메뉴 건너뛰기




Volumn 30, Issue 4, 2009, Pages 181-184

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita Retinal Vasculopathy in a Family with AD-DKC

Author keywords

Dyskeratosis congenita; Genetic anticipation; Retinal vasculopathy

Indexed keywords

TRIAMCINOLONE ACETONIDE;

EID: 70350446780     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810903148012     Document Type: Article
Times cited : (20)

References (22)
  • 1
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110(4):768-779.
    • (2000) Br J Haematol , vol.110 , Issue.4 , pp. 768-779
    • Dokal, I.1
  • 2
    • 19444383162 scopus 로고    scopus 로고
    • Dyskeratosis congenita: Telomerase, telomeres and anticipation
    • Marrone A, Walne A, Dokal I. Dyskeratosis congenita: Telomerase, telomeres and anticipation. Curr Opin Genet Dev. 2005;15(3):249-257.
    • (2005) Curr Opin Genet Dev , vol.15 , Issue.3 , pp. 249-257
    • Marrone, A.1    Walne, A.2    Dokal, I.3
  • 3
    • 36749012920 scopus 로고    scopus 로고
    • Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex
    • DOI 10.1016/j.biochi.2007.07.017, PII S0300908407001915, Telomeres and Telomerase: from Basic Research to Clinical Applications
    • Vulliamy TJ, Dokal I. Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008;90(1):122-130. (Pubitemid 350216210)
    • (2008) Biochimie , vol.90 , Issue.1 , pp. 122-130
    • Vulliamy, T.J.1    Dokal, I.2
  • 4
    • 0016727683 scopus 로고
    • Dyskeratosis congenita: Clinical features and genetic aspects. Report of a family and review of the literature
    • Sirinavin C, Trowbridge AA. Dyskeratosis congenita: Clinical features and genetic aspects. Report of a family and review of the literature. J Med Genet. 1975;12(4): 339-354.
    • (1975) J Med Genet , vol.12 , Issue.4 , pp. 339-354
    • Sirinavin, C.1    Trowbridge, A.A.2
  • 5
    • 0023701192 scopus 로고
    • Dyskeratosis congenita
    • Davidson HR, Connor JM. Dyskeratosis congenita. J Med Genet. 1988;25(12):843-846.
    • (1988) J Med Genet , vol.25 , Issue.12 , pp. 843-846
    • Davidson, H.R.1    Connor, J.M.2
  • 6
    • 38349057572 scopus 로고    scopus 로고
    • Bilateral retinal vasculopathy in a patient with dyskeratosis congenita
    • Teixeira LF, Shields CL, Marr B, Horgan N, Shields JA. Bilateral retinal vasculopathy in a patient with dyskeratosis congenita. Arch Ophthalmol. 2008;126(1): 134-135.
    • (2008) Arch Ophthalmol , vol.126 , Issue.1 , pp. 134-135
    • Teixeira, L.F.1    Shields, C.L.2    Marr, B.3    Horgan, N.4    Shields, J.A.5
  • 7
    • 49249121204 scopus 로고    scopus 로고
    • Retinal hemorrhages in a patient with dyskeratosis congenita
    • Nazir S, Sayani N, Phillips PH. Retinal hemorrhages in a patient with dyskeratosis congenita. J AAPOS. 2008;12(4):415-417.
    • (2008) J AAPOS , vol.12 , Issue.4 , pp. 415-417
    • Nazir, S.1    Sayani, N.2    Phillips, P.H.3
  • 8
    • 33645508898 scopus 로고    scopus 로고
    • Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
    • Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation. Blood. 2006;107(7):2680-2685.
    • (2006) Blood , vol.107 , Issue.7 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 9
    • 35748940022 scopus 로고    scopus 로고
    • Dysfunctional telomeres and dyskeratosis congenita
    • Bessler M, Du HY, Gu B, Mason PJ. Dysfunctional telomeres and dyskeratosis congenita. Haematologica. 2007;92(8):1009-1012.
    • (2007) Haematologica , vol.92 , Issue.8 , pp. 1009-1012
    • Bessler, M.1    Du, H.Y.2    Gu, B.3    Mason, P.J.4
  • 10
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • DOI 10.1038/35096585
    • Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001;413(6854):432-435. (Pubitemid 32928599)
    • (2001) Nature , vol.413 , Issue.6854 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3    Dearlove, A.4    Bessler, M.5    Mason, P.J.6    Dokal, I.7
  • 12
    • 31944436260 scopus 로고    scopus 로고
    • Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres
    • Jády BE, Richard P, Bertrand E, Kiss T. Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres. Mol Biol Cell. 2006;17(2):944-954.
    • (2006) Mol Biol Cell , vol.17 , Issue.2 , pp. 944-954
    • Jády, B.E.1    Richard, P.2    Bertrand, E.3    Kiss, T.4
  • 13
    • 0024978857 scopus 로고
    • A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis
    • Greider CW, Blackburn EH. A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis. Nature. 1989;337(6205):331- 337.
    • (1989) Nature , vol.337 , Issue.6205 , pp. 331-337
    • Greider, C.W.1    Blackburn, E.H.2
  • 14
    • 0025279059 scopus 로고
    • In vivo alteration of telomere sequences and senescence caused by mutated Tetrahymena telomerase RNAs
    • Yu GL, Bradley JD, Attardi LD, Blackburn EH. In vivo alteration of telomere sequences and senescence caused by mutated Tetrahymena telomerase RNAs. Nature. 1990;344(6262):126-132.
    • (1990) Nature , vol.344 , Issue.6262 , pp. 126-132
    • Yu, G.L.1    Bradley, J.D.2    Attardi, L.D.3    Blackburn, E.H.4
  • 18
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet. 1998;19(1):32-38.
    • (1998) Nat Genet , vol.19 , Issue.1 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Wiemann, S.5    Mason, P.J.6    Poustka, A.7    Dokal, I.8
  • 19
    • 0032962316 scopus 로고    scopus 로고
    • Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene
    • 1
    • Hassock S, Vetrie D, Giannelli F. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics. 1999;1;55(1):21-27.
    • (1999) Genomics , vol.55 , Issue.1 , pp. 21-27
    • Hassock, S.1    Vetrie, D.2    Giannelli, F.3
  • 20
    • 2442617343 scopus 로고    scopus 로고
    • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    • Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet. 2004;36(5):447-449.
    • (2004) Nat Genet , vol.36 , Issue.5 , pp. 447-449
    • Vulliamy, T.1    Marrone, A.2    Szydlo, R.3    Walne, A.4    Mason, P.J.5    Dokal, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.