-
2
-
-
0015043748
-
Mutation and cancer: statistical study of retinoblastoma
-
PID: 5279523
-
Knudson Jr AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68:820–3.
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.68
, pp. 820-823
-
-
Knudson, A.G.1
-
3
-
-
3342996653
-
Retinoblastoma: revisiting the model prototype of inherited cancer
-
PID: 15264269
-
Lohmann DR, Gallie BL. Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet. 2004;129C(1):23–8.
-
(2004)
Am J Med Genet C Semin Med Genet
, vol.129C
, Issue.1
, pp. 23-28
-
-
Lohmann, D.R.1
Gallie, B.L.2
-
4
-
-
0028333031
-
Parental origin of germline and somatic mutations in the retinoblastoma gene
-
PID: 8034292, COI: 1:STN:280:DyaK2czgslOjsQ%3D%3D
-
Kato MV, Ishizaki K, Shimizu T, Ejima Y, Tanooka H, Takayama J, et al. Parental origin of germline and somatic mutations in the retinoblastoma gene. Hum Genet. 1994;94:31–8.
-
(1994)
Hum Genet
, vol.94
, pp. 31-38
-
-
Kato, M.V.1
Ishizaki, K.2
Shimizu, T.3
Ejima, Y.4
Tanooka, H.5
Takayama, J.6
-
5
-
-
0025492871
-
Preferential retention of paternal alleles in human retinoblastoma: evidence for genomic imprinting
-
PID: 1981144, COI: 1:CAS:528:DyaK38XhsV2itbg%3D
-
Leach RJ, Magewu AN, Buckley JD, Benedict WF, Rother C, Murphree AL, et al. Preferential retention of paternal alleles in human retinoblastoma: evidence for genomic imprinting. Cell Growth Differ. 1990;1(9):401–6.
-
(1990)
Cell Growth Differ
, vol.1
, Issue.9
, pp. 401-406
-
-
Leach, R.J.1
Magewu, A.N.2
Buckley, J.D.3
Benedict, W.F.4
Rother, C.5
Murphree, A.L.6
-
6
-
-
0026757785
-
Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
-
Munier F, Spence MA, Pescia G, Balmer A, Gailloud C, Thonney F, et al. Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene. Hum Genet. 1992;9(5):508–12.
-
(1992)
Hum Genet
, vol.9
, Issue.5
, pp. 508-512
-
-
Munier, F.1
Spence, M.A.2
Pescia, G.3
Balmer, A.4
Gailloud, C.5
Thonney, F.6
-
7
-
-
74249112469
-
The human retinoblastoma gene is imprinted
-
PID: 20041224
-
Kanber D, Berulava T, Ammerphol O, Mitter D, Richter J, Siebert R, et al. The human retinoblastoma gene is imprinted. Plos Genet. 2009;5(12):e1000790.
-
(2009)
Plos Genet
, vol.5
, Issue.12
, pp. 1000790
-
-
Kanber, D.1
Berulava, T.2
Ammerphol, O.3
Mitter, D.4
Richter, J.5
Siebert, R.6
-
8
-
-
0024365892
-
Epigenetic changes contribute to the formation and spontaneous regression of retinoblastoma
-
PID: 2550354, COI: 1:STN:280:DyaL1MznvFWhsg%3D%3D
-
Greger V, Passarge E, Höping W, Messmer E, Horsthemke B. Epigenetic changes contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet. 1989;83:155–8.
-
(1989)
Hum Genet
, vol.83
, pp. 155-158
-
-
Greger, V.1
Passarge, E.2
Höping, W.3
Messmer, E.4
Horsthemke, B.5
-
9
-
-
0025891856
-
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene
-
PID: 1673287, COI: 1:CAS:528:DyaK3MXkvVKnu7k%3D
-
Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP. Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet. 1991;48(5):880–8.
-
(1991)
Am J Hum Genet
, vol.48
, Issue.5
, pp. 880-888
-
-
Sakai, T.1
Toguchida, J.2
Ohtani, N.3
Yandell, D.W.4
Rapaport, J.M.5
Dryja, T.P.6
-
10
-
-
0027537296
-
CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene
-
PID: 8455933, COI: 1:CAS:528:DyaK3sXit1Ons74%3D
-
Ohtani-Fujita N, Fujita T, Aoike A, Osifchin NE, Robbins PD, Sakai T. CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene. Oncogene. 1993;8(4):1063–7.
