-
1
-
-
63149168931
-
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA
-
Yeshaya J., Amir I., Rimon A., Freedman J., Shohat M., Avivi L. Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA. Mol. Cytogenet. 2009, 2:11. http://www.molecularcytogenetics.org/content/2/1/11.
-
(2009)
Mol. Cytogenet.
, vol.2
, pp. 11
-
-
Yeshaya, J.1
Amir, I.2
Rimon, A.3
Freedman, J.4
Shohat, M.5
Avivi, L.6
-
2
-
-
0141960163
-
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
-
Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum. Mol. Genet. 2003, 12:229-237.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 229-237
-
-
Tassabehji, M.1
-
3
-
-
43049150400
-
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
-
Pober B.R., Johnson M., Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J. Clin. Invest. 2008, 118:1606-1615.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 1606-1615
-
-
Pober, B.R.1
Johnson, M.2
Urban, Z.3
-
4
-
-
44049103092
-
Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype
-
Martens M.A., Wilson S.J., Reutens D.C. Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J. Child Psychol. Psychiatry 2008, 49:576-608.
-
(2008)
J. Child Psychol. Psychiatry
, vol.49
, pp. 576-608
-
-
Martens, M.A.1
Wilson, S.J.2
Reutens, D.C.3
-
5
-
-
63449107365
-
The genomic basis of the Williams-Beuren syndrome
-
Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell. Mol. Life Sci. 2009, 66:1178-1197.
-
(2009)
Cell. Mol. Life Sci.
, vol.66
, pp. 1178-1197
-
-
Schubert, C.1
-
6
-
-
0038728033
-
Mutational mechanisms of Williams-Beuren syndrome deletions
-
Bayés M., Magano L.F., Rivera N., Flores R., Pérez Jurado L.A. Mutational mechanisms of Williams-Beuren syndrome deletions. Am. J. Hum. Genet. 2003, 73:131-151.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 131-151
-
-
Bayés, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Pérez Jurado, L.A.5
-
7
-
-
0032837598
-
Williams-Beuren syndrome: genes and mechanisms
-
Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum. Mol. Genet. 1999, 8:1947-1954.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1947-1954
-
-
Francke, U.1
-
8
-
-
46049096956
-
Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders
-
O'Driscoll M. Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders. Curr. Genomics 2008, 9:137-146.
-
(2008)
Curr. Genomics
, vol.9
, pp. 137-146
-
-
O'Driscoll, M.1
-
9
-
-
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 D.Y., Matsuoka R., Takeuchi J.K., Matsumoto T., Kato S. Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). Proc. Natl. Acad. Sci. U.S.A. 2009, 106:9280-9285.
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, 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..
-
10
-
-
36348975713
-
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
-
C
-
Shaffer L.G., Bejjani B.A., Torchia B., Kirkpatrick S., Coppinger J., Ballif B.C. 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. 2007, 145C:335-345.
-
(2007)
Am. J. Med. Genet. C: Semin. Med. Genet.
, vol.145
, pp. 335-345
-
-
Shaffer, L.G.1
Bejjani, B.A.2
Torchia, B.3
Kirkpatrick, S.4
Coppinger, J.5
Ballif, B.C.6
-
11
-
-
79961006106
-
Williams syndrome in Belarus: molecular-cytogenetic study and characterization of variability of phenotypic features
-
(in Russian)
-
Khurs O.M., Polityko A.D., Rumyantseva N.V., Isakovich L.V., Kulak V.D., Egorova T.M., Naumchik I.V. Williams syndrome in Belarus: molecular-cytogenetic study and characterization of variability of phenotypic features. Proceedings " Molecular and Applied Genetics" 10 2009, 170-176. (in Russian).
-
(2009)
Proceedings " Molecular and Applied Genetics" 10
, pp. 170-176
-
-
Khurs, O.M.1
Polityko, A.D.2
Rumyantseva, N.V.3
Isakovich, L.V.4
Kulak, V.D.5
Egorova, T.M.6
Naumchik, I.V.7
-
12
-
-
34248327992
-
Williams syndrome: Development of a new scoring system for clinical diagnosis
-
Sugayama S.M., Leone C., Chauffaille Mde L., Okay T.S., Kim C.A. Williams syndrome: Development of a new scoring system for clinical diagnosis. Clinics (Sao Paulo) 2007, 62:159-166.
