-
2
-
-
0018642114
-
Genetics of retinoblastoma
-
Vogt F:Genetics of retinoblastoma. Hum Genet 1979, 52:1-54
-
(1979)
Hum. Genet.
, vol.52
, pp. 1-54
-
-
Vogt, F.1
-
3
-
-
0020518746
-
Expression of recessive alleles by chromosomal mechanism in retinoblastoma
-
Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL: Expression of recessive alleles by chromosomal mechanism in retinoblastoma. Nature 1983, 305: 779-784.
-
(1983)
Nature
, vol.305
, pp. 779-784
-
-
Cavenee, W.K.1
Dryja, T.P.2
Phillips, R.A.3
Benedict, W.F.4
Godbout, R.5
Gallie, B.L.6
Murphree, A.L.7
Strong, L.C.8
White, R.L.9
-
4
-
-
0344671608
-
Functions of the retinoblastoma protein
-
Kaelin WG: Functions of the retinoblastoma protein. Bioessays 1999, 21: 950-958.
-
(1999)
Bioessays
, vol.21
, pp. 950-958
-
-
Kaelin, W.G.1
-
5
-
-
0033118160
-
Developmental basis of Retinal-specific induction of cancer by RB mutation
-
Gallie BL, Campbell CH, Devlin H, Duckett A, Squire JA: Developmental basis of Retinal-specific induction of cancer by RB mutation. Cancer Res 1999, 59: 1731s-1735s.
-
(1999)
Cancer Res.
, vol.59
-
-
Gallie, B.L.1
Campbell, C.H.2
Devlin, H.3
Duckett, A.4
Squire, J.A.5
-
6
-
-
2942574955
-
Cell-specific effects of Rb or RB/p107 loss on retinal development implicate an intrinsically death-resistant cell-of-origin in retinoblastoma
-
Chen D, Livne-bar T, Vanderluit JL, Slack RS, Agochiya M, Bremner R: Cell-specific effects of Rb or RB/p107 loss on retinal development implicate an intrinsically death-resistant cell-of-origin in retinoblastoma. Cancer Cell 2004, 5:539-551
-
(2004)
Cancer Cell
, vol.5
, pp. 539-551
-
-
Chen, D.1
Livne-Bar, T.2
Vanderluit, J.L.3
Slack, R.S.4
Agochiya, M.5
Bremner, R.6
-
7
-
-
3342996653
-
Retinoblastoma: Revisiting the model prototype of inherited cancer
-
Lohmann DR, Gallie BL: Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Gene. 2004, Part C, 129C:23-28
-
(2004)
Am. J. Med. Gene
, vol.129 C
, Issue.PART C
, pp. 23-28
-
-
Lohmann, D.R.1
Gallie, B.L.2
-
8
-
-
0015043748
-
Mutation and cancer. Statistical study of retinoblastoma
-
Knudson AG: Mutation and cancer. Statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971, 68: 820-823
-
(1971)
Proc. Natl. Acad. Sci. U.S.A.
, vol.68
, pp. 820-823
-
-
Knudson, A.G.1
-
9
-
-
0026754256
-
Patterns of risk of hereditary retinoblastoma and applications to genetic counseling
-
Draper GJ, Sanders PA, Brownbill, Hawkins MM: Patterns of risk of hereditary retinoblastoma and applications to genetic counseling. Br J Cancer 1992, 66: 211-219
-
(1992)
Br. J. Cancer
, vol.66
, pp. 211-219
-
-
Draper, G.J.1
Sanders, P.A.2
Brownbill, H.M.M.3
-
11
-
-
0034986542
-
Second primary tumors in hereditary retinoblastoma: A register-based study, 1945-1997
-
Moll AC, Imhof SM, Schouten-Van Meeteren AYN, Kuik DJ, Hofman P, Boers M: Second primary tumors in hereditary retinoblastoma: A register-based study, 1945-1997. Ophthalmology 2001, 108: 1109-1114.
