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT. (2010). ATM activation by oxidative stress. Science 330:517-521.
-
(2010)
Science
, vol.330
, pp. 517-521
-
-
Guo, Z.1
Kozlov, S.2
Lavin, M.F.3
Person, M.D.4
Paull, T.T.5
-
17
-
-
0000770165
-
Nijmegen breakage syndrome
-
DOI 10.1136/adc.82.5.400
-
Hiel JA, Weemaes CM, van den Heuvel LP, van Engelen BG,Gabre?ls FJ, Smeets DF, van der Burgt I, Chrzanovska KH, Bernatowska E, Krajewska-Walasek M, Bialecka M, Abramczuk D, Gregorek H, Michalkiewicz J, Perek D, Midro AT, Seemanova E, Belohradsky BH, Solder B, Barbi G, Wegner RD, Sperling K, Dixon J, Maraschio P, Marseglia GL, Green A, Taylor AM, Der Kaloustian VM, Komatsu K, Matsuura S, Conley ME, Concannon P, Gatti RA. (2000). Nijmegen breakage syndrome. Arch Dis Child 82:400-406. (Pubitemid 30307772)
-
(2000)
Archives of Disease in Childhood
, vol.82
, Issue.5
, pp. 400-406
-
-
Hiel, J.A.1
Weemaes, C.M.2
Van Den Heuvel, L.P.3
Van Engelen, B.G.4
Gabreels, F.J.5
Smeets, D.F.6
Van Der Burgt, I.7
Chrzanovska, K.H.8
Bernatowska, E.9
Krajewska-Walasek, M.10
Bialecka, M.11
Abramczuk, D.12
Gregorek, H.13
Michalkiewicz, J.14
Perek, D.15
Midro, A.T.16
Seemanova, E.17
Belohradsky, B.H.18
Solder, B.19
Barbi, G.20
Wegner, R.D.21
Sperling, K.22
Dixon, J.23
Maraschio, P.24
Marseglia, G.L.25
Green, A.26
Taylor, A.M.27
Der Kaloustian, V.M.28
Komatsu, K.29
Matsuura, S.30
Conley, M.E.31
Concannon, P.32
Gatti, R.A.33
more..
-
18
-
-
33845969499
-
Regulation of reactive oxygen species by Atm is essential for proper response to DNA double-strand breaks in lymphocytes
-
Ito K, Takubo K, Arai F, Satoh H, Matsuoka S, Ohmura M, Naka K, Azuma M, Miyamoto K, Hosokawa K, Ikeda Y, Mak TW, Suda T, Hirao A. (2007). Regulation of reactive oxygen species by Atm is essential for proper response to DNA double-strand breaks in lymphocytes. J Immunol 178:103-110. (Pubitemid 46039661)
-
(2007)
Journal of Immunology
, vol.178
, Issue.1
, pp. 103-110
-
-
Ito, K.1
Takubo, K.2
Arai, F.3
Satoh, H.4
Matsuoka, S.5
Ohmura, M.6
Naka, K.7
Azuma, M.8
Miyamoto, K.9
Hosokawa, K.10
Ikeda, Y.11
Mak, T.W.12
Suda, T.13
Hirao, A.14
-
19
-
-
29244442667
-
Fanconi anemia: Current management
-
DOI 10.1080/10245330512331390096
-
Kook H. (2005). Fanconi anemia: current management. Hematology 10 Suppl 1:108-110. (Pubitemid 41825703)
-
(2005)
Hematology
, vol.10
, Issue.SUPPL. 1
, pp. 108-110
-
-
Kook, H.1
-
20
-
-
33646858848
-
Dual role of Nbs1 in the ataxia telangiectasia mutated-dependent DNA damage response
-
Lee JH, Lim DS. (2006). Dual role of Nbs1 in the ataxia telangiectasia mutated-dependent DNA damage response. FEBS J 273:1630-1636.
-
(2006)
FEBS J.