-
(2007)
Clinics (Sao Paulo)
, vol.62
, pp. 159-166
-
-
Sugayama, S.M.1
Leone, C.2
Chauffaille Mde, L.3
Okay, T.S.4
Kim, C.A.5
-
13
-
-
79960994678
-
Estimation of genome instability by the comet assay in different risk groups
-
IOS Press
-
Smal M.P., Savina N.V., Kuzhir T.D., Goncharova R.I. Estimation of genome instability by the comet assay in different risk groups. Rapid Diagnosis in Populations at Risk from Radiatial and Chemicals/NATO Science for Peace and Security Series E: Human and Societal Dynamics 2010, vol. 73:201-210. IOS Press.
-
(2010)
Rapid Diagnosis in Populations at Risk from Radiatial 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
-
14
-
-
51149102710
-
Trypan blue exclusion test of cell viability
-
Appendix 3:Appendix 3B
-
Strober W. Trypan blue exclusion test of cell viability. Curr. Protoc. Immunol. 2001, Appendix 3:Appendix 3B.
-
(2001)
Curr. Protoc. Immunol.
-
-
Strober, W.1
-
15
-
-
0034037611
-
Single cell gel/comet assay: guidelines for in vitro and in vivo genetic toxicology testing
-
Tice R.R., Agurell E., Anderson D., Burlinson B., Hartmann A., Kobayashi H., Miyamae Y., Rojas E., Ryu J.C., Sasaki Y.F. Single cell gel/comet assay: guidelines for in vitro and in vivo genetic toxicology testing. Environ. Mol. Mutagen. 2000, 35:206-221.
-
(2000)
Environ. Mol. Mutagen.
, vol.35
, 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
-
16
-
-
8544283254
-
The comet assay for DNA damage and repair: principles, applications, and limitations
-
Collins A.R. The comet assay for DNA damage and repair: principles, applications, and limitations. Mol. Biotechnol. 2004, 26:249-261.
-
(2004)
Mol. Biotechnol.
, vol.26
, pp. 249-261
-
-
Collins, A.R.1
-
17
-
-
0028004117
-
In vitro repair of oxidative and ultraviolet-induced DNA damage in supercoiled nucleoid DNA by human cell extract
-
Collins A.R., Fleming I.M., Gedik C.M. In vitro repair of oxidative and ultraviolet-induced DNA damage in supercoiled nucleoid DNA by human cell extract. Biochim. Biophys. Acta 1994, 1219:724-727.
-
(1994)
Biochim. Biophys. Acta
, vol.1219
, pp. 724-727
-
-
Collins, A.R.1
Fleming, I.M.2
Gedik, C.M.3
-
18
-
-
0028305534
-
The effect of various antioxidants and other modifying agents on oxygen-radical-generated DNA damage in human lymphocytes in the COMET assay
-
Anderson D., Yu T.W., Phillips B.J., Schmezer P. The effect of various antioxidants and other modifying agents on oxygen-radical-generated DNA damage in human lymphocytes in the COMET assay. Mutat. Res. 1994, 307:261-271.
-
(1994)
Mutat. Res.
, vol.307
, pp. 261-271
-
-
Anderson, D.1
Yu, T.W.2
Phillips, B.J.3
Schmezer, P.4
-
19
-
-
0003676646
-
-
Karger, Basel
-
Shaffer L.G., Slovak M.L., Campbell L.J. An International System for Human Cytogenetic Nomenclature, (ISCN 2009): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature 2009, Karger, Basel, p. 138.
-
(2009)
An International System for Human Cytogenetic Nomenclature, (ISCN 2009): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature
, pp. 138
-
-
Shaffer, L.G.1
Slovak, M.L.2
Campbell, L.J.3
-
20
-
-
34248143695
-
FISH on chromosome preparations of peripheral blood - protocol
-
Springer-Verlag, Berlin, Heidelberg, B. Rautenstraus, T. Liehr (Eds.)