-
(1993)
Oncogene
, vol.8
, Issue.4
, pp. 1063-1067
-
-
Ohtani-Fujita, N.1
Fujita, T.2
Aoike, A.3
Osifchin, N.E.4
Robbins, P.D.5
Sakai, T.6
-
12
-
-
79958095398
-
Gain of DNA methylation is enhanced in the absence of CTCF at the human retinoblastoma gene promoter
-
PID: 21663659
-
Dávalos Salas M, Furlan-Magaril M, González Buendía E, Valdes-Quezada C, Ayala-Ortega E, Recillas-Targa F. Gain of DNA methylation is enhanced in the absence of CTCF at the human retinoblastoma gene promoter. BMC Cancer. 2011;11:232.
-
(2011)
BMC Cancer
, vol.11
, pp. 232
-
-
Dávalos Salas, M.1
Furlan-Magaril, M.2
González Buendía, E.3
Valdes-Quezada, C.4
Ayala-Ortega, E.5
Recillas-Targa, F.6
-
13
-
-
0030925099
-
Extensive DNA methylation spanning the Rb promoter in retinoblastoma tumors
-
PID: 9187126, COI: 1:CAS:528:DyaK2sXjslGquro%3D
-
Stirzaker C, Millar DS, Paul CL, Warnecke PM, Harrison J, Vincent PC, et al. Extensive DNA methylation spanning the Rb promoter in retinoblastoma tumors. Cancer Res. 1997;57(11):2229–37.
-
(1997)
Cancer Res
, vol.57
, Issue.11
, pp. 2229-2237
-
-
Stirzaker, C.1
Millar, D.S.2
Paul, C.L.3
Warnecke, P.M.4
Harrison, J.5
Vincent, P.C.6
-
14
-
-
0030848575
-
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma
-
Ohtani-Fujita N, Dryja TP, Rapaport JM, Fujita T, Matsumara S, Ozaka K, et al. Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet. 1977;98:43–9.
-
(1977)
Cancer Genet Cytogenet
, vol.98
, pp. 43-49
-
-
Ohtani-Fujita, N.1
Dryja, T.P.2
Rapaport, J.M.3
Fujita, T.4
Matsumara, S.5
Ozaka, K.6
-
15
-
-
64749089013
-
Cause-specific mortality in long-term survivors of retinoblastoma
-
Yu C, Tucker MA, Abramson DH, Furukawa K, Seddon JM, Fraumeni Jr JF. Cause-specific mortality in long-term survivors of retinoblastoma. JNatl Cancer Inst. 2009;101(8):581–91.
-
(2009)
JNatl Cancer Inst
, vol.101
, Issue.8
, pp. 581-591
-
-
Yu, C.1
Tucker, M.A.2
Abramson, D.H.3
Furukawa, K.4
Seddon, J.M.5
Fraumeni, J.F.6
-
16
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
-
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15:7–12.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 7-12
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
17
-
-
0025900744
-
Oncogenic germline mutations in Sp1 and ATF sites in the human retinoblastoma gene
-
PID: 1881452, COI: 1:CAS:528:DyaK3MXmtVSisbo%3D
-
Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP. Oncogenic germline mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature. 1991;353:83–6.
-
(1991)
Nature
, vol.353
, pp. 83-86
-
-
Sakai, T.1
Ohtani, N.2
McGee, T.L.3
Robbins, P.D.4
Dryja, T.P.5
-
18
-
-
0028238203
-
A silencer element in the retinoblastoma tumor-suppressor gene
-
PID: 8183566, COI: 1:CAS:528:DyaK2cXlt1Kmtrc%3D
-
Ohtani-Fujita N, Fujita T, Takahashi R, Robbins PD, Dryja TP, Sakai T. A silencer element in the retinoblastoma tumor-suppressor gene. Oncogene. 1994;9(6):1703–11.
