메뉴 건너뛰기




Volumn 37, Issue 1, 2007, Pages 21-28

Ataxia-Telangiectasia in Iran: Clinical and Laboratory Features of 104 Patients

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; IMMUNOGLOBULIN;

EID: 34447103585     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.03.002     Document Type: Article
Times cited : (71)

References (49)
  • 1
    • 17744386131 scopus 로고    scopus 로고
    • The pathogenesis of ataxia-telangiectasia: learning from a Rosetta Stone
    • Gatti R., Becker-Catania S., Chun H., et al. The pathogenesis of ataxia-telangiectasia: learning from a Rosetta Stone. Clin Rev Allergy Immunol 20 (2001) 87-108
    • (2001) Clin Rev Allergy Immunol , vol.20 , pp. 87-108
    • Gatti, R.1    Becker-Catania, S.2    Chun, H.3
  • 3
    • 0028888903 scopus 로고
    • Ataxia-telangiectasia
    • Gatti R.A. Ataxia-telangiectasia. Dermatol Clin 13 (1995) 1-6
    • (1995) Dermatol Clin , vol.13 , pp. 1-6
    • Gatti, R.A.1
  • 4
    • 0035184902 scopus 로고    scopus 로고
    • The inherited basis of human radiosensitivity
    • Gatti R.A. The inherited basis of human radiosensitivity. Acta Oncol 40 (2001) 702-711
    • (2001) Acta Oncol , vol.40 , pp. 702-711
    • Gatti, R.A.1
  • 5
    • 0242405169 scopus 로고    scopus 로고
    • Ataxia-telangiectasia
    • Vogelstein B., and Kinzler K. (Eds), McGraw-Hill, New York
    • Gatti R. Ataxia-telangiectasia. In: Vogelstein B., and Kinzler K. (Eds). The genetic basis of human cancer. 2nd ed. (2002), McGraw-Hill, New York 239-265
    • (2002) The genetic basis of human cancer. 2nd ed. , pp. 239-265
    • Gatti, R.1
  • 7
    • 0034700243 scopus 로고    scopus 로고
    • Mortality rates among carriers of ataxia-telangiectasia mutant alleles
    • Su Y., and Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med 133 (2000) 770-778
    • (2000) Ann Intern Med , vol.133 , pp. 770-778
    • Su, Y.1    Swift, M.2
  • 8
    • 0036844992 scopus 로고    scopus 로고
    • Primary immunodeficiency in Iran: first report of the National Registry of PID in Children and Adults
    • Aghamohammadi A., Moein M., Farhoudi A., et al. Primary immunodeficiency in Iran: first report of the National Registry of PID in Children and Adults. J Clin Immunol 22 (2002) 375-380
    • (2002) J Clin Immunol , vol.22 , pp. 375-380
    • Aghamohammadi, A.1    Moein, M.2    Farhoudi, A.3
  • 9
    • 0342949426 scopus 로고
    • AFP levels in normal infants: their clinical and physiological significance
    • Mizejewski G.J., and Porter I.H. (Eds), Academic Press, Orlando
    • Wu J., Roan Y., and Knight J. AFP levels in normal infants: their clinical and physiological significance. In: Mizejewski G.J., and Porter I.H. (Eds). Alpha-fetoprotein and congenital disorders (1985), Academic Press, Orlando 111-123
    • (1985) Alpha-fetoprotein and congenital disorders , pp. 111-123
    • Wu, J.1    Roan, Y.2    Knight, J.3
  • 10
    • 0032885176 scopus 로고    scopus 로고
    • Ocular motor abnormalities in ataxia telangiectasia
    • Lewis R.F., Lederman H.M., and Crawford T.O. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 46 (1999) 287-295
    • (1999) Ann Neurol , vol.46 , pp. 287-295
    • Lewis, R.F.1    Lederman, H.M.2    Crawford, T.O.3
  • 11
    • 0017274357 scopus 로고
    • Is chromatid-type damage in ataxia telangiectasia after irradiation at G0 a consequence of defective repair?
