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Volumn 33, Issue 3, 1996, Pages 244-247

Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysis

Author keywords

Familial adenomatous polyposis; Fluorescence technology; Pre symptomatic diagnosis

Indexed keywords

DNA; DNA MARKER;

EID: 0030044077     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.3.244     Document Type: Article
Times cited : (4)

References (26)
  • 2
    • 0023223410 scopus 로고
    • Localization of the gene for familial adenomatous polyposis on chromosome 5
    • Bodmer WF, Bailey CJ, Bodmer J, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987;328:614-16.
    • (1987) Nature , vol.328 , pp. 614-616
    • Bodmer, W.F.1    Bailey, C.J.2    Bodmer, J.3
  • 3
    • 1442342277 scopus 로고
    • The gene for familial polyposis maps to the long arm of chromosome 5
    • Leppert M, Dobbs M, Scambler P, et al. The gene for familial polyposis maps to the long arm of chromosome 5. Cytogenet Cell Genet 1987;46:647A.
    • (1987) Cytogenet Cell Genet , vol.46
    • Leppert, M.1    Dobbs, M.2    Scambler, P.3
  • 4
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3
  • 5
    • 0025941471 scopus 로고
    • Identification of deletion mutations and three new genes at the familial polyposis locus
    • Joslyn G, Carlson M, Thliveris A, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:601-13.
    • (1991) Cell , vol.66 , pp. 601-613
    • Joslyn, G.1    Carlson, M.2    Thliveris, A.3
  • 6
    • 0025817880 scopus 로고
    • Identification of FAP locus genes from chromosome 5q21
    • Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-5.
    • (1991) Science , vol.253 , pp. 661-665
    • Kinzler, K.W.1    Nilbert, M.C.2    Su, L.K.3
  • 7
    • 0025899162 scopus 로고
    • Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
    • Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;254:665-9.
    • (1991) Science , vol.254 , pp. 665-669
    • Nishisho, I.1    Nakamura, Y.2    Miyoshi, Y.3
  • 8
    • 11944252481 scopus 로고
    • Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients
    • Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992;89:4452-6.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4452-4456
    • Miyoshi, Y.1    Ando, H.2    Nagase, H.3
  • 9
    • 12244308400 scopus 로고
    • Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients
    • Nagase H, Miyoshi Y, Horii A, et al. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1992;1:467-73.
    • (1992) Hum Mutat , vol.1 , pp. 467-473
    • Nagase, H.1    Miyoshi, Y.2    Horii, A.3
  • 10
    • 0027146559 scopus 로고
    • Mutations of the APC (adenomatous polyposis coli) gene
    • Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993;2:425-34.
    • (1993) Hum Mutat , vol.2 , pp. 425-434
    • Nagase, H.1    Nakamura, Y.2
  • 11
    • 0027401792 scopus 로고
    • Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals
    • Groden J, Gelbert L, Thliveris A, et al. Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am J Hum Genet 1993;52:263-72.
    • (1993) Am J Hum Genet , vol.52 , pp. 263-272
    • Groden, J.1    Gelbert, L.2    Thliveris, A.3
  • 12
    • 0027769633 scopus 로고
    • Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
    • Olschwang S, Tiret A, Laurent-Puíg P, Muleris M, Parc RE, Thomas G. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 1993;75:959-68.
    • (1993) Cell , vol.75 , pp. 959-968
    • Olschwang, S.1    Tiret, A.2    Laurent-Puíg, P.3    Muleris, M.4    Parc, R.E.5    Thomas, G.6
  • 13
    • 0027535407 scopus 로고
    • Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis
    • Varesco L, Gismondi V, James R, et al. Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. Am J Hum Genet 1993;52:280.
    • (1993) Am J Hum Genet , vol.52 , pp. 280
    • Varesco, L.1    Gismondi, V.2    James, R.3
  • 14
    • 0027234574 scopus 로고
    • Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: A population based study
    • Maher ER, Barton DE, Slatter R, et al. Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. J Med Genet 1993;30:675-8.
    • (1993) J Med Genet , vol.30 , pp. 675-678
