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Volumn 24, Issue 6, 1999, Pages 452-454

Haematological disease in siblings with Rothmund-Thomson syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FEMALE; HEMATOLOGIC DISEASE; HUMAN; PHOTOSENSITIVITY; POIKILODERMA; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; SIBLING; SKIN MANIFESTATION;

EID: 0033404726     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.1999.00530.x     Document Type: Article
Times cited : (35)

References (10)
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    • (1992) J Am Acad Dermatol , vol.27 , pp. 750-762
    • Vennos, E.M.1    Collins, M.2    James, W.D.3
  • 2
    • 51249195723 scopus 로고
    • Über kataracte in verdinbung mit einer eigentümlichen hautdegeneration
    • Rothmund A. Über Kataracte in Verdinbung mit einer eigentümlichen Hautdegeneration. Graefes Arch Opthalmol 1868; 14: 159-82.
    • (1868) Graefes Arch Opthalmol , vol.14 , pp. 159-182
    • Rothmund, A.1
  • 3
    • 0032468161 scopus 로고    scopus 로고
    • Multicentric osteosarcoma, Rothmund-Thomson syndrome and secondary nasopharyngeal non-Hodgkin's lymphoma; a case report and review of the literature
    • Spurney C, Gorlick R, Meyers P et al. Multicentric osteosarcoma, Rothmund-Thomson syndrome and secondary nasopharyngeal non-Hodgkin's lymphoma; a case report and review of the literature. J Paediatr Haematol Oncol 1998; 20: 494-7.
    • (1998) J Paediatr Haematol Oncol , vol.20 , pp. 494-497
    • Spurney, C.1    Gorlick, R.2    Meyers, P.3
  • 4
    • 0031799895 scopus 로고    scopus 로고
    • X linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss N, Knight S, Vulliamy T et al. X linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genet 1998; 19: 32-8.
    • (1998) Nature Genet , vol.19 , pp. 32-38
    • Heiss, N.1    Knight, S.2    Vulliamy, T.3
  • 5
    • 9344253898 scopus 로고    scopus 로고
    • Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism
    • Lindor NM, Devries EMG, Michels VV et al. Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin Genet 1996; 49: 124-9.
    • (1996) Clin Genet , vol.49 , pp. 124-129
    • Lindor, N.M.1    Devries, E.M.G.2    Michels, V.V.3
  • 6
    • 17344375845 scopus 로고    scopus 로고
    • Chromosomal instability in fibroblasts and mesenchymal tumours from 2 sibs with Rothmund-Thomson syndrome
    • Miozzo M, Castorina P, Riva P et al. Chromosomal instability in fibroblasts and mesenchymal tumours from 2 sibs with Rothmund-Thomson syndrome. Int J Cancer 1998; 77: 504-10.
    • (1998) Int J Cancer , vol.77 , pp. 504-510
    • Miozzo, M.1    Castorina, P.2    Riva, P.3
  • 7
    • 0025037164 scopus 로고
    • Clonal lines of aneuploid cells in Rothmund-Thomson syndrome
    • Der Kaloustian VM, McGill JJ, Vekemans M et al. Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. Am J Med Genet 1990; 37: 336-9.
    • (1990) Am J Med Genet , vol.37 , pp. 336-339
    • Der Kaloustian, V.M.1    McGill, J.J.2    Vekemans, M.3
  • 8
    • 0027336683 scopus 로고
    • IgG4 deficiency with Rothmund-Thomson syndrome: A case report
    • Kubota M, Yasunaga M, Hashimoto H et al. IgG4 deficiency with Rothmund-Thomson syndrome: a case report. Eur J Paediatr 1993; 152: 406-8.
    • (1993) Eur J Paediatr , vol.152 , pp. 406-408
    • Kubota, M.1    Yasunaga, M.2    Hashimoto, H.3
  • 9
    • 0031909378 scopus 로고    scopus 로고
    • A female patient with Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract
    • Snels D, Bavinck J. Muller H et al. A female patient with Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract. Dermatology 1998; 196: 260-3.
    • (1998) Dermatology , vol.196 , pp. 260-263
    • Snels, D.1    Bavinck, J.2    Muller, H.3
  • 10
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    • Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: A case report
    • Rizzari C, Bacchiochi D, Rovelli A et al. Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: a case report. J Paediatr Haematol Oncol 1996; 18: 96-7.
    • (1996) J Paediatr Haematol Oncol , vol.18 , pp. 96-97
    • Rizzari, C.1    Bacchiochi, D.2    Rovelli, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.