    • Taylor A.M., Metcalfe J.A., Oxford J.M., and Harnden D.G. Is chromatid-type damage in ataxia telangiectasia after irradiation at G0 a consequence of defective repair?. Nature 260 (1976) 441-443
    • (1976) Nature , vol.260 , pp. 441-443
    • Taylor, A.M.1    Metcalfe, J.A.2    Oxford, J.M.3    Harnden, D.G.4
  • 13
    • 0001490037 scopus 로고
    • Contribution à l'indépendance de l'athetose double idiopathique et congénitale
    • [In French]
    • Syllaba L., and Henner K. Contribution à l'indépendance de l'athetose double idiopathique et congénitale. [In French]. Rev Neurol 1 (1926) 541-562
    • (1926) Rev Neurol , vol.1 , pp. 541-562
    • Syllaba, L.1    Henner, K.2
  • 14
    • 0002535394 scopus 로고
    • Sur syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et de troubles cérébelleux
    • [In French]
    • Louis-Bar D. Sur syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et de troubles cérébelleux. [In French]. Confin Neurol 4 (1941) 32-42
    • (1941) Confin Neurol , vol.4 , pp. 32-42
    • Louis-Bar, D.1
  • 15
    • 33645174505 scopus 로고
    • Acute ataxia in children
    • [In Dutch]
    • Biemond A. Acute ataxia in children. [In Dutch]. Ned Tijdschr Geneeskd 101 (1957) 529-532
    • (1957) Ned Tijdschr Geneeskd , vol.101 , pp. 529-532
    • Biemond, A.1
  • 16
    • 14444283909 scopus 로고
    • Progressive ataxia in childhood with particular reference to ataxia-telangiectasia
    • Sedgwick R., and Boder E. Progressive ataxia in childhood with particular reference to ataxia-telangiectasia. Neurology 10 (1960) 705-715
    • (1960) Neurology , vol.10 , pp. 705-715
    • Sedgwick, R.1    Boder, E.2
  • 17
    • 0030805899 scopus 로고    scopus 로고
    • Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
    • Concannon P., and Gatti R.A. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat 10 (1997) 100-107
    • (1997) Hum Mutat , vol.10 , pp. 100-107
    • Concannon, P.1    Gatti, R.A.2
  • 18
    • 0034866964 scopus 로고    scopus 로고
    • Consanguinity and its relevance to clinical genetics
    • Bittles A. Consanguinity and its relevance to clinical genetics. Clin Genet 60 (2001) 89-98
    • (2001) Clin Genet , vol.60 , pp. 89-98
    • Bittles, A.1
  • 19
    • 33646062006 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
    • Notarangelo L., Casanova J.L., Conley M.E., et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 117 (2006) 883-896
    • (2006) J Allergy Clin Immunol , vol.117 , pp. 883-896
    • Notarangelo, L.1    Casanova, J.L.2    Conley, M.E.3
  • 21
    • 33745747405 scopus 로고    scopus 로고
    • Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry
    • Rezaei N., Pourpak Z., Aghamohammadi A., et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol 56 (2006) 145-151
    • (2006) Am J Reprod Immunol , vol.56 , pp. 145-151
    • Rezaei, N.1    Pourpak, Z.2    Aghamohammadi, A.3
  • 23
    • 0026612460 scopus 로고
    • Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals
    • Woods C.G., and Taylor A.M. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 82 (1992) 169-179
    • (1992) Q J Med , vol.82 , pp. 169-179
    • Woods, C.G.1    Taylor, A.M.2
  • 24
  • 25
    • 0014045226 scopus 로고
    • Louis-Bar's syndrome (ataxia-telangiectasia): neuropathologic observations
    • Solitare G.B., and Lopez V.F. Louis-Bar's syndrome (ataxia-telangiectasia): neuropathologic observations. Neurology 17 (1967) 23-31
    • (1967) Neurology , vol.17 , pp. 23-31
