-
1
-
-
0027935208
-
Unilateral retinoblastoma: New intraocular tumours after treatment
-
Abramson DH, Gamell LS, Ellsworth RM, Kruger EF, Servodidio CA, Turner L, Sussman D (1994) Unilateral retinoblastoma: new intraocular tumours after treatment. Br J Oph-thalmol 78:698-701
-
(1994)
Br J Oph-thalmol
, vol.78
, pp. 698-701
-
-
Abramson, D.H.1
Gamell, L.S.2
Ellsworth, R.M.3
Kruger, E.F.4
Servodidio, C.A.5
Turner, L.6
Sussman, D.7
-
2
-
-
0029848852
-
Update on nomenclature for human gene mutations
-
Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
-
(1996)
Hum Mutat
, vol.8
, pp. 197-202
-
-
-
3
-
-
0027279891
-
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing
-
Blanquet V, Turleau C, Gross MS, Goossens M, Besmond C (1993) Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing. Hum Mol Genet 2:975-979
-
(1993)
Hum Mol Genet
, vol.2
, pp. 975-979
-
-
Blanquet, V.1
Turleau, C.2
Gross, M.S.3
Goossens, M.4
Besmond, C.5
-
4
-
-
0028907719
-
Spectrum of germline mutations in the RB1 gene: A study of 232 patients with hereditary and non hereditary retinoblastoma
-
Blanquet V, Turleau C, Gross-Morand S, Sénamaud-Beaufort C, Doz F, Besmond C (1995) Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet 4:383-388
-
(1995)
Hum Mol Genet
, vol.4
, pp. 383-388
-
-
Blanquet, V.1
Turleau, C.2
Gross-Morand, S.3
Sénamaud-Beaufort, C.4
Doz, F.5
Besmond, C.6
-
5
-
-
0027963492
-
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
-
Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T (1994) A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55:69-73
-
(1994)
Am J Hum Genet
, vol.55
, pp. 69-73
-
-
Bourn, D.1
Carter, S.A.2
Evans, D.G.R.3
Goodship, J.4
Coakham, H.5
Strachan, T.6
-
6
-
-
0028104109
-
Sp1 elements protect a CpG island from de novo methylation
-
Brandeis M, Frank D, Keshet I, Siegfried Z, Mendelsohn M, Nemes A, Temper V, et al (1994) Sp1 elements protect a CpG island from de novo methylation. Nature 371:435-438
-
(1994)
Nature
, vol.371
, pp. 435-438
-
-
Brandeis, M.1
Frank, D.2
Keshet, I.3
Siegfried, Z.4
Mendelsohn, M.5
Nemes, A.6
Temper, V.7
-
7
-
-
0026715571
-
A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene
-
Brandt B, Greger V, Yandell D, Passarge E, Horsthemke B (1992) A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene. Am J Hum Genet 51:1450-1451
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1450-1451
-
-
Brandt, B.1
Greger, V.2
Yandell, D.3
Passarge, E.4
Horsthemke, B.5
-
9
-
-
0027402372
-
Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
-
Brown S, Gersen S, Anyane-Yeoba K, Warburton D (1993) Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59
-
(1993)
Am J Med Genet
, vol.45
, pp. 52-59
-
-
Brown, S.1
Gersen, S.2
Anyane-Yeoba, K.3
Warburton, D.4
-
11
-
-
0024533039
-
Frequency of 13q abnormalities among 203 patients with retinoblastoma
-
Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond GD (1989) Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst 81:370-374
-
(1989)
J Natl Cancer Inst
, vol.81
, pp. 370-374
-
-
Bunin, G.R.1
Emanuel, B.S.2
Meadows, A.T.3
Buckley, J.D.4
Woods, W.G.5
Hammond, G.D.6
-
12
-
-
0018653413
-
Mutational mosaicism and genetic counseling in retinoblastoma
-
Carlson EA, Desnick RJ (1979) Mutational mosaicism and genetic counseling in retinoblastoma. Am J Med Genet 4: 365-381
-
(1979)
Am J Med Genet
, vol.4
, pp. 365-381
-
-
Carlson, E.A.1