, vol.273
, pp. 1630-1636
-
-
Lee, J.H.1
Lim, D.S.2
-
21
-
-
38049173021
-
Homologous recombination in DNA repair and DNA damage tolerance
-
Li X, Heyer WD. (2008). Homologous recombination in DNA repair and DNA damage tolerance. Cell Res 18:99-113.
-
(2008)
Cell Res.
, vol.18
, pp. 99-113
-
-
Li, X.1
Heyer, W.D.2
-
22
-
-
44049103092
-
Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype
-
DOI 10.1111/j.1469-7610.2008.01887.x
-
Martens MA, Wilson SJ, Reutens DC. (2008). Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry 49:576-608. (Pubitemid 351713313)
-
(2008)
Journal of Child Psychology and Psychiatry and Allied Disciplines
, vol.49
, Issue.6
, pp. 576-608
-
-
Martens, M.A.1
Wilson, S.J.2
Reutens, D.C.3
-
23
-
-
65549114941
-
A systematic proteomic study of irradiated dna repair deficient nbn-mice
-
Melchers A, Stockl L, Radszewski J, Anders M, Krenzlin H, Kalischke C, Scholz R, Jordan A, Nebrich G, Klose J, Sperling K, Digweed M, Demuth I. (2009). A systematic proteomic study of irradiated DNA repair deficient Nbn-mice. PLoS ONE 4:e5423.
-
(2009)
PLoS ONE
, vol.4
-
-
Melchers, A.1
Stockl, L.2
Radszewski, J.3
Anders, M.4
Krenzlin, H.5
Kalischke, C.6
Scholz, R.7
Jordan, A.8
Nebrich, G.9
Klose, J.10
Sperling, K.11
Digweed, M.12
Demuth, I.13
-
24
-
-
39049094697
-
Cytogenetic sensitivity of G0 lymphocytes of Fanconi anemia patients and obligate carriers to mitomycin C and ionizing radiation
-
DOI 10.1159/000112060
-
Mohseni-Meybodi A, Mozdarani H, Vosough P. (2007). Cytogenetic sensitivity of G0 lymphocytes of Fanconi anemia patients and obligate carriers to mitomycin C and ionizing radiation. Cytogenet Genome Res 119:191-195. (Pubitemid 351235050)
-
(2007)
Cytogenetic and Genome Research
, vol.119
, Issue.3-4
, pp. 191-195
-
-
Mohseni-Meybodi, A.1
Mozdarani, H.2
Vosough, P.3
-
25
-
-
65949088834
-
DNA damage in leukocytes from Fanconi anemia (FA) patients and heterozygotes induced by mitomycin C and ionizing radiation as assessed by the comet and comet-FISH assay
-
Mohseni Meybodi A, Mozdarani H. (2009). DNA damage in leukocytes from Fanconi anemia (FA) patients and heterozygotes induced by mitomycin C and ionizing radiation as assessed by the comet and comet-FISH assay. Iran Biomed J 13:1-8.
-
(2009)
Iran Biomed. J.
, vol.13
, pp. 1-8
-
-
Mohseni Meybodi, A.1
Mozdarani, H.2
-
26
-
-
58149130319
-
DNA damage and repair of leukocytes from fanconi anaemia patients, carriers and healthy individuals as measured by the alkaline comet assay
-
Mohseni-Meybodi A, Mozdarani H, Mozdarani S. (2009). DNA damage and repair of leukocytes from Fanconi anaemia patients, carriers and healthy individuals as measured by the alkaline comet assay. Mutagenesis 24:67-73.
