메뉴 건너뛰기




Volumn 84, Issue 7, 2000, Pages 682-686

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene

Author keywords

[No Author keywords available]

Indexed keywords

TISSUE INHIBITOR OF METALLOPROTEINASE 3;

EID: 0033916986     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.84.7.682     Document Type: Article
Times cited : (10)

References (25)
  • 1
    • 0001790180 scopus 로고
    • A fundus dystrophy with unusual features
    • Sorsby A, Mason MEJ, Gardner N. A fundus dystrophy with unusual features. Br J Ophthalmol 1949;33:67-97.
    • (1949) Br J Ophthalmol , vol.33 , pp. 67-97
    • Sorsby, A.1    Mej, M.2    Gardner, N.3
  • 2
    • 0030962268 scopus 로고    scopus 로고
    • Exclusion of TIMP3 as a candidate locus in age-related macular degeneration
    • De La Paz MA, Pericak-Vance MA, Lennon F, et al. Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci 1997;38:1060-5.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 1060-1065
    • De La Ma, P.1    Ma, P.-V.2    Lennon, F.3
  • 3
    • 0026681119 scopus 로고
    • Prevalence of age-related maculopathy. the Beaver Dam Eye Study
    • Klein R, Klein BE, Linton KLP. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology 1992;99:933-43.
    • (1992) Ophthalmology , vol.99 , pp. 933-943
    • Klein, R.1    Klein, B.E.2    Klp, L.3
  • 4
    • 0028839002 scopus 로고
    • The prevalence of age-related maculopathy in the Rotterdam Study
    • Vingerling JR, Dielemans I, Hofman A, et al. The prevalence of age-related maculopathy in the Rotterdam Study. Ophthalmology 1995;102:205-10.
    • (1995) Ophthalmology , vol.102 , pp. 205-210
    • Vingerling, J.R.1    Dielemans, I.2    Hofman, A.3
  • 5
    • 0019779621 scopus 로고
    • Sorsby's pseudoinflammatory macular dystrophy
    • Hoskin A, Sehmi K, Bird AC. Sorsby's pseudoinflammatory macular dystrophy. Br J Ophthalmol 1981;65:859-65.
    • (1981) Br J Ophthalmol , vol.65 , pp. 859-865
    • Hoskin, A.1    Sehmi, K.2    Bird, A.C.3
  • 6
    • 0023857467 scopus 로고
    • Sorsby's pseudoinflammatory macula dystrophy: Sorsby's fundus dystrophies
    • Capon MRC, Polkinghorne PJ, Fitzke FW, et al. Sorsby's pseudoinflammatory macula dystrophy: Sorsby's fundus dystrophies. Eye 1988;2:114-22.
    • (1988) Eye , vol.2 , pp. 114-122
    • Mrc, C.1    Polkinghorne, P.J.2    Fitzke, F.W.3
  • 7
    • 0024830978 scopus 로고
    • Sorsby's fundus dystrophy: A clinical study
    • Polkinghorne PJ, Capon MRC, Berninger T, et al. Sorsby's fundus dystrophy: a clinical study. Ophthalmology 1989;96:1763-8.
    • (1989) Ophthalmology , vol.96 , pp. 1763-1768
    • Polkinghorne, P.J.1    Mrc, C.2    Berninger, T.3
  • 8
    • 0015081142 scopus 로고
    • Sorsby's familial pseudoinflammatory macular dystrophy
    • Fraser HB, Wallace DC. Sorsby's familial pseudoinflammatory macular dystrophy. Am J Ophthalmol 1971;71:1216- 20.
    • (1971) Am J Ophthalmol , vol.71 , pp. 1216-1220
    • Fraser, H.B.1    Wallace, D.C.2
  • 9
    • 0017063416 scopus 로고
    • Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family
    • Kalmus H, Seedburgh D. Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. J Med Genet 1976;13:271-6.
    • (1976) J Med Genet , vol.13 , pp. 271-276
    • Kalmus, H.1    Seedburgh, D.2
  • 11
    • 0028304097 scopus 로고
    • Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
    • Weber BHF, Vogt G, Wolz W, et al. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet 1994;7:158-61.
    • (1994) Nat Genet , vol.7 , pp. 158-161
    • Bhf, W.1    Vogt, G.2    Wolz, W.3
  • 12
    • 0028125576 scopus 로고
    • Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22
    • Apte SS, Mattei MG, Olsen BR. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. Genomics 1994;19:86-90.
    • (1994) Genomics , vol.19 , pp. 86-90
    • Apte, S.S.1    Mattei, M.G.2    Olsen, B.R.3
  • 13
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber BHF, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994;8:352-6.
    • (1994) Nat Genet , vol.8 , pp. 352-356