Desnick, R.J.2
-
13
-
-
0020518746
-
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
-
Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, et al (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 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
-
14
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium
-
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium. Anal Biochem 162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
15
-
-
0030070963
-
Somatic mosaicism in a patient with neurofibromatosis type 1
-
Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR (1996) Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 58:484-490
-
(1996)
Am J Hum Genet
, vol.58
, pp. 484-490
-
-
Colman, S.D.1
Rasmussen, S.A.2
Ho, V.T.3
Abernathy, C.R.4
Wallace, M.R.5
-
16
-
-
0029671147
-
A novel mutation in the promoter 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 (1996) A novel mutation in the promoter region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene. Oncogene 12:431-436
-
(1996)
Oncogene
, vol.12
, pp. 431-436
-
-
Cowell, J.K.1
Bia, B.2
Akoulitchev, A.3
-
17
-
-
0030248583
-
Constitutional nonsense germline mutations in the RB1 gene detected in patients with early onset unilateral retinoblastoma
-
Cowell JK, Cragg H (1996) Constitutional nonsense germline mutations in the RB1 gene detected in patients with early onset unilateral retinoblastoma. Eur J Cancer 32A:1749-1752
-
(1996)
Eur J Cancer
, vol.32 A
, pp. 1749-1752
-
-
Cowell, J.K.1
Cragg, H.2
-
18
-
-
0028072017
-
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma
-
Cowell JK, Smith T, Bia B (1994) Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. Eur J Hum Genet 2:281-290
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 281-290
-
-
Cowell, J.K.1
Smith, T.2
Bia, B.3
-
19
-
-
0026754256
-
Patterns of risk of hereditary retinoblastoma and applications to genetic counselling
-
Draper GJ, Sanders BM, Brownbill PA, Hawkins MM (1992) Patterns of risk of hereditary retinoblastoma and applications to genetic counselling. Br J Cancer 66:211-219
-
(1992)
Br J Cancer
, vol.66
, pp. 211-219
-
-
Draper, G.J.1
Sanders, B.M.2
Brownbill, P.A.3
Hawkins, M.M.4
-
20
-
-
0027379124
-
Molecular etiology of low-penetrance retinoblastoma in two pedigrees
-
Dryja TP, Rapaport J, McGee TL, Nork TM, Schwartz TL (1993) Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am J Hum Genet 52:1122-1128
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1122-1128
-
-
Dryja, T.P.1
Rapaport, J.2
McGee, T.L.3
Nork, T.M.4
Schwartz, T.L.5
-
21
-
-
0024326193
-
Mutations in the RB1 gene and their effects on transcription
-
Dunn JM, Phillips RA, Zhu X, Becker A, Gallie BL (1989) Mutations in the RB1 gene and their effects on transcription. Mol Cell Biol 9:4596-4604
-
(1989)
Mol Cell Biol
, vol.9
, pp. 4596-4604
-
-
Dunn, J.M.1
Phillips, R.A.2
Zhu, X.3
Becker, A.4
Gallie, B.L.5
-
22
-
-
0023766585
-
Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients
-
Ejima Y, Sasaki MS, Kaneko A, Tanooka H (1988) Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients. Hum Genet 79: 118-123
-
(1988)
Hum Genet
, vol.79
, pp. 118-123
-
-
Ejima, Y.1
Sasaki, M.S.2
Kaneko, A.3
Tanooka, H.4
-
23
-
-
0022506980
-
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
-
Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323:643-646
-
(1986)
Nature
, vol.323
, pp. 643-646
-
-