-
(2009)
Mutagenesis
, vol.24
, pp. 67-73
-
-
Mohseni-Meybodi, A.1
Mozdarani, H.2
Mozdarani, S.3
-
27
-
-
34347258929
-
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
-
DOI 10.1086/518696
-
O Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. (2007). Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet 81:77-86. (Pubitemid 47001158)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.1
, pp. 77-86
-
-
O'Driscoll, M.1
Dobyns, W.B.2
Van Hagen, J.M.3
Jeggo, P.A.4
-
28
-
-
22444431937
-
Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype
-
DOI 10.1111/j.1600-0609.2005.00507.x
-
Pagano G, Degan P, d Ischia M, Kelly FJ, Nobili B, Pallardo FV, Youssoufian H, Zatterale A. (2005). Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype. Eur J Haematol 75:93-100. (Pubitemid 41008278)
-
(2005)
European Journal of Haematology
, vol.75
, Issue.2
, pp. 93-100
-
-
Pagano, G.1
Degan, P.2
D'Ischia, M.3
Kelly, F.J.4
Nobili, B.5
Pallardo, F.V.6
Youssoufian, H.7
Zatterale, A.8
-
29
-
-
12444257433
-
Fanconi anaemia proteins: Major roles in cell protection against oxidative damage
-
DOI 10.1002/bies.10283
-
Pagano G, Youssoufian H. (2003). Fanconi anaemia proteins: major roles in cell protection against oxidative damage. Bioessays 25:589-595. (Pubitemid 36705510)
-
(2003)
BioEssays
, vol.25
, Issue.6
, pp. 589-595
-
-
Pagano, G.1
Youssoufian, H.2
Anak, S.S.3
Brunk, U.T.4
Calzone, R.5
Clarke, A.A.6
Degan, P.7
D'Ischia, M.8
Dunster, C.9
Giudice, A.10
Iaccarino, M.11
Hirsch-Kauffmann, M.12
Kelly, F.J.13
Lloret, A.14
Malorni, W.15
Manini, P.16
Masella, R.17
Nobili, B.18
Pallardo, F.V.19
Schweiger, M.20
Vuttariello, E.21
Youssoufian, G.22
Zatterale, A.23
more..
-
30
-
-
0035297644
-
Fanconi anemiaa statistical evaluation of cytogenetic results obtained from South African families
-
DOI 10.1016/S0165-4608(00)00388-5, PII S0165460800003885
-
Pearson T, Jansen S, Havenga C, Stones DK, Joubert G. (2001). Fanconi anemia. a statistical evaluation of cytogenetic results obtained from South African families. Cancer Genet Cytogenet 126:52-55. (Pubitemid 32416526)
-
(2001)
Cancer Genetics and Cytogenetics
, vol.126
, Issue.1
, pp. 52-55
-
-
Pearson, T.1
Jansen, S.2
Havenga, C.3
Stones, D.K.4
Joubert, G.5
-
31
-
-
0036188591
-
Bloom syndrome and Fanconi's anemia: Rate and Ethnic origin of mutation carriers in Israel
-
Peleg L, Pesso R, Goldman B, Dotan K, Omer M, Friedman E, Berkenstadt M, Reznik-Wolf H, Barkai G. (2002). Bloom syndrome and Fanconi s anemia: rate and ethnic origin of mutation carriers in Israel. Isr Med Assoc J 4:95-97. (Pubitemid 34193039)
-
(2002)
Israel Medical Association Journal
, vol.4
, Issue.2
, pp. 95-97
-
-
Peleg, L.1
Pesso, R.2
Goldman, B.3
Dotan, K.4
Omer, M.5
Friedman, E.6
Berkenstadt, M.7
Reznik-Wolf, H.8
Barkai, G.9
-
32
-
-
79960984265
-
Cytogenetic analysis of individuals migrated from Gomel region to Minsk
-
in Russian
-
Polityko AD, Egorova TM. (2001). Cytogenetic analysis of individuals migrated from Gomel region to Minsk. Int J Rad Med 3:274 (in Russian
-
(2001)
Int. J. Rad. Med.
, vol.3
, pp. 274
-
-
Polityko, A.D.1
Egorova, T.M.2
-
33
-
-
79960990465
-
Cytogenetic monitoring database: The assessment of the tendencies and dynamics of mutagenesis in children
-
Leipzig Germany. Medizinische Genetik, No3
-
Polityko AD, Egorova TM, Pisarik IV, Khurs OM. (2002). Cytogenetic monitoring database: the assessment of the tendencies and dynamics of mutagenesis in children. Abs of 14th Meeting of the German Society of Human Genetics, Leipzig, Germany. Medizinische Genetik, No3:290.
