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Volumn 38, Issue 1, 2008, Pages 77-81

Seckel syndrome with spontaneous chromosomal instability

Author keywords

Chromosomal breakage syndrome; Chromosomal instability; Seckel syndrome

Indexed keywords

BIOMEDICAL ENGINEERING; CELL GROWTH; DNA; GENES; PATHOGENS; PATIENT MONITORING;

EID: 40449124251     PISSN: 13000144     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (15)
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    • Chanan-Khan A, Holkova B, Perle MA, Reich E, Wu CD, Inghirami G et al. T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. Haematologica 2003; 88: ECR14.
    • (2003) Haematologica , vol.88
    • Chanan-Khan, A.1    Holkova, B.2    Perle, M.A.3    Reich, E.4    Wu, C.D.5    Inghirami, G.6
  • 3
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    • Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature
    • Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RV. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet 1997; 70: 155-8.
    • (1997) Am J Med Genet , vol.70 , pp. 155-158
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  • 4
    • 0028968911 scopus 로고
    • Severe intrauterine growth retardation with increased mitomycin C sensitivity: A further chromosome breakage syndrome
    • Woods CG, Leversha M, Rogers JG. Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome. J Med Genet 1995; 32: 301-5.
    • (1995) J Med Genet , vol.32 , pp. 301-305
    • Woods, C.G.1    Leversha, M.2    Rogers, J.G.3
  • 5
    • 0023278875 scopus 로고
    • Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
    • Butler MG, Hall BD, Maclean RN, Lozzio CB. Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? Am J Med Genet 1987; 27: 645-9.
    • (1987) Am J Med Genet , vol.27 , pp. 645-649
    • Butler, M.G.1    Hall, B.D.2    Maclean, R.N.3    Lozzio, C.B.4
  • 8
    • 4544333154 scopus 로고    scopus 로고
    • Chromosomal instability at common fragile sites in Seckel syndrome
    • Casper AM, Durkin SG, Arlt MF, Glover TW. Chromosomal instability at common fragile sites in Seckel syndrome. Am J Hum Genet 2004; 75: 654-60.
    • (2004) Am J Hum Genet , vol.75 , pp. 654-660
    • Casper, A.M.1    Durkin, S.G.2    Arlt, M.F.3    Glover, T.W.4
  • 9
    • 0035400045 scopus 로고    scopus 로고
    • Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies
    • Silengo M, Del Monaco A, Linari A, Lala R. Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. Am J Med Genet 2001; 101: 275-8.
    • (2001) Am J Med Genet , vol.101 , pp. 275-278
    • Silengo, M.1    Del Monaco, A.2    Linari, A.3    Lala, R.4
  • 10
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    • Two Japanese cases with microcephalic primordial dwarfism: Classical Seckel syndrome and osteodysplastic primordial dwarfism type II
    • Sugio Y, Tsukahara M, Kajii T. Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Genet 1993; 38: 209-17.
    • (1993) Jpn J Hum Genet , vol.38 , pp. 209-217
    • Sugio, Y.1    Tsukahara, M.2    Kajii, T.3
  • 12
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    • Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability
    • Syrrou M, Georgiou I, Paschopoulos M, Lolis D. Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability. Genet Couns 1995; 6: 37-41.
    • (1995) Genet Couns , vol.6 , pp. 37-41
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  • 15
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    • A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
    • O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 2003; 33: 497-501.
    • (2003) Nat Genet , vol.33 , pp. 497-501
    • O'Driscoll, M.1    Ruiz-Perez, V.L.2    Woods, C.G.3    Jeggo, P.A.4    Goodship, J.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.