Friend, S.H.1
Bernards, R.2
Rogelj, S.3
Weinberg, R.A.4
Rapaport, J.M.5
Albert, D.M.6
Dryja, T.P.7
-
24
-
-
0023222707
-
Structural evidence for the authenticity of the human retinoblastoma gene
-
Fung YKT, Murphree AL, T'Ang A, Qian J, Hinrichs SH, Benedict WF (1987) Structural evidence for the authenticity of the human retinoblastoma gene. Science 236:1657-1661
-
(1987)
Science
, vol.236
, pp. 1657-1661
-
-
Fung, Y.K.T.1
Murphree, A.L.2
T'Ang, A.3
Qian, J.4
Hinrichs, S.H.5
Benedict, W.F.6
-
25
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
26
-
-
0027962591
-
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma
-
Greger V, Debus N, Lohmann D, Höpping W, Passarge E, Horsthemke B (1994) Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma. Hum Genet 94:491-496
-
(1994)
Hum Genet
, vol.94
, pp. 491-496
-
-
Greger, V.1
Debus, N.2
Lohmann, D.3
Höpping, W.4
Passarge, E.5
Horsthemke, B.6
-
27
-
-
0023885824
-
Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma
-
Greger V, Kerst S, Messmer E, Höpping W, Passarge E, Horsthemke B (1988) Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma. J Med Genet 25:217-221
-
(1988)
J Med Genet
, vol.25
, pp. 217-221
-
-
Greger, V.1
Kerst, S.2
Messmer, E.3
Höpping, W.4
Passarge, E.5
Horsthemke, B.6
-
28
-
-
0025323622
-
Somatic mosaicism in a patient with bilateral retinoblastoma
-
Greger V, Passarge E, Horsthemke B (1990) Somatic mosaicism in a patient with bilateral retinoblastoma. Am J Hum Genet 46:1187-1193
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1187-1193
-
-
Greger, V.1
Passarge, E.2
Horsthemke, B.3
-
29
-
-
0024365892
-
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma
-
Greger V, Passarge E, Höpping W, Messmer E, Horsthemke B (1989) Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet 83:155-158
-
(1989)
Hum Genet
, vol.83
, pp. 155-158
-
-
Greger, V.1
Passarge, E.2
Höpping, W.3
Messmer, E.4
Horsthemke, B.5
-
30
-
-
0023754181
-
Somatic mosaicism: Observations related to clinical genetics
-
Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43:355-363
-
(1988)
Am J Hum Genet
, vol.43
, pp. 355-363
-
-
Hall, J.G.1
-
31
-
-
0029843950
-
Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands
-
Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB (1996) Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93:9821-9826
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 9821-9826
-
-
Herman, J.G.1
Graff, J.R.2
Myohanen, S.3
Nelkin, B.D.4
Baylin, S.B.5
-
32
-
-
0017063192
-
Delayed mutation as a cause of retinoblastoma: Application to genetic counseling
-
Herrmann J (1976) Delayed mutation as a cause of retinoblastoma: application to genetic counseling. Birth Defects 12: 79-90
-
(1976)
Birth Defects
, vol.12
, pp. 79-90
-
-
Herrmann, J.1
-
33
-
-
0027297105
-
Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma
-
Hogg A, Bia B, Onadim Z, Cowell JK (1993) Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. Proc Natl Acad Sci USA 90:7351-7355
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 7351-7355
-
-
Hogg, A.1
Bia, B.2
Onadim, Z.3
Cowell, J.K.4
-
34
-
-
0026718136
-
Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing
-
Hogg A, Onadim Z, Baird PN, Cowell JK (1992) Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing. Oncogene 7:1445-1451
-
(1992)
Oncogene
, vol.7
, pp. 1445-1451
-
-
Hogg, A.1
Onadim, Z.2
Baird, P.N.3
Cowell, J.K.4
-
35