-
Liehr T., Claussen U. FISH on chromosome preparations of peripheral blood - protocol. FISH Technology 2002, 73-81. Springer-Verlag, Berlin, Heidelberg. B. Rautenstraus, T. Liehr (Eds.).
-
(2002)
FISH Technology
, pp. 73-81
-
-
Liehr, T.1
Claussen, U.2
-
21
-
-
79960984265
-
Cytogenetic analysis of individuals migrated from Gomel region to Minsk
-
(in Russian)
-
Polityko A.D., Egorova T.M. Cytogenetic analysis of individuals migrated from Gomel region to Minsk. Int. J. Rad. Med. 2001, 3:274. (in Russian).
-
(2001)
Int. J. Rad. Med.
, vol.3
, pp. 274
-
-
Polityko, A.D.1
Egorova, T.M.2
-
22
-
-
79960990465
-
Cytogenetic monitoring database: the assessment of the tendencies and dynamics of mutagenesis in children
-
Medizinische Genetik 3, Leipzig, Germany
-
Polityko A.D., Egorova T.M., Pisarik I.V., Khurs O.M. 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 2002, 290. Medizinische Genetik 3, Leipzig, Germany.
-
(2002)
Abs. of 14th Meeting of the German Society of Human Genetics
, pp. 290
-
-
Polityko, A.D.1
Egorova, T.M.2
Pisarik, I.V.3
Khurs, O.M.4
-
23
-
-
0028437934
-
The cytogenetic monitoring of the victims of the accident at the Chernobyl Atomic Electric Power Station
-
(in Russian)
-
Pilinskaia M.A., Shemetun A.M., Dybskǐ S.S., Red'ko D.V., Vaniurikhina E.A., Dybskaia E.B. The cytogenetic monitoring of the victims of the accident at the Chernobyl Atomic Electric Power Station. Tsitol. Genet. 1994, 28:18-25. (in Russian).
-
(1994)
Tsitol. Genet.
, vol.28
, pp. 18-25
-
-
Pilinskaia, M.A.1
Shemetun, A.M.2
Dybskǐ, S.S.3
Red'ko, D.V.4
Vaniurikhina, E.A.5
Dybskaia, E.B.6
-
24
-
-
18744426660
-
The cytogenetic examination of children in the Saint Petersburg region who suffered as a result of the accident at the Chernobyl Atomic Electric Power Station. The frequency of unstable chromosome aberrations in the peripheral blood lymphocytes
-
(in Russian)
-
Vorobtsova I.E., Vorob'eva M.V., Bogomazova A.N., Piukkenen AIu, Arkhangel'skaia T.B. The cytogenetic examination of children in the Saint Petersburg region who suffered as a result of the accident at the Chernobyl Atomic Electric Power Station. The frequency of unstable chromosome aberrations in the peripheral blood lymphocytes. Radiat. Biol. Radioecol. 1995, 35:630-635. (in Russian).
-
(1995)
Radiat. Biol. Radioecol.
, vol.35
, pp. 630-635
-
-
Vorobtsova, I.E.1
Vorob'eva, M.V.2
Bogomazova, A.N.3
Piukkenen, A.4
Arkhangel'skaia, T.B.5
-
25
-
-
0028242630
-
Cancer risk in humans predicted by increased levels of chromosomal aberrations in lymphocytes: Nordic study group on the health risk of chromosome damage
-
Hagmar L., Brøgger A., Hansteen I.L., Heim S., Högstedt B., Knudsen L., Lambert B., Linnainmaa K., Mitelman F., Nordenson I. Cancer risk in humans predicted by increased levels of chromosomal aberrations in lymphocytes: Nordic study group on the health risk of chromosome damage. Cancer Res. 1994, 54:2919-2922.
-
(1994)
Cancer Res.
, vol.54
, pp. 2919-2922
-
-
Hagmar, L.1
Brøgger, A.2
Hansteen, I.L.3
Heim, S.4
Högstedt, B.5
Knudsen, L.6
Lambert, B.7
Linnainmaa, K.8
Mitelman, F.9
Nordenson, I.10
-
26
-
-
16944363732
-
Age-related increase of baseline frequencies of sister chromatid exchanges, chromosome aberrations, and micronuclei in human lymphocytes
-
Bolognesi C., Abbondandolo A., Barale R., Casalone R., Dalprà L., De Ferrari M., Degrassi F., Forni A., Lamberti L., Lando C., Migliore L., Padovani P., Pasquini R., Puntoni R., Sbrana I., Stella M., Bonassi S. Age-related increase of baseline frequencies of sister chromatid exchanges, chromosome aberrations, and micronuclei in human lymphocytes. Cancer Epidemiol. Biomarkers Prev. 1997, 6:249-256.