-
(1994)
Oncogene
, vol.9
, Issue.6
, pp. 1703-1711
-
-
Ohtani-Fujita, N.1
Fujita, T.2
Takahashi, R.3
Robbins, P.D.4
Dryja, T.P.5
Sakai, T.6
-
19
-
-
0028332895
-
The retinoblastoma binding factor 1 (RBF-1) site in RB gene promoter binds preferentially E4TF1, a member of the Ets transcription factors family
-
PID: 8208529, COI: 1:CAS:528:DyaK2cXltVWisrY%3D
-
Savoysky E, Mizuno T, Sowa Y, Watanabe H, Sawada J, Nomura H, et al. The retinoblastoma binding factor 1 (RBF-1) site in RB gene promoter binds preferentially E4TF1, a member of the Ets transcription factors family. Oncogene. 1994;9(7):1839–46.
-
(1994)
Oncogene
, vol.9
, Issue.7
, pp. 1839-1846
-
-
Savoysky, E.1
Mizuno, T.2
Sowa, Y.3
Watanabe, H.4
Sawada, J.5
Nomura, H.6
-
20
-
-
0029671147
-
A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene
-
PID: 8570221, COI: 1:CAS:528:DyaK28XotFSisw%3D%3D
-
Cowell JK, Bia B, Akoulitchev A. A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene. Oncogene. 1996;12(2):431–6.
-
(1996)
Oncogene
, vol.12
, Issue.2
, pp. 431-436
-
-
Cowell, J.K.1
Bia, B.2
Akoulitchev, A.3
-
21
-
-
84954296883
-
-
Short Tandem Repeat DNA Internet DataBase. Accessed 20 July 2015
-
Short Tandem Repeat DNA Internet DataBase. http://www.cstl.nist.gov/strbase/str_d13s.htm. Accessed 20 July 2015
-
-
-
-
22
-
-
84954296884
-
-
Ensembl 2015. Accessed July 2015
-
Ensembl 2015. http://www.ensembl.org/Homo_sapiens/Marker/Details?m=SHGC-4544. Accessed July 2015
-
-
-
-
23
-
-
0028085121
-
The genetics of retinoblastoma, revisited
-
PID: 8304343, COI: 1:STN:280:DyaK2c7js1Crtw%3D%3D
-
Naumova A, Sapienza C. The genetics of retinoblastoma, revisited. Am J Hum Genet. 1994;54(2):264–73.
-
(1994)
Am J Hum Genet
, vol.54
, Issue.2
, pp. 264-273
-
-
Naumova, A.1
Sapienza, C.2
-
24
-
-
0036302134
-
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene
-
PID: 12016586, COI: 1:CAS:528:DC%2BD38Xlt1Krtr8%3D
-
Klutz M, Brockman D, Lohmann DR. A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. Am J Hum Genet. 2002;71:174–9.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 174-179
-
-
Klutz, M.1
Brockman, D.2
Lohmann, D.R.3
-
25
-
-
84954296885
-
-
Homo sapiens:GRCh38.p2 (GCF_000001405.28)Chr 13 (NC_000013.11):48.30M - 48.30M. Accessed November 2015
-
Homo sapiens:GRCh38.p2 (GCF_000001405.28)Chr 13 (NC_000013.11):48.30M - 48.30M. http://www.ncbi.nlm.nih.gov/variation/view/?q=rs387906520. Accessed November 2015.
-
-
-
-
26
-
-
85027838204
-
-
RB1 homepage - rb1-lsdb - Leiden Open Variation Database
-
RB1 homepage - rb1-lsdb - Leiden Open Variation Database. http://rb1-lsdb.d-lohmann.de/home.php?select_db=RB1
-
-
-
-
27
-
-
33745018815
-
Visualizing dynamic E2F-mediated repression in vivo
-
PID: 16738312, COI: 1:CAS:528:DC%2BD28XlvVeqtbs%3D
-
Agromayor M, Wloga E, Naglieri B, Abrashkin J, Verma K, Yamasaki L. Visualizing dynamic E2F-mediated repression in vivo. Mol Cell Biol. 2006;26(12):4448–61.
-
(2006)
Mol. Cell Biol
, vol.26
, Issue.12
, pp. 4448-4461
-
-
Agromayor, M.1
Wloga, E.2
Naglieri, B.3
Abrashkin, J.4
Verma, K.5
Yamasaki, L.6
-
28
-
-
58149144567
-
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons TACSTD1
-
PID: 19098912, COI: 1:CAS:528:DC%2BD1cXhsFajtbnN
-
Ligtenberg MJ, Kuiper RP, Chan TL, Goosens M, Hebeda KM, Voorendt M, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons TACSTD1. Nat Genet. 2009;41(1):112–7.