-
-
0027305002
-
Loss of heterozygosity on chromosome 13 and its association with delayed growth of retinoblastoma
-
Kato MV, Ishizaki K, Ejima Y, Kaneko A, Tanooka H, Sasaki MS (1993) Loss of heterozygosity on chromosome 13 and its association with delayed growth of retinoblastoma. Int J Cancer 54:922-926
-
(1993)
Int J Cancer
, vol.54
, pp. 922-926
-
-
Kato, M.V.1
Ishizaki, K.2
Ejima, Y.3
Kaneko, A.4
Tanooka, H.5
Sasaki, M.S.6
-
36
-
-
0028906836
-
Delayed development of retinoblastoma associated with loss of a maternal allele on chromosome 13
-
Kato MV, Ishizaki K, Shimizu T, Toguchida J, Kaneko A, Sasaki MS (1995) Delayed development of retinoblastoma associated with loss of a maternal allele on chromosome 13. Int J Cancer 64:3-8
-
(1995)
Int J Cancer
, vol.64
, pp. 3-8
-
-
Kato, M.V.1
Ishizaki, K.2
Shimizu, T.3
Toguchida, J.4
Kaneko, A.5
Sasaki, M.S.6
-
37
-
-
0028097692
-
Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma
-
Kato MV, Ishizaki K, Toguchida J, Kaneko A, Takayama J, Tanooka H, Kato T, et al (1994) Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma. Hum Mutat 3:44-51
-
(1994)
Hum Mutat
, vol.3
, pp. 44-51
-
-
Kato, M.V.1
Ishizaki, K.2
Toguchida, J.3
Kaneko, A.4
Takayama, J.5
Tanooka, H.6
Kato, T.7
-
38
-
-
0029998089
-
Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma
-
Kato MV, Shimizu T, Nagayoshi M, Kaneko A, Sasaki MS, Ikawa Y (1996) Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. Am J Hum Genet 59:1084-1090
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1084-1090
-
-
Kato, M.V.1
Shimizu, T.2
Nagayoshi, M.3
Kaneko, A.4
Sasaki, M.S.5
Ikawa, Y.6
-
39
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
-
(1971)
Proc Natl Acad Sci USA
, vol.68
, pp. 820-823
-
-
Knudson, A.G.1
-
40
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
41
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
Kunkel LM, Smith KD, Boyer SH, Borgaonkor DS, Wachtel SS, Miller OJ, Breg WR (1977) Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1249
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
Borgaonkor, D.S.4
Wachtel, S.S.5
Miller, O.J.6
Breg, W.R.7
-
42
-
-
0023790391
-
Mutagenesis by transient misalignment
-
Kunkel TA, Soni A (1988) Mutagenesis by transient misalignment. J Biol Chem 263:14784-14789
-
(1988)
J Biol Chem
, vol.263
, pp. 14784-14789
-
-
Kunkel, T.A.1
Soni, A.2
-
43
-
-
0028031046
-
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
-
Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B (1994a) Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet 94:491-496
-
(1994)
Hum Genet
, vol.94
, pp. 491-496
-
-
Lohmann, D.R.1
Brandt, B.2
Hopping, W.3
Passarge, E.4
Horsthemke, B.5
-
44
-
-
0028604343
-
Spectrum of small length germline mutations in the RB1 gene
-
_ (1994b) Spectrum of small length germline mutations in the RB1 gene. Hum Mol Genet 3:2187-2193
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2187-2193
-
-
-
45
-
-
0029928102
-
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma
-
_ (1996) The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet 58:940-949
-
(1996)
Am J Hum Genet
, vol.58
, pp. 940-949
-
-
-
46
-
-
0027960055
-
Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island
-
Macleod D, Charlton J, Mullins J, Bird AP (1994) Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island. Genes Dev 8:2282-2292
-
(1994)
Genes Dev
, vol.8
, pp. 2282-2292