-
(1997)
Cancer Epidemiol. Biomarkers Prev.
, vol.6
, pp. 249-256
-
-
Bolognesi, C.1
Abbondandolo, A.2
Barale, R.3
Casalone, R.4
Dalprà, L.5
De Ferrari, M.6
Degrassi, F.7
Forni, A.8
Lamberti, L.9
Lando, C.10
Migliore, L.11
Padovani, P.12
Pasquini, R.13
Puntoni, R.14
Sbrana, I.15
Stella, M.16
Bonassi, S.17
-
27
-
-
0034653699
-
Chromosomal aberrations in lymphocytes predict human cancer independently of exposure to carcinogens
-
Bonassi S., Hagmar L., Strömberg U., Montagud A.H., Tinnerberg H., Forni A., Heikkilä P., Wanders S., Wilhardt P., Hansteen I.L., Knudsen L.E., Norppa H. Chromosomal aberrations in lymphocytes predict human cancer independently of exposure to carcinogens. Cancer Res. 2000, 60:1619-1625.
-
(2000)
Cancer Res.
, vol.60
, pp. 1619-1625
-
-
Bonassi, S.1
Hagmar, L.2
Strömberg, U.3
Montagud, A.H.4
Tinnerberg, H.5
Forni, A.6
Heikkilä, P.7
Wanders, S.8
Wilhardt, P.9
Hansteen, I.L.10
Knudsen, L.E.11
Norppa, H.12
-
28
-
-
33847613569
-
Oxidative DNA damage repair in mammalian cells: a new perspective
-
Hazra T.K., Das A., Das S., Choudhury S., Kow Y.W., Roy R. Oxidative DNA damage repair in mammalian cells: a new perspective. DNA Repair (Amst) 2007, 6:470-480.
-
(2007)
DNA Repair (Amst)
, vol.6
, pp. 470-480
-
-
Hazra, T.K.1
Das, A.2
Das, S.3
Choudhury, S.4
Kow, Y.W.5
Roy, R.6
-
29
-
-
58949084649
-
Base excision repair of oxidative DNA damage and association with cancer and aging
-
Maynard S., Schurman S.H., Harboe C., de Souza-Pinto N.C., Bohr V.A. Base excision repair of oxidative DNA damage and association with cancer and aging. Carcinogenesis 2009, 30:2-10.
-
(2009)
Carcinogenesis
, vol.30
, pp. 2-10
-
-
Maynard, S.1
Schurman, S.H.2
Harboe, C.3
de Souza-Pinto, N.C.4
Bohr, V.A.5
-
30
-
-
0037022534
-
Oxygen metabolism causes chromosome breaks and is associated with the neuronal apoptosis observed in DNA double-strand break repair mutants
-
Karanjawala Z.E., Murphy N., Hinton D.R., Hsieh C.L., Lieber M.R. Oxygen metabolism causes chromosome breaks and is associated with the neuronal apoptosis observed in DNA double-strand break repair mutants. Curr. Biol. 2002, 12:397-402.
-
(2002)
Curr. Biol.
, vol.12
, pp. 397-402
-
-
Karanjawala, Z.E.1
Murphy, N.2
Hinton, D.R.3
Hsieh, C.L.4
Lieber, M.R.5
-
31
-
-
0032408489
-
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23
-
Peoples R.J., Cisco M.J., Kaplan P., Francke U. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet. Cell Genet. 1998, 82:238-246.
-
(1998)
Cytogenet. Cell Genet.
, vol.82
, pp. 238-246
-
-
Peoples, R.J.1
Cisco, M.J.2
Kaplan, P.3
Francke, U.4
-
32
-
-
0032400961
-
A novel human gene, WSTF, is deleted in Williams syndrome
-
Lu X., Meng X., Morris C.A., Keating M.T. A novel human gene, WSTF, is deleted in Williams syndrome. Genomics 1998, 54:241-249.