-
(2001)
Ophthalmology
, vol.108
, pp. 1109-1114
-
-
Moll, A.C.1
Imhof, S.M.2
Schouten-Van Meeteren, A.Y.N.3
Kuik, D.J.4
Hofman, P.5
Boers, M.6
-
12
-
-
1542318327
-
Lifetime risks of common cancers among retinoblastoma survivors
-
Fletcher O, Easton D, Anderson K, Gilham C, Jay M, Peto J: Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst 2004, 96:357-363
-
(2004)
J. Natl. Cancer Inst.
, vol.96
, pp. 357-363
-
-
Fletcher, O.1
Easton, D.2
Anderson, K.3
Gilham, C.4
Jay, M.5
Peto, J.6
-
13
-
-
0031737407
-
Overview of RB gene mutations in patients with retinoblastoma
-
Harbour JW: Overview of RB gene mutations in patients with retinoblastoma. Ophthalmology 1998, 105:1442-1447
-
(1998)
Ophthalmology
, vol.105
, pp. 1442-1447
-
-
Harbour, J.W.1
-
14
-
-
0032882050
-
RB1 gene mutations in retinoblastoma
-
Link: RB1 gene mutation database
-
Lohmann DR: RB1 gene mutations in retinoblastoma. Hum Mutat 1999, 14: 283-288 Link: RB1 gene mutation database [http://www.d-lohmann.de/Rb/mutation.html]
-
(1999)
Hum. Mutat.
, vol.14
, pp. 283-288
-
-
Lohmann, D.R.1
-
15
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 update
-
Link: Human Gene Mutation Database-Statistics
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shield JA, Thomas NS, Abeysinghe S, KrawczakM, Cooper DN: Human Gene Mutation Database (HGMD): 2003 update. Human Mut 2003, 21:577-578 Link: Human Gene Mutation Database-Statistics [http://www.hgmd.org]
-
(2003)
Human Mut.
, vol.21
, pp. 577-578
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shield, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
16
-
-
27844466697
-
Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes
-
Cooper DN, Krawczak M: Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Hum Genet 1989,78: 151-155
-
(1989)
Hum. Genet.
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Krawczak, M.2
-
17
-
-
0030792795
-
Constitutively methylated CpG nucleotides as mutation hot spots in the retinoblastoma gene
-
Mancini D, Singh S, Ainsworth P and Rodenhiser D: Constitutively methylated CpG nucleotides as mutation hot spots in the retinoblastoma gene. Am J Hum Genet 1997, 61: 80-87
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 80-87
-
-
Mancini, D.1
Singh, S.2
Ainsworth, P.3
Rodenhiser, D.4
-
18
-
-
0029928102
-
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma
-
May
-
Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B: The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet. 1996 May;58(5):940-9.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, Issue.5
, pp. 940-949
-
-
Lohmann, D.R.1
Brandt, B.2
Hopping, W.3
Passarge, E.4
Horsthemke, B.5
-
19
-
-
2642601106
-
Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7
-
Lee J-O, Russo AA, Pavletich NP: Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7. Nature 1998, 391: 859-865.
-
(1998)
Nature
, vol.391
, pp. 859-865
-
-
Lee, J.-O.1
Russo, A.A.2
Pavletich, N.P.3
-
20
-
-
0030569351
-
Sequence specificity in CpG mutation hotspots
-
Ollila J, Lappalainen I, Vihinen M: Sequence specificity in CpG mutation hotspots. FEBS Lett. 1996, 396:119-122
-
(1996)
FEBS Lett.
, vol.396
, pp. 119-122
-
-
Ollila, J.1
Lappalainen, I.2
Vihinen, M.3
-
21
-
-
0036948404
-
Origins of spontaneous mutations: Specificity and directionality of base-substitutions, frameshift, and sequence-substitution mutagenesis
-
Maki H: Origins of spontaneous mutations: Specificity and directionality of base-substitutions, frameshift, and sequence-substitution mutagenesis. Annu. Rev. Genet 2002, 36:279-303.
-
(2002)
Annu. Rev. Genet.