-
(2002)
Abs of 14th Meeting of the German Society of Human Genetics
, vol.290
-
-
Polityko, A.D.1
Egorova, T.M.2
Pisarik, I.V.3
Khurs, O.M.4
-
35
-
-
0023759650
-
Fanconi s anemia-chromosome breakage studies in homozygotes and heterozygotes
-
Rosendorff J, Bernstein R. (1988). Fanconi s anemia-chromosome breakage studies in homozygotes and heterozygotes. Cancer Genet Cytogenet 33:175-183.
-
(1988)
Cancer Genet Cytogenet
, vol.33
, pp. 175-183
-
-
Rosendorff, J.1
Bernstein, R.2
-
36
-
-
79961011899
-
Chromosomal instability at the 7q11.23 region impacts on dna-damage response in lymphocytes from williams-beuren syndrome patients
-
Savina NV, Smal MP, Kuzhir TD, Egorova TM, Khurs OM, Polityko AD, Goncharova RI. (2011). Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams-Beuren syndrome patients. Mutat Res 724:46-51.
-
(2011)
Mutat. Res.
, vol.724
, pp. 46-51
-
-
Savina, N.V.1
Smal, M.P.2
Kuzhir, T.D.3
Egorova, T.M.4
Khurs, O.M.5
Polityko, A.D.6
Goncharova, R.I.7
-
37
-
-
33144456179
-
Zvýsené riziko malignit u heterozygotu v rodinách pacientu s Nijmegen breakage syndromem
-
Seemanova E, Jarolim P, Seeman P, Varon R, Sperling K. (2006). Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome. Cas Lek Cesk 145:138-143. (Pubitemid 43266532)
-
(2006)
Casopis Lekaru Ceskych
, vol.145
, Issue.2
, pp. 138-143
-
-
Seemanova, E.1
Jarolim, P.2
Seeman, P.3
Varon, R.4
Sperling, K.5
-
38
-
-
63449107365
-
The genomic basis of the Williams-Beuren syndrome
-
Schubert C. (2009). The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 66:1178-1197.
-
(2009)
Cell Mol. Life Sci.
, vol.66
, pp. 1178-1197
-
-
Schubert, C.1
-
39
-
-
36348975713
-
The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future
-
DOI 10.1002/ajmg.c.30152
-
Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. (2007). The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet 145C:335-345. (Pubitemid 350155972)
-
(2007)
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
, vol.145
, Issue.4
, pp. 335-345
-
-
Shaffer, L.G.1
Bejjani, B.A.2
Torchia, B.3
Kirkpatrick, S.4
Coppinger, J.5
Ballif, B.C.6
-
41
-
-
79960994678
-
Estimation of genome instability by the comet assay in different risk groups
-
Cebulska-Wasilewska, A., Osipov, F., Darroudi, eds. Washington, DC: IOS Press.
-
Smal MP, Savina NV, Kuzhir TD, Goncharova RI. (2010). Estimation of genome instability by the comet assay in different risk groups, Rapid Diagnosis in Populations at Risk from Radiation and Chemicals/NATO Science for Peace and Security Series E: Human and Societal Dynamics, Vol.73. In: A., Cebulska-Wasilewska, A., Osipov, F., Darroudi, eds. Washington, DC: IOS Press. pp. 201-210.
-
(2010)
Rapid Diagnosis in Populations at Risk from Radiation and Chemicals/NATO Science for Peace and Security Series E: Human and Societal Dynamics
, vol.73
, pp. 201-210
-
-
Smal, M.P.1
Savina, N.V.2
Kuzhir, T.D.3
Goncharova, R.I.4
-
42
-
-
77954458672
-
Strong association between cancer and genomic instability
-
Streffer C. (2010). Strong association between cancer and genomic instability. Radiat Environ Biophys 49:125-131.