-
(1998)
Genomics
, vol.54
, pp. 241-249
-
-
Lu, X.1
Meng, X.2
Morris, C.A.3
Keating, M.T.4
-
33
-
-
63849187827
-
Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions
-
Cook P.J., Ju B.G., Telese F., Wang X., Glass C.K., Rosenfeld M.G. Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature 2009, 458:591-596.
-
(2009)
Nature
, vol.458
, pp. 591-596
-
-
Cook, P.J.1
Ju, B.G.2
Telese, F.3
Wang, X.4
Glass, C.K.5
Rosenfeld, M.G.6
-
34
-
-
58149242430
-
WSTF regulates the function of H2A.X via a novel tyrosine kinase activity
-
Xiao A., Li H., Shechter D., Ahn S.H., Fabrizio L.A., Erdjument-Bromage H., Ishibe-Murakami S., Wang B., Tempst P., Hofmann K., Patel D.J., Elledge S.J., Allis C.D. WSTF regulates the function of H2A.X via a novel tyrosine kinase activity. Nature 2009, 457:57-62.
-
(2009)
Nature
, vol.457
, pp. 57-62
-
-
Xiao, A.1
Li, H.2
Shechter, D.3
Ahn, S.H.4
Fabrizio, L.A.5
Erdjument-Bromage, H.6
Ishibe-Murakami, S.7
Wang, B.8
Tempst, P.9
Hofmann, K.10
Patel, D.J.11
Elledge, S.J.12
Allis, C.D.13
-
35
-
-
0032489391
-
Reconstitution of recombinant human replication factor C (RFC) and identification of an RFC subcomplex possessing DNA-dependent ATPase activity
-
Ellison V., Stillman B. Reconstitution of recombinant human replication factor C (RFC) and identification of an RFC subcomplex possessing DNA-dependent ATPase activity. J. Biol. Chem. 1998, 273:5979-5987.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 5979-5987
-
-
Ellison, V.1
Stillman, B.2
-
36
-
-
0345564858
-
Replication protein A-mediated recruitment and activation of Rad17 complexes
-
Zou L., Liu D., Elledge S.J. Replication protein A-mediated recruitment and activation of Rad17 complexes. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:13827-13832.
-
(2003)
Proc. Natl. Acad. Sci. U.S.A.
, vol.100
, pp. 13827-13832
-
-
Zou, L.1
Liu, D.2
Elledge, S.J.3
-
37
-
-
34347258929
-
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
-
O'Driscoll M., Dobyns W.B., van Hagen J.M., Jeggo P.A. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am. J. Hum. Genet. 2007, 81:77-86.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 77-86
-
-
O'Driscoll, M.1
Dobyns, W.B.2
van Hagen, J.M.3
Jeggo, P.A.4
-
38
-
-
56649088073
-
Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair
-
Czornak K., Chughtai S., Chrzanowska K.H. Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair. J. Appl. Genet. 2008, 49:383-396.
-
(2008)
J. Appl. Genet.
, vol.49
, pp. 383-396
-
-
Czornak, K.1
Chughtai, S.2
Chrzanowska, K.H.3
-
39
-
-
67349084662
-
Histone H2A.X Tyr142 phosphorylation: a novel switch for apoptosis?
-
Stucki M. Histone H2A.X Tyr142 phosphorylation: a novel switch for apoptosis?. DNA Repair (Amst) 2009, 8:873-876.
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 873-876
-
-
Stucki, M.1
-
40
-
-
79952342142
-
ATM-dependent cellular response to DNA double strand breaks plays a pivotal role in the maintenance of the integrity of the genome
-
Suzuki K., Yamauchi M., Yamashita S. ATM-dependent cellular response to DNA double strand breaks plays a pivotal role in the maintenance of the integrity of the genome. Radiat. Prot. Dosimetry 2011, 143:279-283.
-
(2011)
Radiat. Prot. Dosimetry
, vol.143
, pp. 279-283
-
-
Suzuki, K.1
Yamauchi, M.2
Yamashita, S.3
|