-
-
Macleod, D.1
Charlton, J.2
Mullins, J.3
Bird, A.P.4
-
47
-
-
0017079596
-
Hereditary retinoblastoma: Penetrance, expressivity and age of onset
-
Matsunaga E (1976) Hereditary retinoblastoma: penetrance, expressivity and age of onset. Hum Genet 33:1-15
-
(1976)
Hum Genet
, vol.33
, pp. 1-15
-
-
Matsunaga, E.1
-
48
-
-
0018935497
-
- chromosomal deletion
-
- chromosomal deletion. Hum Genet 56:53-58
-
(1980)
Hum Genet
, vol.56
, pp. 53-58
-
-
-
49
-
-
0029845659
-
Three histopathological types of retinoblastoma and their relation to heredity and age of enucleation
-
Moll AC, Koten JW, Lindenmayer DAE, Everse LA, Tan K, Hamburg A, Faber JAJ, et al (1996) Three histopathological types of retinoblastoma and their relation to heredity and age of enucleation. J Med Genet 33:923-927
-
(1996)
J Med Genet
, vol.33
, pp. 923-927
-
-
Moll, A.C.1
Koten, J.W.2
Lindenmayer, D.A.E.3
Everse, L.A.4
Tan, K.5
Hamburg, A.6
Faber, J.A.J.7
-
50
-
-
0028566120
-
Radial asymmetry in the topography of retinoblastoma: Clues to the cell of origin
-
Munier FL, Balmer A, Van Melle G (1994) Radial asymmetry in the topography of retinoblastoma: clues to the cell of origin. Ophthalmic Genet 15:101-106
-
(1994)
Ophthalmic Genet
, vol.15
, pp. 101-106
-
-
Munier, F.L.1
Balmer, A.2
Van Melle, G.3
-
51
-
-
0023216157
-
A simplified scheme for genetic counseling in retinoblastoma
-
Musarella MA, Gallie BL (1987) A simplified scheme for genetic counseling in retinoblastoma. J Pediatr Ophthalmol Strabismus 24:124-125
-
(1987)
J Pediatr Ophthalmol Strabismus
, vol.24
, pp. 124-125
-
-
Musarella, M.A.1
Gallie, B.L.2
-
52
-
-
0028222873
-
Construction of a novel database containing aberrant splicing mutations of mammalian genes
-
Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177
-
(1994)
Gene
, vol.141
, pp. 171-177
-
-
Nakai, K.1
Sakamoto, H.2
-
53
-
-
0029814661
-
Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma
-
Noorani HZ, Khan HN, Gallie BL, Detsky AS (1996) Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet 59: 301-307
-
(1996)
Am J Hum Genet
, vol.59
, pp. 301-307
-
-
Noorani, H.Z.1
Khan, H.N.2
Gallie, B.L.3
Detsky, A.S.4
-
54
-
-
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 (1992) 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 USA 89: 6177-6181
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6177-6181
-
-
Onadim, Z.1
Hogg, A.2
Baird, P.N.3
Cowell, J.K.4
-
56
-
-
0025630591
-
Frameshift mutations: Determinants of specificity
-
Ripley LS (1990) Frameshift mutations: determinants of specificity. Annu Rev Genet 24:189-213
-
(1990)
Annu Rev Genet
, vol.24
, pp. 189-213
-
-
Ripley, L.S.1
-
57
-
-
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 (1991a) Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 353:83-86
-
(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
-
58
-
-
0025891856
-
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene
-
Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP (1991b) Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet 48:880-888
-
(1991)
Am J Hum Genet
, vol.48
, pp. 880-888
-
-
Sakai, T.1
Toguchida, J.2
Ohtani, N.3
Yandell, D.W.4
Rapaport, J.M.5
Dryja, T.P.6
-
59
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
60
-
-
0028268523
-
Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis
-
Shimizu T, Toguchida J, Kato MV, Kaneko A, Ishizaki K, Sasaki MS (1994) Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis. Am J Hum Genet 54:793-800