-
(2010)
Radiat. Environ. Biophys
, vol.49
, pp. 125-131
-
-
Streffer, C.1
-
43
-
-
67349084662
-
Histone H2A.X Tyr142 phosphorylation: A novel sWItCH for apoptosis
-
Stucki M. (2009). Histone H2A.X Tyr142 phosphorylation: a novel sWItCH for apoptosis? DNA Repair (Amst) 8:873-876.
-
(2009)
DNA Repair (Amst.)
, vol.8
, pp. 873-876
-
-
Stucki, M.1
-
44
-
-
2542476892
-
Differentiation of Fanconi anemia from 'idiopathic' aplastic anemia by induced chromosomal breakage study using mitomycin-C (MMC)
-
Talwar R, Choudhry VP, Kucheria K. (2004). Differentiation of Fanconi anemia from idiopathic aplastic anemia by induced chromosomal breakage study using mitomycin-C (MMC). Indian Pediatr 41:473-477. (Pubitemid 38684921)
-
(2004)
Indian Pediatrics
, vol.41
, Issue.5
, pp. 473-477
-
-
Talwar, R.1
Choudhry, V.P.2
Kucheria, K.3
-
45
-
-
0038364116
-
Chromosome instability and nibrin protein variants in NBS heterozygotes
-
Tanzanella C, Antoccia A, Spadoni E, di Masi A, Pecile V, Demori E, Varon R, Marseglia GL, Tiepolo L, Maraschio P. (2003). Chromosome instability and nibrin protein variants in NBS heterozygotes. Eur J Hum Genet 11:297-303. (Pubitemid 36553488)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.4
, pp. 297-303
-
-
Tanzarella, C.1
Antoccia, A.2
Spadoni, E.3
Di Masi, A.4
Pecile, V.5
Demori, E.6
Varon, R.7
Marseglia, G.L.8
Tiepolo, L.9
Maraschio, P.10
-
46
-
-
0141960163
-
Williams-Beuren syndrome: A challenge for genotype-phenotype correlations
-
Tassabehji M. (2003). Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet 12 Spec No 2:R229-R237. (Pubitemid 37259337)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.REV. ISS. 2
-
-
Tassabehji, M.1
-
48
-
-
0034037611
-
Single cell gel/comet assay: Guidelines for in vitro and in vivo genetic toxicology testing
-
DOI 10.1002/(SICI)1098-2280(2000)35:3 <206::AID-EM8> 3.0.CO;2-J
-
Tice RR, Agurell E, Anderson D, Burlinson B, Hartmann A, Kobayashi H, Miyamae Y, Rojas E, Ryu JC, Sasaki YF. (2000). Single cell gel/ comet assay: guidelines for in vitro and in vivo genetic toxicology testing. Environ Mol Mutagen 35:206-221. (Pubitemid 30196665)
-
(2000)
Environmental and Molecular Mutagenesis
, vol.35
, Issue.3
, pp. 206-221
-
-
Tice, R.R.1
Agurell, E.2
Anderson, D.3
Burlinson, B.4
Hartmann, A.5
Kobayashi, H.6
Miyamae, Y.7
Rojas, E.8
Ryu, J.-C.9
Sasaki, Y.F.10
-
49
-
-
13444250245
-
How Fanconi anemia proteins promote the four Rs: Replication, recombination, repair, and recovery
-
Thompson LH, Hinz JM, Yamada NA, Jones NJ. (2005). How Fanconi anemia proteins promote the four Rs: replication, recombination, repair, and recovery. Environ Mol Mutagen 45:128-142.
-
(2005)
Environ. Mol. Mutagen.
