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Volumn 156, Issue 2, 2007, Pages 406-408

Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas [22]

Author keywords

[No Author keywords available]

Indexed keywords

BUTADIENE DIEPOXIDE; CYCLOPHOSPHAMIDE;

EID: 33846264941     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07661.x     Document Type: Letter
Times cited : (7)

References (10)
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    • Dyskeratosis congenita: Telomerase, telomeres and anticipation
    • Marrone A, Walne A, Dokal I. Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev 2005; 15:249-57.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 249-257
    • Marrone, A.1    Walne, A.2    Dokal, I.3
  • 2
    • 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 et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107:2680-5.
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3
  • 3
    • 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 et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19:32-8.
    • (1998) Nat Genet , vol.19 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3
  • 4
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T, Marrone A, Goldman F et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413:432-5.
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3
  • 5
    • 27644574342 scopus 로고    scopus 로고
    • Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    • Armanios M, Chen JL, Chang YP et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005; 102:15960-4.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15960-15964
    • Armanios, M.1    Chen, J.L.2    Chang, Y.P.3
  • 6
    • 0037439356 scopus 로고    scopus 로고
    • Cancer in Fanconi anemia, 1927-2001
    • Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer 2003; 97:425-40.
    • (2003) Cancer , vol.97 , pp. 425-440
    • Alter, B.P.1
  • 8
    • 0031668537 scopus 로고    scopus 로고
    • Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes
    • Coulthard S, Chase A, Pickard J et al. Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. Br J Haematol 1998; 102:1162-4.
    • (1998) Br J Haematol , vol.102 , pp. 1162-1164
    • Coulthard, S.1    Chase, A.2    Pickard, J.3
  • 9
    • 0033593814 scopus 로고    scopus 로고
    • Telomere length dynamics and chromosomal instability in cells derived from telomerase null mice
    • Hande MP, Samper E, Lansdorp P, Blasco MA. Telomere length dynamics and chromosomal instability in cells derived from telomerase null mice. J Cell Biol 1999; 144:589-601.
    • (1999) J Cell Biol , vol.144 , pp. 589-601
    • Hande, M.P.1    Samper, E.2    Lansdorp, P.3    Blasco, M.A.4
  • 10
    • 28944455294 scopus 로고    scopus 로고
    • Short telomeres, even in the presence of telomerase, limit tissue renewal capacity
    • Hao LY, Armanios M, Strong MA et al. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Cell 2005; 123:1121-31.
    • (2005) Cell , vol.123 , pp. 1121-1131
    • Hao, L.Y.1    Armanios, M.2    Strong, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.