메뉴 건너뛰기




Volumn 167, Issue 1, 2006, Pages 43-46

A molecular study of first and second RB1 mutational hits in retinoblastoma patients

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; RETINOBLASTOMA PROTEIN;

EID: 33646196839     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2005.08.017     Document Type: Article
Times cited : (19)

References (24)
  • 1
    • 0015043748 scopus 로고
    • Mutation and cancer: statistical study of retinoblastoma
    • Knudson Jr. A.G. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68 (1971) 820-823
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 2
    • 0023774454 scopus 로고
    • Predicting the risk of hereditary retinoblastoma
    • Wiggs J.L., and Dryja T.P. Predicting the risk of hereditary retinoblastoma. Am J Ophtamol 106 (1988) 346-351
    • (1988) Am J Ophtamol , vol.106 , pp. 346-351
    • Wiggs, J.L.1    Dryja, T.P.2
  • 3
  • 6
    • 0027297105 scopus 로고
    • Molecular mechanism of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma
    • Hogg A., Bia B., Onadim Z., and Cowell J.K. Molecular mechanism of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. Proc Natl Acad Sci USA 90 (1993) 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
  • 7
    • 0026721945 scopus 로고
    • Oncegenic point mutation in exon 20 of the RB1 gene in families showing incomplete penetrance of mild expression of the retinoblastoma phenotype
    • Onadim Z., Hogg A., Baird P.N., and Cowell J.K. Oncegenic point mutation in exon 20 of the RB1 gene in families showing incomplete penetrance of mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci USA 89 (1992) 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
  • 8
    • 0027428717 scopus 로고
    • Mechanisms of oncogenesis in patient with familial retinoblastoma
    • Onadim Z., Hogg A., and Cowell J.K. Mechanisms of oncogenesis in patient with familial retinoblastoma. Br J Cancer 68 (1993) 958-964
    • (1993) Br J Cancer , vol.68 , pp. 958-964
    • Onadim, Z.1    Hogg, A.2    Cowell, J.K.3
  • 10
    • 0028268523 scopus 로고
    • Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis
    • Shimizu T.T.J., Kato M.V., Kaneko A., Ishizaki K., and Sasaki M.S. Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis. Am J Hum Genet 54 (1994) 793-800
    • (1994) Am J Hum Genet , vol.54 , pp. 793-800
    • Shimizu, T.T.J.1    Kato, M.V.2    Kaneko, A.3    Ishizaki, K.4    Sasaki, M.S.5
  • 14
    • 0033020244 scopus 로고    scopus 로고
    • Mitotic recombination map of 13cen∼13q14 derived from an investigation of loss of heterozygosity in retinoblasotmas
    • Hastrom S.A., and Dryja T.P. Mitotic recombination map of 13cen∼13q14 derived from an investigation of loss of heterozygosity in retinoblasotmas. Proc Natl Acad Sci USA 96 (1999) 2952-2957
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2952-2957
    • Hastrom, S.A.1    Dryja, T.P.2
  • 15
    • 2642574983 scopus 로고    scopus 로고
    • Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon-by-exon" PCR-mediated SSCP analysis
    • Braggio E., Bonvicino C.R., Vargas F.R., Ferman S., Eisenberg A.L., and Seuanez H.N. Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon-by-exon" PCR-mediated SSCP analysis. J Clin Pathol 57 (2004) 585-590
    • (2004) J Clin Pathol , vol.57 , pp. 585-590
    • Braggio, E.1    Bonvicino, C.R.2    Vargas, F.R.3    Ferman, S.4    Eisenberg, A.L.5    Seuanez, H.N.6
  • 16
    • 0038102367 scopus 로고    scopus 로고
    • Laboratory strategies for efficient handling of paraffin-embedded tissues for molecular detection of clonality in non-Hodgkin lymphomas
    • Stefanoff C.G., Hassan R., Gonzalez A.C., Botelho Andrade L.A., Tabak D., Romano S., and Zalcberg I.R. Laboratory strategies for efficient handling of paraffin-embedded tissues for molecular detection of clonality in non-Hodgkin lymphomas. Diagn Mol Pathol 12 (2003) 79-87
    • (2003) Diagn Mol Pathol , vol.12 , pp. 79-87
    • Stefanoff, C.G.1    Hassan, R.2    Gonzalez, A.C.3    Botelho Andrade, L.A.4    Tabak, D.5    Romano, S.6    Zalcberg, I.R.7
  • 17
    • 0024284028 scopus 로고
    • A simple salting procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 215
    • (1988) Nucleic Acids Res , vol.16 , pp. 215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 18
    • 0002538933 scopus 로고
    • Preparation and analysis of eukaryotic DNA
    • Sambrook J., Fritsch E.F., and Maniatis T. (Eds), Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
    • Sambrook J., Fritsch E.F., and Maniatis T. Preparation and analysis of eukaryotic DNA. In: Sambrook J., Fritsch E.F., and Maniatis T. (Eds). Molecular cloning: a laboratory manual (1989), Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY 6.9-6.10
    • (1989) Molecular cloning: a laboratory manual
    • Sambrook, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 19
    • 0035119840 scopus 로고    scopus 로고
    • A microsatellite method for linkage analysis in familial retinoblastoma and deletion detection at the RB1 locus in retinoblastoma and osteosarcoma
    • Alonso J., García-Miguel P., Abelairas J., Mendiolia M., and Pestaña A. A microsatellite method for linkage analysis in familial retinoblastoma and deletion detection at the RB1 locus in retinoblastoma and osteosarcoma. Diagn Mol Pathol 10 (2001) 9-14
    • (2001) Diagn Mol Pathol , vol.10 , pp. 9-14
    • Alonso, J.1    García-Miguel, P.2    Abelairas, J.3    Mendiolia, M.4    Pestaña, A.5
  • 21
    • 3342996653 scopus 로고    scopus 로고
    • Retinoblastoma: revisiting the model prototype of inherited cancer
    • Lohmann D.R., and Gallie B.L. Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet 129C (2004) 23-28
    • (2004) Am J Med Genet , vol.129 C , pp. 23-28
    • Lohmann, D.R.1    Gallie, B.L.2
  • 22
    • 17144438930 scopus 로고    scopus 로고
    • Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense
    • 1-4. (Available at: http://www.jmedgenet.com/cgi/content/full/37/7/e6)
    • Scheffer H., Van der Vlies P., Burton M., Verlind E., Moll A.C., Mimhof S.M., and Buys C.H.C.M. Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense. J Med Genet 37 (2000). http://www.jmedgenet.com/cgi/content/full/37/7/e6 1-4. (Available at: http://www.jmedgenet.com/cgi/content/full/37/7/e6)
    • (2000) J Med Genet , vol.37
    • Scheffer, H.1    Van der Vlies, P.2    Burton, M.3    Verlind, E.4    Moll, A.C.5    Mimhof, S.M.6    Buys, C.H.C.M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.