, vol.36
, pp. 279-303
-
-
Maki, H.1
-
22
-
-
0032231701
-
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitutions in human genes
-
Krawczak M, Ball EV, Cooper DN: Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitutions in human genes. Am J Hum Genet 1998, 63: 474-488
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 474-488
-
-
Krawczak, M.1
Ball, E.V.2
Cooper, D.N.3
-
23
-
-
0037322272
-
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma
-
Richter S, Vandezande K, Chen N, Zhang K, Sutherland J, Anderson J, Han L, Panton R, Branco P, Gallie B: Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.Am J Hum Genet. 2003, 72(2):253-69.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, Issue.2
, pp. 253-269
-
-
Richter, S.1
Vandezande, K.2
Chen, N.3
Zhang, K.4
Sutherland, J.5
Anderson, J.6
Han, L.7
Panton, R.8
Branco, P.9
Gallie, B.10
-
24
-
-
10744228566
-
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF
-
Houdayer C, Gauthier-Villars M, Lauge A, Pages-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Hum Mutat. 2004, 23(2):193-202.
-
(2004)
Hum. Mutat.
, vol.23
, Issue.2
, pp. 193-202
-
-
Houdayer, C.1
Gauthier-Villars, M.2
Lauge, A.3
Pages-Berhouet, S.4
Dehainault, C.5
Caux-Moncoutier, V.6
Karczynski, P.7
Tosi, M.8
Doz, F.9
Desjardins, L.10
Couturier, J.11
Stoppa-Lyonnet, D.12
-
27
-
-
0035036246
-
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients. Phenotypic and molecular epidemiological implications
-
Alonso J, Mendiola M, García-Miguel P, Abelairas J, Sarret E, Vendrell T, Navajas A. Pestaña A: Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients. Phenotypic and molecular epidemiological implications. Hum Mutat 2001, 17: 412-422.
-
(2001)
Hum. Mutat.
, vol.17
, pp. 412-422
-
-
Alonso, J.1
Mendiola, M.2
García-Miguel, P.3
Abelairas, J.4
Sarret, E.5
Vendrell, T.6
Navajas, A.7
Pestaña, A.8
-
28
-
-
0034762772
-
Molecular basis of low-penetrance retinoblastoma
-
Harbour JW: Molecular basis of low-penetrance retinoblastoma. Arch Ophthalmol 2001, 119: 1699-1704
-
(2001)
Arch. Ophthalmol.
, vol.119
, pp. 1699-1704
-
-
Harbour, J.W.1
-
29
-
-
0025900744
-
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene
-
Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP: Oncogenic germ-line 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
-
30
-
-
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
-
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, 12:431-436
-
(1996)
Oncogene
, vol.12
, pp. 431-436
-
-
Cowell, J.K.1
Bia, B.2
Akoulitchev, A.3
-
31
-
-
0033358572
-
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families
-
Otterson GA, Modi S, Nguyen K, Coxon AB and Kaye FJ: Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. Am J Hum Genet 1999, 65:1040-1046
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1040-1046
-
-
Otterson, G.A.1
Modi, S.2
Nguyen, K.3
Coxon, A.B.4
Kaye, F.J.5
-
32
-
-
0027379124
-
Molecular etiology of low-penetrance retinoblastoma in two pedigrees
-
Jun
-
Dryja TP, Rapaport J, McGee TL, Nork TM, Schwartz TL: Molecular etiology of low-penetrance retinoblastoma in two pedigreesAm J Hum Genet. 1993 Jun;52(6):1122-8.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, Issue.6
, pp. 1122-1128
-
-
Dryja, T.P.1
Rapaport, J.2
McGee, T.L.3
Nork, T.M.4
Schwartz, T.L.5
-
33
-
-
0030827081
-
Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma
-
Bremner R, Du DC, Connolly-Wilson MJ, Bridge P, Ahmad KF, Mostachfi H, Rushlow D, Dunn JM, Gallie BL.Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. Am J Hum Genet 1997, 61:556-70.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 556-570
-
-
Bremner, R.1
Du, D.C.2
Connolly-Wilson, M.J.3
Bridge, P.4
Ahmad, K.F.5
Mostachfi, H.6
Rushlow, D.7
Dunn, J.M.8
Gallie, B.L.9
-
34
-
-
0031410720
-
A splicing mutation in RB1 in low penetrance retinoblastoma
-
Schubert EL and Strong LC: A splicing mutation in RB1 in low penetrance retinoblastoma. Hum Genet 1997, 100: 557-563.