    • Solitare, G.B.1    Lopez, V.F.2
  • 26
    • 0014443290 scopus 로고
    • Ataxia-telangiectasia: electron microscopic study of a nerve biopsy
    • Gardner M.B., and Goodman W.N. Ataxia-telangiectasia: electron microscopic study of a nerve biopsy. Bull Los Angeles Neurol Soc 34 (1969) 23-38
    • (1969) Bull Los Angeles Neurol Soc , vol.34 , pp. 23-38
    • Gardner, M.B.1    Goodman, W.N.2
  • 27
    • 0024540013 scopus 로고
    • Chromosome instability syndromes
    • 365-71
    • Cohen M., and Levy H. Chromosome instability syndromes. Adv Hum Genet 18 (1989) 43-149 365-71
    • (1989) Adv Hum Genet , vol.18 , pp. 43-149
    • Cohen, M.1    Levy, H.2
  • 28
    • 0034636062 scopus 로고    scopus 로고
    • Quantitative neurologic assessment of ataxia-telangiectasia
    • Crawford T.O., Mandir A.S., Lefton-Greif M.A., et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 54 (2000) 1505-1509
    • (2000) Neurology , vol.54 , pp. 1505-1509
    • Crawford, T.O.1    Mandir, A.S.2    Lefton-Greif, M.A.3
  • 29
    • 0015524106 scopus 로고
    • Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia
    • Waldmann T.A., and McIntire K.R. Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet 2 (1972) 1112-1115
    • (1972) Lancet , vol.2 , pp. 1112-1115
    • Waldmann, T.A.1    McIntire, K.R.2
  • 30
    • 0019955410 scopus 로고
    • Ataxia-telangiectasia: a multiparameter analysis of eight families
    • Gatti R.A., Bick M., Tam C.F., et al. Ataxia-telangiectasia: a multiparameter analysis of eight families. Clin Immunol Immunopathol 23 (1982) 501-516
    • (1982) Clin Immunol Immunopathol , vol.23 , pp. 501-516
    • Gatti, R.A.1    Bick, M.2    Tam, C.F.3
  • 31
    • 0024461719 scopus 로고
    • Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia
    • Kojis T.L., Schreck R.R., Gatti R.A., and Sparkes R.S. Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Hum Genet 83 (1989) 347-352
    • (1989) Hum Genet , vol.83 , pp. 347-352
    • Kojis, T.L.1    Schreck, R.R.2    Gatti, R.A.3    Sparkes, R.S.4
  • 33
    • 0022472723 scopus 로고
    • Mortality and cancer incidence in ataxia-telangiectasia
    • Morrell D., Cromartie E., and Swift M. Mortality and cancer incidence in ataxia-telangiectasia. J Natl Cancer Inst 77 (1986) 89-92
    • (1986) J Natl Cancer Inst , vol.77 , pp. 89-92
    • Morrell, D.1    Cromartie, E.2    Swift, M.3
  • 35
    • 0028200107 scopus 로고
    • Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay
    • Huo Y.K., Wang Z., Hong J.H., et al. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Res 54 (1994) 2544-2547
    • (1994) Cancer Res , vol.54 , pp. 2544-2547
    • Huo, Y.K.1    Wang, Z.2    Hong, J.H.3
  • 36
    • 0036085557 scopus 로고    scopus 로고
    • Early diagnosis of ataxia-telangiectasia using radiosensitivity testing
    • Sun X., Becker-Catania S.G., Chun H.H., et al. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr 140 (2002) 724-731
    • (2002) J Pediatr , vol.140 , pp. 724-731
    • Sun, X.1    Becker-Catania, S.G.2    Chun, H.H.3
  • 37
    • 0020684242 scopus 로고
    • Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome
    • Taalman R.D., Jaspers N.G., Scheres J.M., de Wit J., and Hustinx T.W. Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome. Mutat Res 112 (1983) 23-32
    • (1983) Mutat Res , vol.112 , pp. 23-32
    • Taalman, R.D.1    Jaspers, N.G.2    Scheres, J.M.3    de Wit, J.4    Hustinx, T.W.5
  • 38
    • 0035900911 scopus 로고    scopus 로고
    • Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries
    • Olsen J., Hahnemann J., Borresen-Dale A., et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries. J Natl Cancer Inst 93 (2001) 121-127
    • (2001) J Natl Cancer Inst , vol.93 , pp. 121-127
    • Olsen, J.1    Hahnemann, J.2    Borresen-Dale, A.3
  • 40
    • 0037138442 scopus 로고    scopus 로고
    • TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia
    • Chun H.H., Castellvi-Bel S., Wang Z., et al. TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia. Int J Cancer 97 (2002) 726-731
    • (2002) Int J Cancer , vol.97 , pp. 726-731
    • Chun, H.H.1    Castellvi-Bel, S.2    Wang, Z.3
  • 41
    • 0025356655 scopus 로고
    • Cancer in ataxia-telangiectasia patients
    • Hecht F., and Hecht B.K. Cancer in ataxia-telangiectasia patients. Cancer Genet Cytogenet 46 (1990) 9-19
    • (1990) Cancer Genet Cytogenet , vol.46 , pp. 9-19
    • Hecht, F.1    Hecht, B.K.2
  • 42
    • 0025608077 scopus 로고
    • Cancers in 44 families with ataxia-telangiectasia
    • Morrell D., Chase C., and Swift M. Cancers in 44 families with ataxia-telangiectasia. Cancer Genet Cytogenet 50 (1990) 119-123
    • (1990) Cancer Genet Cytogenet , vol.50 , pp. 119-123
    • Morrell, D.1    Chase, C.2    Swift, M.3
  • 44
    • 0017238344 scopus 로고
    • Malignant neoplasms in the families of patients with ataxia-telangiectasia
    • Swift M., Sholman L., Perry M., and Chase C. Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res 36 (1976) 209-215
    • (1976) Cancer Res , vol.36 , pp. 209-215
    • Swift, M.1    Sholman, L.2    Perry, M.3    Chase, C.4
  • 45
    • 0025276912 scopus 로고
    • Cancer predisposition of ataxia-telangiectasia heterozygotes
    • Swift M., Chase C.L., and Morrell D. Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 46 (1990) 21-27
    • (1990) Cancer Genet Cytogenet , vol.46 , pp. 21-27
    • Swift, M.1    Chase, C.L.2    Morrell, D.3
  • 46
    • 18444369043 scopus 로고    scopus 로고
    • Primary antibody deficiency and diagnostic delay
    • Seymour B., Miles J., and Haeney M. Primary antibody deficiency and diagnostic delay. J Clin Pathol 58 (2005) 546-547
    • (2005) J Clin Pathol , vol.58 , pp. 546-547
    • Seymour, B.1    Miles, J.2    Haeney, M.3
  • 47
    • 0028207156 scopus 로고
    • Consensus on diagnosis and management of primary antibody deficiencies
    • Consensus Panel for the Diagnosis and Management of Primary Antibody Deficiencies
    • Chapel H.M., and Consensus Panel for the Diagnosis and Management of Primary Antibody Deficiencies. Consensus on diagnosis and management of primary antibody deficiencies. BMJ 308 (1994) 581-585
    • (1994) BMJ , vol.308 , pp. 581-585
    • Chapel, H.M.1
  • 48
    • 10744219949 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia: a survey of 33 Iranian patients
    • Moin M., Aghamohammadi A., Farhoudi A., et al. X-linked agammaglobulinemia: a survey of 33 Iranian patients. Immunol Invest 33 (2004) 81-93
    • (2004) Immunol Invest , vol.33 , pp. 81-93
    • Moin, M.1    Aghamohammadi, A.2    Farhoudi, A.3
  • 49
    • 22244489355 scopus 로고    scopus 로고
    • Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency
    • Aghamohammadi A., Farhoudi A., Moin M., et al. Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency. Clin Diagn Lab Immunol 12 (2005) 825-832
    • (2005) Clin Diagn Lab Immunol , vol.12 , pp. 825-832
    • Aghamohammadi, A.1    Farhoudi, A.2    Moin, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.