    • Maher, E.R.1    Barton, D.E.2    Slatter, R.3
  • 15
    • 0025936127 scopus 로고
    • CA repeat polymorphism at the D5S82 locus, proximal to the adenomatous polyposis coli (APC)
    • Breukel C, Tops C, Van Leeuwen C. CA repeat polymorphism at the D5S82 locus, proximal to the adenomatous polyposis coli (APC). Nucleic Acids Res 1991;19:5804.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5804
    • Breukel, C.1    Tops, C.2    Van Leeuwen, C.3
  • 16
    • 0026431771 scopus 로고
    • CA repeat polymorphism within the MCC (mutated in colon cancer)
    • van Leeuwen C, Tops C, Breukel C. CA repeat polymorphism within the MCC (mutated in colon cancer). Nucleic Acids Res 1991;19:5805.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5805
    • Van Leeuwen, C.1    Tops, C.2    Breukel, C.3
  • 17
    • 0025941478 scopus 로고
    • CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC)
    • van Leeuwen C, Tops C, Breukel C. CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC). Nucleic Acids Res 1991;19:5805.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5805
    • Van Leeuwen, C.1    Tops, C.2    Breukel, C.3
  • 18
    • 0026008884 scopus 로고
    • CA repeat 30-50 kb down-stream from the adenomatous polyposis coli (APC)
    • Spirio L, Joslyn G, Nelson LA. CA repeat 30-50 kb down-stream from the adenomatous polyposis coli (APC). Nucleic Acids Res 1991;19:6348.
    • (1991) Nucleic Acids Res , vol.19 , pp. 6348
    • Spirio, L.1    Joslyn, G.2    Nelson, L.A.3
  • 19
    • 0027724691 scopus 로고
    • Alleles of the APC gene: An attenuated form of familial polyposis
    • Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
    • (1993) Cell , vol.75 , pp. 951-957
    • Spirio, L.1    Olschwang, S.2    Groden, J.3
  • 20
    • 0026333157 scopus 로고
    • CA repeat polymorphism from YAC JW25 at the D5S318 locus, distal to adenomatous polyposis coli (APC)
    • Wijnen J, Tops C, Breukel C. CA repeat polymorphism from YAC JW25 at the D5S318 locus, distal to adenomatous polyposis coli (APC). Nucleic Acids Res 1991;19:6965.
    • (1991) Nucleic Acids Res , vol.19 , pp. 6965
    • Wijnen, J.1    Tops, C.2    Breukel, C.3
  • 21
    • 0026950084 scopus 로고
    • Dinucleotide repeat polymorphism at the D5S134 locus linked to the adenomatous polyposis coli (APC) gene
    • Koovey DJ, McCaughan GW, Trent RJ, Gallagher ND. Dinucleotide repeat polymorphism at the D5S134 locus linked to the adenomatous polyposis coli (APC) gene. Hum Molec Genet 1992;1:655.
    • (1992) Hum Molec Genet , vol.1 , pp. 655
    • Koovey, D.J.1    McCaughan, G.W.2    Trent, R.J.3    Gallagher, N.D.4
  • 22
    • 0028352479 scopus 로고
    • Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene
    • Eckert WA, Jung C, Wolff G. Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene. J Med Genet 1994;31:442-7.
    • (1994) J Med Genet , vol.31 , pp. 442-447
    • Eckert, W.A.1    Jung, C.2    Wolff, G.3
  • 23
    • 0026518092 scopus 로고
    • Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion
    • Kraus C, Ballhausen WG. Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion. Hum Genet 1992;88:705-6.
    • (1992) Hum Genet , vol.88 , pp. 705-706
    • Kraus, C.1    Ballhausen, W.G.2
  • 24
    • 0026907302 scopus 로고
    • Two MspI polymorphisms within the APC gene
    • Cottrell S, Bodmer WF. Two MspI polymorphisms within the APC gene. Hum Molec Genet 1991;1:352.
    • (1991) Hum Molec Genet , vol.1 , pp. 352
    • Cottrell, S.1    Bodmer, W.F.2
  • 25
    • 0026431865 scopus 로고
    • Ssp1 polymorphism in sequence encoding 3′ untranslated region of the APC gene
    • Heighway J, Hoban PR, Wyllie AH. Ssp1 polymorphism in sequence encoding 3′ untranslated region of the APC gene. Nucleic Acids Res 1991;19;6966.
    • (1991) Nucleic Acids Res , vol.19 , pp. 6966
    • Heighway, J.1    Hoban, P.R.2    Wyllie, A.H.3
  • 26
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • Luijt R, Meera Khan P, Vasen H, et al. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1994;20:1-4.
    • (1994) Genomics , vol.20 , pp. 1-4
    • Luijt, R.1    Meera Khan, P.2    Vasen, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.