메뉴 건너뛰기




Volumn 28, Issue 3, 2007, Pages 175-178

Lens opacities in Bloom syndrome: Case report and review of the literature

Author keywords

Bloom syndrome; Cataract; Lens

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CASE REPORT; CATARACT; FEMALE; HUMAN; HYPOGONADISM; IMMUNE DEFICIENCY; MALIGNANT NEOPLASTIC DISEASE; PHOTOSENSITIVITY; PRIORITY JOURNAL; SHORT STATURE; SISTER CHROMATID EXCHANGE;

EID: 34848921451     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701389685     Document Type: Article
Times cited : (10)

References (27)
  • 1
    • 34848813686 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD.#210900: World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
    • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD.#210900: World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
  • 2
    • 34848832759 scopus 로고    scopus 로고
    • German J, Ellis NA. Bloom syndrome. In: Vogelstein B, Kinzler KW, eds. The genetic basis of human cancer, 2nd edition. New York: McGraw-Hill, 2002;267-288.
    • German J, Ellis NA. Bloom syndrome. In: Vogelstein B, Kinzler KW, eds. The genetic basis of human cancer, 2nd edition. New York: McGraw-Hill, 2002;267-288.
  • 3
    • 84944972302 scopus 로고
    • Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs
    • Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child. 1954;88:754-758.
    • (1954) Am J Dis Child , vol.88 , pp. 754-758
    • Bloom, D.1
  • 4
    • 5144228046 scopus 로고    scopus 로고
    • Constitutional hyperrecombinability and its consequences
    • German J. Constitutional hyperrecombinability and its consequences. Genetics. 2004;168:1-8.
    • (2004) Genetics , vol.168 , pp. 1-8
    • German, J.1
  • 5
    • 0024591985 scopus 로고
    • Bloom's syndrome. XII. Report from the Registry for 1987
    • German J, Passarge E. Bloom's syndrome. XII. Report from the Registry for 1987. Clin Genet. 1989;35:57-69.
    • (1989) Clin Genet , vol.35 , pp. 57-69
    • German, J.1    Passarge, E.2
  • 6
    • 0031052108 scopus 로고    scopus 로고
    • Bloom's syndrome. XX. The first 100 cancers
    • German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet. 1997;93:100-106.
    • (1997) Cancer Genet Cytogenet , vol.93 , pp. 100-106
    • German, J.1
  • 7
    • 0028785586 scopus 로고
    • The Bloom's syndrome gene product is homologous to RecQ helicases
    • Ellis NA, Groden J, Ye TZ, et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell. 1995;83:655-666.
    • (1995) Cell , vol.83 , pp. 655-666
    • Ellis, N.A.1    Groden, J.2    Ye, T.Z.3
  • 8
    • 2542499623 scopus 로고    scopus 로고
    • Clinical features of Bloom syndrome and function of the causative gene, BLM helicase
    • Kaneko H, Kondo N. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn. 2004;4:393-401.
    • (2004) Expert Rev Mol Diagn , vol.4 , pp. 393-401
    • Kaneko, H.1    Kondo, N.2
  • 9
    • 0037364415 scopus 로고    scopus 로고
    • RecQ helicases: Caretakers of the genome
    • Hickson ID. RecQ helicases: Caretakers of the genome. Nat Rev Cancer. 2003;3:169-178.
    • (2003) Nat Rev Cancer , vol.3 , pp. 169-178
    • Hickson, I.D.1
  • 11
    • 0026000182 scopus 로고
    • Insulin-dependent diabetes developed in a young man with Bloom's syndrome
    • Kondo N, Asano J, Kimura S, et al. Insulin-dependent diabetes developed in a young man with Bloom's syndrome. Clin Genet. 1991;40:251-252.
    • (1991) Clin Genet , vol.40 , pp. 251-252
    • Kondo, N.1    Asano, J.2    Kimura, S.3
  • 12
    • 0025167548 scopus 로고
    • Diabetes mellitus in a young man with Bloom's syndrome
    • Mori S, Kondo N, Motoyoshi F, et al. Diabetes mellitus in a young man with Bloom's syndrome. Clin Genet. 1990;38:387-390.
    • (1990) Clin Genet , vol.38 , pp. 387-390
    • Mori, S.1    Kondo, N.2    Motoyoshi, F.3
  • 13
    • 0035425563 scopus 로고    scopus 로고