, vol.45
, pp. 128-142
-
-
Thompson, L.H.1
Hinz, J.M.2
Yamada, N.A.3
Jones, N.J.4
-
50
-
-
33845707380
-
Cytogenetic investigation in Iranian patients suspected with Fanconi anemia
-
DOI 10.1097/MPH.0b013e31802d3e1d, PII 0004342620061200000013
-
Tootian S, Mahjoubi F, Rahnama M, Hormozian F, Mortezapour F, Razazian F, Manoochehri F, Zamanian M, Nasiri F, Soleymani S, Seyedmortaz L. (2006). Cytogenetic investigation in Iranian patients suspected with Fanconi anemia. J Pediatr Hematol Oncol 28:834-836. (Pubitemid 44967681)
-
(2006)
Journal of Pediatric Hematology/Oncology
, vol.28
, Issue.12
, pp. 834-836
-
-
Tootian, S.1
Mahjoubi, F.2
Rahnama, M.3
Hormozian, F.4
Mortezapour, F.5
Razazian, F.6
Manoochehri, F.7
Zamanian, M.8
Nasiri, F.9
Soleymani, S.10
Seyedmortaz, L.11
-
51
-
-
0033710938
-
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations
-
Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska- Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. (2000). Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet 8:900-902.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 900-902
-
-
Varon, R.1
Seemanova, E.2
Chrzanowska, K.3
Hnateyko, O.4
Piekutowska-Abramczuk, D.5
Krajewska-Walasek, M.6
Sykut-Cegielska, J.7
Sperling, K.8
Reis, A.9
-
52
-
-
0031722111
-
Fanconi's anaemia cells have normal steady-state levels and repair of oxidative DNA base modifications sensitive to Fpg protein
-
DOI 10.1016/S0921-8777(98)00043-3, PII S0921877798000433
-
Will O, Schindler D, Boiteux S, Epe B. (1998). Fanconi s anaemia cells have normal steady-state levels and repair of oxidative DNA base modifications sensitive to Fpg protein. Mutat Res 409:65-72. (Pubitemid 28522172)
-
(1998)
Mutation Research - DNA Repair
, vol.409
, Issue.2
, pp. 65-72
-
-
Will, O.1
Schindler, D.2
Boiteux, S.3
Epe, B.4
-
53
-
-
34948899943
-
Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template
-
DOI 10.1139/O07-069
-
Williams RS, Williams JS, Tainer JA. (2007). Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, doublestrand break signaling, and the chromatin template. Biochem Cell Biol 85:509-520. (Pubitemid 47518045)
-
(2007)
Biochemistry and Cell Biology
, vol.85
, Issue.4
, pp. 509-520
-
-
Williams, R.S.1
Williams, J.S.2
Tainer, J.A.3
-
54
-
-
67249165894
-
Distinct function of 2 chromatin remodeling complexes that share a common subunit, williams syndrome transcription factor wstf
-
Yoshimura K, Kitagawa H, Fujiki R, Tanabe M, Takezawa S, Takada I, Yamaoka I, Yonezawa M, Kondo T, Furutani Y, Yagi H, Yoshinaga S, Masuda T, Fukuda T, Yamamoto Y, Ebihara K, Li DY, Matsuoka R, Takeuchi JK, Matsumoto T, Kato S. (2009). Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). Proc Natl Acad Sci USA 106:9280-9285.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9280-9285
-
-
Yoshimura, K.1
Kitagawa, H.2
Fujiki, R.3
Tanabe, M.4
Takezawa, S.5
Takada, I.6
Yamaoka, I.7
Yonezawa, M.8
Kondo, T.9
Furutani, Y.10
Yagi, H.11
Yoshinaga, S.12
Masuda, T.13
Fukuda, T.14
Yamamoto, Y.15
Ebihara, K.16
Li, D.Y.17
Matsuoka, R.18
Takeuchi, J.K.19
Matsumoto, T.20
Kato, S.21
more..
-
55
-
-
0035024943
-
Hydrogen peroxide: Effects on DNA, chromosomes, cell cycle and apoptosis induction in Fanconi's anemia cell lines
-
Zunino A, Degan P, Vigo T, Abbondandolo A. (2001). Hydrogen peroxide: effects on DNA, chromosomes, cell cycle and apoptosis induction in Fanconi s anemia cell lines. Mutagenesis 16:283-288. (Pubitemid 32447763)
-
(2001)
Mutagenesis
, vol.16
, Issue.3
, pp. 283-288
-
-
Zunino, A.1
Degan, P.2
Vigo, T.3
Abbondandolo, A.4
|