-
(1997)
Hum. Genet.
, vol.100
, pp. 557-563
-
-
Schubert, E.L.1
Strong, L.C.2
-
35
-
-
0036580747
-
A T to C mutation in the polypyrimidine tract of the exon 9 splicing site ofthe RB1 gene responsible for low penetrance hereditary retinoblastoma
-
Lefevre SH, Chauveinc L, Stoppa-Lyonnet D, Michon J, Lumbroso L, Berthet P, Frappaz D, Dutrillaux B, Chevillard S, Malfoy B: A T to C mutation in the polypyrimidine tract of the exon 9 splicing site ofthe RB1 gene responsible for low penetrance hereditary retinoblastoma. J Med Genet 2002, 39(5):E21
-
(2002)
J. Med. Genet.
, vol.39
, Issue.5
-
-
Lefevre, S.H.1
Chauveinc, L.2
Stoppa-Lyonnet, D.3
Michon, J.4
Lumbroso, L.5
Berthet, P.6
Frappaz, D.7
Dutrillaux, B.8
Chevillard, S.9
Malfoy, B.10
-
36
-
-
0026318471
-
A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm
-
Weir-Thompson E, Condie A, Leonard RC, Prosser J: A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm. Oncogene 1991, 6:2353-2356.
-
(1991)
Oncogene
, vol.6
, pp. 2353-2356
-
-
Weir-Thompson, E.1
Condie, A.2
Leonard, R.C.3
Prosser, J.4
-
37
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB and Senepathy P: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl Acid Res 1987, 15: 7155-7177
-
(1987)
Nucl. Acid Res.
, vol.15
, pp. 7155-7177
-
-
Shapiro, M.B.1
Senepathy, P.2
-
38
-
-
0036302134
-
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene
-
Klutz M, Brockmann 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, 71:174-179.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 174-179
-
-
Klutz, M.1
Brockmann, D.2
Lohmann, D.R.3
-
39
-
-
0026721945
-
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype
-
Onadim Z, Hogg A, Baird PN, Cowell JK: Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci U S A 1992, 89(13):6177-6181.
-
(1992)
Proc. Natl. Acad. Sci. U. S. A.
, vol.89
, Issue.13
, pp. 6177-6181
-
-
Onadim, Z.1
Hogg, A.2
Baird, P.N.3
Cowell, J.K.4
-
40
-
-
0033987736
-
Mutation nomenclature estensions and suggestions to describe complex mutations: A discussion
-
Dunnen JT, Antonarakis SE: Mutation nomenclature estensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 15:7-12
-
(2000)
Hum. Mutat.
, vol.15
, pp. 7-12
-
-
Dunnen, J.T.1
Antonarakis, S.E.2
-
41
-
-
27844458946
-
-
MySQL
-
MySQL [http://www.mysql.com/]
-
-
-
-
42
-
-
27844553328
-
-
PHP
-
PHP [http://www.php.net/]
-
-
-
-
43
-
-
27844574676
-
-
JavaScript Kit
-
JavaScript Kit [http://javascriptkit.com/]
-
-
-
-
44
-
-
27844506958
-
-
FPDF Library
-
FPDF Library [http://www.fpdf.org/]
-
-
-
-
45
-
-
27844442600
-
-
Retinoblastoma gene mutation database (RBGMdb)
-
Retinoblastoma gene mutation database (RBGMdb) [http://www.es.embnet.org/Services/MolBio/rbgmdb/idx.html]
-
-
-
-
46
-
-
27844528352
-
-
UK Human Genome Mapping Project
-
UK Human Genome Mapping Project [http://www.hgmp.mrc.ac.uk/]
-
-
-
-
47
-
-
0027288912
-
The role of exon sequences in splice site selection
-
Watakabe A, Tanaka K, Shimura Y The role of exon sequences in splice site selection, Genes Dev. 1993, 7(3):407-18
-
(1993)
Genes Dev.
, vol.7
, Issue.3
, pp. 407-418
-
-
Watakabe, A.1
Tanaka, K.2
Shimura, Y.3
|