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Volumn 14, Issue 1, 2000, Pages 18-22

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis

Author keywords

APC mutations; Chinese FAP; CHRPE

Indexed keywords

DNA;

EID: 0034008941     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/eye.2000.5     Document Type: Article
Times cited : (14)

References (30)
  • 1
    • 0343227776 scopus 로고
    • Phenotypic expressions of Japanese patients with familial adenomatous polyposis
    • Herrera L, editor. New York: Alan R Liss
    • Utsunomiya J, Miki Y, Kuroki T, Iwama T. Phenotypic expressions of Japanese patients with familial adenomatous polyposis. In: Herrera L, editor. Familial adenomatous polyposis. New York: Alan R Liss, 1990:101-7.
    • (1990) Familial Adenomatous Polyposis , pp. 101-107
    • Utsunomiya, J.1    Miki, Y.2    Kuroki, T.3    Iwama, T.4
  • 2
    • 0024853253 scopus 로고
    • Inherited disorders associated with colorectal cancer
    • Murday V, Slack J. Inherited disorders associated with colorectal cancer. Cancer Surv 1989;8:139-57.
    • (1989) Cancer Surv , vol.8 , pp. 139-157
    • Murday, V.1    Slack, J.2
  • 3
    • 84965798926 scopus 로고
    • The incidence and prevalence of familial polyposis coli in Denmark
    • Bulow SHN, Hauge M. The incidence and prevalence of familial polyposis coli in Denmark. Scand J Soc Med 1986;14:67-74.
    • (1986) Scand J Soc Med , vol.14 , pp. 67-74
    • Bulow, S.H.N.1    Hauge, M.2
  • 4
    • 0026558770 scopus 로고
    • Epidemiology of familial adenomatous polyposis in Finland: Impact of family screening on the colorectal cancer rate and survival
    • Jarvinen HJ. Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival. Gut 1992;33:357-60.
    • (1992) Gut , vol.33 , pp. 357-360
    • Jarvinen, H.J.1
  • 5
    • 0025817880 scopus 로고
    • Identification of FAP locus genes from chromosome 5q21
    • Kinzler KW, Nilbert MC, Su L, 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.3
  • 6
    • 0023874694 scopus 로고
    • Congenital hypertrophy of retinal pigment epithelium in familial adenomatous polyposis
    • Diaz-Llopis M, Menezo JL. Congenital hypertrophy of retinal pigment epithelium in familial adenomatous polyposis. Arch Ophthalmol 1988;106:412-3.
    • (1988) Arch Ophthalmol , vol.106 , pp. 412-413
    • Diaz-Llopis, M.1    Menezo, J.L.2
  • 7
    • 0023909667 scopus 로고
    • A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium
    • Lyons LA, Lewis RA, Strong LC, et al. A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. Am J Hum Genet 1988;42:290-6.
    • (1988) Am J Hum Genet , vol.42 , pp. 290-296
    • Lyons, L.A.1    Lewis, R.A.2    Strong, L.C.3
  • 8
    • 0023888797 scopus 로고
    • Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis
    • Berk T, Cohen Z, McLeod RS, Parker JA. Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum 1988;31:253-7.
    • (1988) Dis Colon Rectum , vol.31 , pp. 253-257
    • Berk, T.1    Cohen, Z.2    McLeod, R.S.3    Parker, J.A.4
  • 9
    • 0025079508 scopus 로고
    • Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis
    • Polkinghorne PJ, Ritchie S, Neale K, et al. Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis. Eye 1990;4:216-22.
    • (1990) Eye , vol.4 , pp. 216-222
    • Polkinghorne, P.J.1    Ritchie, S.2    Neale, K.3
  • 10
    • 10544228516 scopus 로고    scopus 로고
    • Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis
    • Valanzano R, Cama A, Volpe R, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Cancer 1996;78:2400-10.
    • (1996) Cancer , vol.78 , pp. 2400-2410
    • Valanzano, R.1    Cama, A.2    Volpe, R.3
  • 11
    • 0032009572 scopus 로고    scopus 로고
    • Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium (CHRPE) in Chinese familial adenomatous polyposis patients
    • Lam DSC, Kwok SPY, Kwok AKH, et al. Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium (CHRPE) in Chinese familial adenomatous polyposis patients. Chin Med J 1998;111:278-81.
    • (1998) Chin Med J , vol.111 , pp. 278-281
    • Lam, D.S.C.1    Kwok, S.P.Y.2    Kwok, A.K.H.3
  • 12
    • 0025938038 scopus 로고
    • Identification and characterisation of the familial adenomatous polyposis coli gene
    • Groden J, Thliveris A, Samowitz W, et al. Identification and characterisation 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
  • 13
    • 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;253:665-9.
    • (1991) Science , vol.253 , pp. 665-669
    • Nishisho, I.1    Nakamura, Y.2    Miyoshi, Y.3
  • 14
    • 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-Puig P, et al. 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-Puig, P.3
  • 15
    • 0029928160 scopus 로고    scopus 로고
    • APC gene: Database of germline and somatic mutations in human tumors and cell lines
    • Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1996;24:121-4.
    • (1996) Nucleic Acids Res , vol.24 , pp. 121-124
    • Beroud, C.1    Soussi, T.2
  • 16
    • 16944365156 scopus 로고    scopus 로고
    • Characterisation of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques
    • Gismondi V, Bafico A, Biticchi R, et al. Characterisation of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. Hum Mutat 1997;9:370-3.
    • (1997) Hum Mutat , vol.9 , pp. 370-373
    • Gismondi, V.1    Bafico, A.2    Biticchi, R.3
  • 17
    • 0030736616 scopus 로고    scopus 로고
    • APC mutations in familial adenomatous polyposis families in Northwest England
    • Armstrong J, Davies DR, Guy S, et al. APC mutations in familial adenomatous polyposis families in Northwest England. Hum Mutat 1997;10:376-80.
    • (1997) Hum Mutat , vol.10 , pp. 376-380
    • Armstrong, J.1    Davies, D.R.2    Guy, S.3
  • 18
    • 0028905406 scopus 로고
    • Familial adenomatous polyposis: Desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
    • Caspari R, Oslchwang S, Friedl W, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995;4:337-40.
    • (1995) Hum Mol Genet , vol.4 , pp. 337-340
    • Caspari, R.1    Oslchwang, S.2    Friedl, W.3
  • 19
    • 0030765423 scopus 로고    scopus 로고
    • The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations
    • Reck AC, Bunyan D, Eccles D, Humphry R. The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations. Eye 1997;11:298-300.
    • (1997) Eye , vol.11 , pp. 298-300
    • Reck, A.C.1    Bunyan, D.2    Eccles, D.3    Humphry, R.4
  • 20
    • 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
  • 21
    • 11944252481 scopus 로고
    • Germ-line mutations of APC gene in 53 familial adenomatous polyposis patients
    • Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of 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
  • 22
    • 0028033602 scopus 로고
    • Mutations of the adenomatous polyposis coli gene in the mutation cluster region: Comparison of human pancreatic and colorectal cancers
    • Yashima K, Nakamori S, Murakami Y, et al. Mutations of the adenomatous polyposis coli gene in the mutation cluster region: comparison of human pancreatic and colorectal cancers. Int J Cancer 1994;59:43-7.
    • (1994) Int J Cancer , vol.59 , pp. 43-47
    • Yashima, K.1    Nakamori, S.2    Murakami, Y.3
  • 23
    • 0028953279 scopus 로고
    • The APC protein and E-cadherin form similar but independent complexes with alpha-catenin, beta-catenin, and plakoglobin
    • Rubinfeld B, Souza B, Albert I, et al. The APC protein and E-cadherin form similar but independent complexes with alpha-catenin, beta-catenin, and plakoglobin. J Biol Chem 1995;270:5549-55.
    • (1995) J Biol Chem , vol.270 , pp. 5549-5555
    • Rubinfeld, B.1    Souza, B.2    Albert, I.3
  • 24
    • 0031000341 scopus 로고    scopus 로고
    • Retinal pigment epithelium abnormalities in mice with adenomatous polyposis coli gene disruption
    • Marcus DM, Rustgi AK, Defoe DM, et al. Retinal pigment epithelium abnormalities in mice with adenomatous polyposis coli gene disruption. Arch Ophthalmol 1997;115:645-50.
    • (1997) Arch Ophthalmol , vol.115 , pp. 645-650
    • Marcus, D.M.1    Rustgi, A.K.2    Defoe, D.M.3
  • 25
    • 0030202884 scopus 로고    scopus 로고
    • Exceptions to the rule: Individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene
    • Pack K, Smith-Raven J, Phillips RKS, Hodgson SV. Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene. Clin Genet 1996;50:110-1.
    • (1996) Clin Genet , vol.50 , pp. 110-111
    • Pack, K.1    Smith-Raven, J.2    Phillips, R.K.S.3    Hodgson, S.V.4
  • 26
    • 0028823186 scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP): A phenotypically and genotypically distinctive variant of FAP
    • Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP): a phenotypically and genotypically distinctive variant of FAP. Cancer 1995;76:2427-33.
    • (1995) Cancer , vol.76 , pp. 2427-2433
    • Lynch, H.T.1    Smyrk, T.2    McGinn, T.3
  • 27
    • 0031781181 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in attenuated adenomatous polyposis coli
    • Soravia C, Berk T, Madlensky L, et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998;62:1290-301.
    • (1998) Am J Hum Genet , vol.62 , pp. 1290-1301
    • Soravia, C.1    Berk, T.2    Madlensky, L.3
  • 28
    • 0023141362 scopus 로고
    • Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome
    • Traboulsi EI, Krush AJ, Gardner EJ, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 1987;316:661-7.
    • (1987) N Engl J Med , vol.316 , pp. 661-667
    • Traboulsi, E.I.1    Krush, A.J.2    Gardner, E.J.3
  • 29
    • 0025076282 scopus 로고
    • Importance of retinal pigmentation as a subclinical marker in familial adenomatous polyposis
    • Baba S, Tsuchiya M, Watanabe I, Machida H. Importance of retinal pigmentation as a subclinical marker in familial adenomatous polyposis. Dis Colon Rectum 1990;33:660-5.
    • (1990) Dis Colon Rectum , vol.33 , pp. 660-665
    • Baba, S.1    Tsuchiya, M.2    Watanabe, I.3    Machida, H.4
  • 30
    • 0029078623 scopus 로고
    • Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis
    • Bunyan DJ, Shea-Shimonds J, Reck AC, et al. Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. J Med Genet 1995;32:728-31.
    • (1995) J Med Genet , vol.32 , pp. 728-731
    • Bunyan, D.J.1    Shea-Shimonds, J.2    Reck, A.C.3


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