    • Bhf, W.1    Vogt, G.2    Pruett, R.C.3
  • 14
    • 0027933727 scopus 로고
    • Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population
    • Van Soest S, van den Born IL, Gal A, et al. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 1994;22:499- 504.
    • (1994) Genomics , vol.22 , pp. 499-504
    • Van Soest, S.1    Van Den Born, I.L.2    Gal, A.3
  • 15
    • 0028970172 scopus 로고
    • Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278
    • Gregory CY, Wijesuriya S, Evans K, et al. Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. J Med Genet 1995;32:240-1.
    • (1995) J Med Genet , vol.32 , pp. 240-241
    • Gregory, C.Y.1    Wijesuriya, S.2    Evans, K.3
  • 16
    • 0029556810 scopus 로고
    • Genomic organization of the human tissue inhibitor of metalloproteinases-3
    • Stöhr H, Roomp K, Felbor U, et al. Genomic organization of the human tissue inhibitor of metalloproteinases-3. Genome Res 1995;5:483-7.
    • (1995) Genome Res , vol.5 , pp. 483-487
    • Stöhr, H.1    Roomp, K.2    Felbor, U.3
  • 17
    • 0030028627 scopus 로고    scopus 로고
    • A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy
    • Felbor U, Stohr H, Amann T, et al. A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. J Med Genet 1996;33:233-6.
    • (1996) J Med Genet , vol.33 , pp. 233-236
    • Felbor, U.1    Stohr, H.2    Amann, T.3
  • 18
    • 1642638765 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;71:534-50.
    • (1989) Proc Natl Acad Sci USA , vol.71 , pp. 534-550
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3
  • 19
    • 0024821434 scopus 로고
    • Sorsby fundus dystrophy. A light and electron microscopic study
    • Capon MR, Marshall J, Krafft JI, et al. Sorsby fundus dystrophy. A light and electron microscopic study. Ophthalmology 1989;96:1769-77.
    • (1989) Ophthalmology , vol.96 , pp. 1769-1777
    • Capon, M.R.1    Marshall, J.2    Krafft, J.I.3
  • 20
    • 0031668129 scopus 로고    scopus 로고
    • A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features
    • Tabata Y, Isashiki Y, Kamimura K, et al. A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features. Hum Genet 1998;103:179-82
    • (1998) Hum Genet , vol.103 , pp. 179-182
    • Tabata, Y.1    Isashiki, Y.2    Kamimura, K.3
  • 21
    • 0029947143 scopus 로고    scopus 로고
    • Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3
    • Carrero-Valenzuela RD, Klein ML, Weleber RG, et al. Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. Arch Ophthalmol 1996;114:737-8.
    • (1996) Arch Ophthalmol , vol.114 , pp. 737-738
    • Carrero-Valenzuela, R.D.1    Klein, M.L.2    Weleber, R.G.3
  • 22
    • 0028879866 scopus 로고
    • A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
    • Felbor U, Stöhr H, Amann T, et al. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 1995;4:2415-16.
    • (1995) Hum Mol Genet , vol.4 , pp. 2415-2416
    • Felbor, U.1    Stöhr, H.2    Amann, T.3
  • 23
    • 0031038238 scopus 로고    scopus 로고
    • Autosomal recessive Sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance
    • Felbor U, Suvanto EA, Forsius HR, et al. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet 1997;60:57-62.
    • (1997) Am J Hum Genet , vol.60 , pp. 57-62
    • Felbor, U.1    Suvanto, E.A.2    Forsius, H.R.3
  • 24
    • 0029114249 scopus 로고
    • Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
    • Jacobson SG, Cideciyan AV, Regnath G, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet 1995;11:27-32.
    • (1995) Nat Genet , vol.11 , pp. 27-32
    • Jacobson, S.G.1    Cideciyan, A.V.2    Regnath, G.3
  • 25
    • 0029073465 scopus 로고
    • Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families
    • Bergen AA, Van den Born LI, Schuurman EJ, et al. Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families. Ophthalmic Genet 1995;16:63-70.
    • (1995) Ophthalmic Genet , vol.16 , pp. 63-70
    • Bergen, A.A.1    Van Den Born, L.I.2    Schuurman, E.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.