-
(1994)
Am J Hum Genet
, vol.54
, pp. 793-800
-
-
Shimizu, T.1
Toguchida, J.2
Kato, M.V.3
Kaneko, A.4
Ishizaki, K.5
Sasaki, M.S.6
-
61
-
-
0029125296
-
Inherited breast and ovarian cancer
-
Szabo CI, King MC (1995) Inherited breast and ovarian cancer. Hum Mol Genet 5:1811-1817
-
(1995)
Hum Mol Genet
, vol.5
, pp. 1811-1817
-
-
Szabo, C.I.1
King, M.C.2
-
62
-
-
0025245371
-
Effect of 5′ splice site mutations on splicing of the preceding intron
-
Talerico M, Berget SM (1990) Effect of 5′ splice site mutations on splicing of the preceding intron. Mol Cell Biol 10:6299-6305
-
(1990)
Mol Cell Biol
, vol.10
, pp. 6299-6305
-
-
Talerico, M.1
Berget, S.M.2
-
63
-
-
0027251051
-
Complete genomic sequence of the human retinoblastoma susceptibility gene
-
Toguchida J, McGee TL, Paterson JC, Eagle JR, Tucker S, Yandell DW, Dryja TP (1993) Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 17:535-543
-
(1993)
Genomics
, vol.17
, pp. 535-543
-
-
Toguchida, J.1
McGee, T.L.2
Paterson, J.C.3
Eagle, J.R.4
Tucker, S.5
Yandell, D.W.6
Dryja, T.P.7
-
64
-
-
0018642114
-
Genetics of retinoblastoma
-
Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52: 1-54
-
(1979)
Hum Genet
, vol.52
, pp. 1-54
-
-
Vogel, F.1
-
65
-
-
0002538655
-
Sample preparation from paraffin-embedded tissues
-
Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) Academic Press, San Diego
-
Wright DK, Manos MM (1990) Sample preparation from paraffin-embedded tissues. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) PCR protocols: a guide to methods and applications. Academic Press, San Diego, pp 153-158
-
(1990)
PCR Protocols: A Guide to Methods and Applications
, pp. 153-158
-
-
Wright, D.K.1
Manos, M.M.2
-
66
-
-
0024835010
-
Oncogenic point mutations in the human retinoblastoma gene: Their application to genetic counseling
-
Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, et al (1989) Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med 321:1689-1695
-
(1989)
N Engl J Med
, vol.321
, pp. 1689-1695
-
-
Yandell, D.W.1
Campbell, T.A.2
Dayton, S.H.3
Petersen, R.4
Walton, D.5
Little, J.B.6
McConkie-Rosell, A.7
-
67
-
-
0024422006
-
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing
-
Yandell DW, Dryja TP (1989) Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet 45:547-555
-
(1989)
Am J Hum Genet
, vol.45
, pp. 547-555
-
-
Yandell, D.W.1
Dryja, T.P.2
-
68
-
-
85030293651
-
Penetrance of RB gene mutations: Two families with a low-penetrance form of hereditary retinoblastoma carry the same missense mutation
-
Yandell DW, Herrera GE, Dayton SH, Dryja TP, Ludeke BI (1991) Penetrance of RB gene mutations: two families with a low-penetrance form of hereditary retinoblastoma carry the same missense mutation. Am J Hum Genet Suppl 49: A45
-
(1991)
Am J Hum Genet Suppl
, vol.49
-
-
Yandell, D.W.1
Herrera, G.E.2
Dayton, S.H.3
Dryja, T.P.4
Ludeke, B.I.5
-
69
-
-
0026529765
-
Mechanisms of loss of heterozygosity in retinoblastoma
-
Zhu X, Dunn JM, Goddard AD, Squire JA, Becker A, Phillips RA, Gallie BL (1992) Mechanisms of loss of heterozygosity in retinoblastoma. Cytogenet Cell Genet 59:248-252
-
(1992)
Cytogenet Cell Genet
, vol.59
, pp. 248-252
-
-
Zhu, X.1
Dunn, J.M.2
Goddard, A.D.3
Squire, J.A.4
Becker, A.5
Phillips, R.A.6
Gallie, B.L.7
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