메뉴 건너뛰기




Volumn 19, Issue 5, 2002, Pages 370-374

Low-penetrance retinoblastoma due to exons 24 and 25 deletions in the Rb1 gen

Author keywords

Deletion; Mutation; Penetrance; Rb1 gene; Retinoblastoma

Indexed keywords

CHARACTERIZATION; CLONING; DNA; GENES; MUTAGENESIS; PROTEINS; TUMORS;

EID: 0036797176     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (14)
  • 1
    • 0002500472 scopus 로고
    • Retinoblastoma: For the next generation
    • Cowell J. ed. London: Bios Scientific
    • Gallie BL, Hei YJ, Dunn JM, et al. Retinoblastoma: for the next generation. In: Cowell J. ed. Cancer Genetics. London: Bios Scientific, 1995. 29.
    • (1995) Cancer Genetics , pp. 29
    • Gallie, B.L.1    Hei, Y.J.2    Dunn, J.M.3
  • 2
    • 0021015399 scopus 로고
    • Familal, EsD-linked retinoblastoma with reduce penetrance and variable expressivity
    • Connolly MJ, Payne RH, Johnson G, et al. Familal, EsD-linked retinoblastoma with reduce penetrance and variable expressivity. Hum Genet, 1983, 65: 122-124.
    • (1983) Hum Genet , vol.65 , pp. 122-124
    • Connolly, M.J.1    Payne, R.H.2    Johnson, G.3
  • 3
    • 0026721945 scopus 로고
    • Oncogenic point mutaions 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, et al. Oncogenic point mutaions 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: 6177-6181.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 6177-6181
    • Onadim, Z.1    Hogg, A.2    Baird, P.N.3
  • 4
    • 0026757785 scopus 로고
    • Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
    • Munier FL, Spence MA, Pescia G, et al. Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene. Hum Genet, 1992, 89: 508-512.
    • (1992) Hum Genet , vol.89 , pp. 508-512
    • Munier, F.L.1    Spence, M.A.2    Pescia, G.3
  • 5
    • 0020024898 scopus 로고
    • Retinoma: Spontaneous regression of retinoblastoma or benign manifestation of the mutation?
    • Gallie BL, Ellsworth RM, Abramson DH, et al. Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer, 1982, 45: 518-521.
    • (1982) Br J Cancer , vol.45 , pp. 518-521
    • Gallie, B.L.1    Ellsworth, R.M.2    Abramson, D.H.3
  • 6
    • 0032794463 scopus 로고    scopus 로고
    • Detection of RB1 mutations by using quantitative fluorescent multiplex PCR
    • Du C, Brenda LG. Detection of RB1 mutations by using quantitative fluorescent multiplex PCR. Chin J Med Genet, 1999, 16: 386-389.
    • (1999) Chin J Med Genet , vol.16 , pp. 386-389
    • Du, C.1    Brenda, L.G.2
  • 7
    • 0028211009 scopus 로고
    • PCR amplification of up to 35 kb DNA with high fidelity and high yield from bacteriophage terplates
    • Barnes WM. PCR amplification of up to 35 kb DNA with high fidelity and high yield from bacteriophage terplates. Proc Natl Acad Sci U S A, 1994, 91: 2216-2220.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 2216-2220
    • Barnes, W.M.1
  • 8
    • 0028261194 scopus 로고
    • Effective amplification of long targets from cloned inserts and human genomic DNA
    • Cheng S, Fockler C, Barnes WM, et al. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci U S A, 1994, 91: 5695-5699.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 5695-5699
    • Cheng, S.1    Fockler, C.2    Barnes, W.M.3
  • 9
    • 0021015399 scopus 로고
    • Retinoblastoma with reduced penetrance and variable expressivity
    • Connolly MJ, Payne RH, Johnson G, et al. Retinoblastoma with reduced penetrance and variable expressivity. Hum Genet, 1983, 65: 122-124.
    • (1983) Hum Genet , vol.65 , pp. 122-124
    • Connolly, M.J.1    Payne, R.H.2    Johnson, G.3
  • 10
    • 0028031046 scopus 로고
    • Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
    • Lohmann DR, Brandt B, Hopping W, et al. Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet, 1994, 94: 349-354.
    • (1994) Hum Genet , vol.94 , pp. 349-354
    • Lohmann, D.R.1    Brandt, B.2    Hopping, W.3
  • 11
    • 0024326193 scopus 로고
    • Mutations in the RB1 gene and their effects on transcription
    • Dunn JM, Phillips RA, Zhu X, et al. Mutations in the RB1 gene and their effects on transcription. Mol Cell Biol, 1989, 9: 4596-4604.
    • (1989) Mol Cell Biol , vol.9 , pp. 4596-4604
    • Dunn, J.M.1    Phillips, R.A.2    Zhu, X.3
  • 12
    • 0028339957 scopus 로고
    • Reversal of terminal differentiation mediated by p107 in Rb-/-muscle cells
    • Schneider JW, Gu W, Zhu L, et al. Reversal of terminal differentiation mediated by p107 in Rb-/-muscle cells. Science, 1994, 264: 1467-1471.
    • (1994) Science , vol.264 , pp. 1467-1471
    • Schneider, J.W.1    Gu, W.2    Zhu, L.3
  • 13
    • 0025900744 scopus 로고
    • Oncogenic germ-line mutation of Sp1 and ATF sites in the human retinoblastoma gene
    • Sakai T, Ohtani N, McGee TL, et al. Oncogenic germ-line mutation of Sp1 and ATF sites in the human retinoblastoma gene. Nature, 1991, 353: 83-86.
    • (1991) Nature , vol.353 , pp. 83-86
    • Sakai, T.1    Ohtani, N.2    McGee, T.L.3
  • 14
    • 0027142956 scopus 로고
    • Isolation of the Rb-related p130 through its interaction with CDK2 and cyclins
    • Hannon GJ, Demetrick D, Beach D, et al. Isolation of the Rb-related p130 through its interaction with CDK2 and cyclins, Genes Dev, 1993, 7: 2378-2391.
    • (1993) Genes Dev , vol.7 , pp. 2378-2391
    • Hannon, G.J.1    Demetrick, D.2    Beach, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.