-
(2009)
Nat. Genet
, vol.41
, Issue.1
, pp. 112-117
-
-
Ligtenberg, M.J.1
Kuiper, R.P.2
Chan, T.L.3
Goosens, M.4
Hebeda, K.M.5
Voorendt, M.6
-
29
-
-
0034254517
-
Alpha-thalassemia resulting from a negative chromosomal position effect
-
PID: 10910890, COI: 1:CAS:528:DC%2BD3cXltlKitro%3D
-
Barbour VM, Tufarelli C, Sharpe JA, Smith ZE, Ayyub H, Heinlein CA, et al. Alpha-thalassemia resulting from a negative chromosomal position effect. Blood. 2000;96(3):800–7.
-
(2000)
Blood
, vol.96
, Issue.3
, pp. 800-807
-
-
Barbour, V.M.1
Tufarelli, C.2
Sharpe, J.A.3
Smith, Z.E.4
Ayyub, H.5
Heinlein, C.A.6
-
30
-
-
34249314024
-
Down regulation of death associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia
-
PID: 17540169, COI: 1:CAS:528:DC%2BD2sXmsl2qsL0%3D
-
Raval A, Tanger SM, Byr JCAngeman EB, Perko JD, Chen S-S, Hackanson B, et al. Down regulation of death associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell. 2007;129(5):879–90.
-
(2007)
Cell
, vol.129
, Issue.5
, pp. 879-890
-
-
Raval, A.1
Tanger, S.M.2
Byr JCAngeman, E.B.3
Perko, J.D.4
Chen, S.-S.5
Hackanson, B.6
-
31
-
-
0038581890
-
Transcription of antisense RNA leading to genetic silencing and methylation as a novel cause of human gene disease
-
Tuffarelli C, Stanley JAS, Garrick D, Sharpe JA, Ayyub H, Wood WG, et al. Transcription of antisense RNA leading to genetic silencing and methylation as a novel cause of human gene disease. Nat Genet. 2003;34(2):157–65.
-
(2003)
Nat. Genet
, vol.34
, Issue.2
, pp. 157-165
-
-
Tuffarelli, C.1
Stanley, J.A.S.2
Garrick, D.3
Sharpe, J.A.4
Ayyub, H.5
Wood, W.G.6
-
32
-
-
77953664146
-
Epimutations and cancer predisposition: importance and mechanisms
-
PID: 20359882, COI: 1:CAS:528:DC%2BC3cXntlCru70%3D
-
Hesson LB, HitchinsMP WRL. Epimutations and cancer predisposition: importance and mechanisms. Curr Op Genet Dev. 2010;20:290–8.
-
(2010)
Curr Op Genet Dev
, vol.20
, pp. 290-298
-
-
Hesson, L.B.1
HitchinsMP, W.R.L.2
-
33
-
-
77957374539
-
Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility
-
PID: 20920750, COI: 1:CAS:528:DC%2BC3cXhs1Sis77N
-
Hitchins MP. Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility. Adv Genet. 2010;70:201–43.
-
(2010)
Adv. Genet.
, vol.70
, pp. 201-243
-
-
Hitchins, M.P.1
-
34
-
-
79952391314
-
Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region
-
PID: 21305643, COI: 1:CAS:528:DC%2BC3MXivVGjsro%3D
-
Gustmann S, Klein-Hitpass L, Stephan H, Weber S, Bornfeld N, Kaulisch M, et al. Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region. Genes Chromosomes Cancer. 2011;50(5):327–37.
-
(2011)
Genes Chromosomes Cancer
, vol.50
, Issue.5
, pp. 327-337
-
-
Gustmann, S.1
Klein-Hitpass, L.2
Stephan, H.3
Weber, S.4
Bornfeld, N.5
Kaulisch, M.6
-
35
-
-
1242292336
-
Referral for cancer genetics consultation: a review and compilation of risk assessment criteria
-
Hampel H, Sweet K, Westman JA, Offit K, Eng C. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet. 2004;41:801–7.
-
(2004)
J. Med. Genet
, vol.41
, pp. 801-807
-
-
Hampel, H.1
Sweet, K.2
Westman, J.A.3
Offit, K.4
Eng, C.5
|