    • Successful pregnancy in a woman with Bloom syndrome
    • Chisholm CA, Bray MJ, Karns LB. Successful pregnancy in a woman with Bloom syndrome. Am J. Med Genet. 2001;102:136-138.
    • (2001) Am J. Med Genet , vol.102 , pp. 136-138
    • Chisholm, C.A.1    Bray, M.J.2    Karns, L.B.3
  • 15
    • 16544375343 scopus 로고    scopus 로고
    • Early-onset drusen in a girl with Bloom syndrome: Probable clinical importance of an ocular manifestation
    • Aslan D, Ozturk G, Kaya Z, Bideci A, Ozdogaan S, Ozdek S, Gursel T. Early-onset drusen in a girl with Bloom syndrome: Probable clinical importance of an ocular manifestation. J Pediatr Hematol Oncol. 2004;25:256-7.
    • (2004) J Pediatr Hematol Oncol , vol.25 , pp. 256-257
    • Aslan, D.1    Ozturk, G.2    Kaya, Z.3    Bideci, A.4    Ozdogaan, S.5    Ozdek, S.6    Gursel, T.7
  • 16
    • 0013959988 scopus 로고
    • Eye findings in congenital telangiectatic erythema and growth retardation (Bloom's syndrome)
    • Landau J, Katzenellenbogen I, Laron Z. Eye findings in congenital telangiectatic erythema and growth retardation (Bloom's syndrome). Am J Ophthalmol. 1966;62:753-4.
    • (1966) Am J Ophthalmol , vol.62 , pp. 753-754
    • Landau, J.1    Katzenellenbogen, I.2    Laron, Z.3
  • 17
    • 0028831333 scopus 로고
    • Bloom's syndrome
    • German J. Bloom's syndrome. Dermatol Clin. 1995;13:7-18.
    • (1995) Dermatol Clin , vol.13 , pp. 7-18
    • German, J.1
  • 18
    • 0030944932 scopus 로고    scopus 로고
    • A case of Bloom syndrome with conjunctival telangiectasia
    • Sahn EE, Hussey RH, Christmann LM. A case of Bloom syndrome with conjunctival telangiectasia. Pediat Dermatol. 1997;14:120-4.
    • (1997) Pediat Dermatol , vol.14 , pp. 120-124
    • Sahn, E.E.1    Hussey, R.H.2    Christmann, L.M.3
  • 21
    • 1542721644 scopus 로고    scopus 로고
    • Bloom syndrome: Multiple retinopathies in a chromosome breakage disorder
    • Bhisitkul RB, Rizen M. Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. Br J Ophthalmol. 2004;88:354-357.
    • (2004) Br J Ophthalmol , vol.88 , pp. 354-357
    • Bhisitkul, R.B.1    Rizen, M.2
  • 22
    • 0033454735 scopus 로고    scopus 로고
    • Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2
    • Fryns JP, Dumolin M, Hens G. Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2. Genet Couns. 1999;10(4):395-398.
    • (1999) Genet Couns , vol.10 , Issue.4 , pp. 395-398
    • Fryns, J.P.1    Dumolin, M.2    Hens, G.3
  • 23
    • 29244490039 scopus 로고    scopus 로고
    • External factors in the development of cataract
    • Robman L, Taylor H. External factors in the development of cataract. Eye. 2005;19:1074-82.
    • (2005) Eye , vol.19 , pp. 1074-1082
    • Robman, L.1    Taylor, H.2
  • 24
    • 0037253076 scopus 로고    scopus 로고
    • Ocular manifestations in the inherited DNA repair disorders
    • Dollfus H, Porto F, Caussade P, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol. 2003;48:107-122.
    • (2003) Surv Ophthalmol , vol.48 , pp. 107-122
    • Dollfus, H.1    Porto, F.2    Caussade, P.3
  • 25
    • 0037001393 scopus 로고    scopus 로고
    • Fanconi anemia and primary cataracts: First case
    • Merriman M, Mora J, McGaughran J. Fanconi anemia and primary cataracts: First case. Ophthalmic Genet. 2002;23:253-5.
    • (2002) Ophthalmic Genet , vol.23 , pp. 253-255
    • Merriman, M.1    Mora, J.2    McGaughran, J.3
  • 27
    • 13244260757 scopus 로고    scopus 로고
    • The endogenous and exogenous mechanisms for protection from ultraviolet irradiation in the lens
    • Colitz CM, Bomser JA, Kusewitt DF. The endogenous and exogenous mechanisms for protection from ultraviolet irradiation in the lens. Int Ophthalmol Clin. 2005;45:141-55.
    • (2005) Int Ophthalmol Clin , vol.45 , pp. 141-155
    • Colitz, C.M.1    Bomser, J.A.2    Kusewitt, D.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.