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Volumn 42, Issue 2, 2010, Pages 151-153

Schmid-Fraccaro Syndrome: Severe Neurologic Features

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CHLORPROMAZINE; CLONAZEPAM; DIAZEPAM; PARACETAMOL;

EID: 73449092186     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.07.020     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0000173015 scopus 로고
    • Chromosomes in coloboma and anal atresia
    • Schachenmann G., Schmid W., Fraccaro M., et al. Chromosomes in coloboma and anal atresia. Lancet 2 (1965) 290
    • (1965) Lancet , vol.2 , pp. 290
    • Schachenmann, G.1    Schmid, W.2    Fraccaro, M.3
  • 2
    • 0022479573 scopus 로고
    • Characterization of the supernumerary chromosome in cat eye syndrome
    • McDermid H.E., Duncan A.M.V., Brasch K.R., et al. Characterization of the supernumerary chromosome in cat eye syndrome. Science 232 (1986) 646-648
    • (1986) Science , vol.232 , pp. 646-648
    • McDermid, H.E.1    Duncan, A.M.V.2    Brasch, K.R.3
  • 3
    • 0019461128 scopus 로고
    • The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter-q11) associated with a characteristic phenotype
    • Schinzel W.S., Schmid W., Fraccaro M., et al. The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter-q11) associated with a characteristic phenotype. Hum Genet 57 (1981) 148-158
    • (1981) Hum Genet , vol.57 , pp. 148-158
    • Schinzel, W.S.1    Schmid, W.2    Fraccaro, M.3
  • 4
    • 0042779682 scopus 로고    scopus 로고
    • Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with a typical cat eye syndrome
    • e62
    • Meins M., Burfeind P., Motsch S., et al. Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with a typical cat eye syndrome. J Med Genet 40 (2003) e62
    • (2003) J Med Genet , vol.40
    • Meins, M.1    Burfeind, P.2    Motsch, S.3
  • 5
    • 17944365053 scopus 로고    scopus 로고
    • Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere
    • Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., and Bridgland L. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res 11 (2001) 1053-1070
    • (2001) Genome Res , vol.11 , pp. 1053-1070
    • Footz, T.K.1    Brinkman-Mills, P.2    Banting, G.S.3    Maier, S.A.4    Riazi, M.A.5    Bridgland, L.6
  • 6
    • 0029161489 scopus 로고
    • Minute supranumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region
    • Mears A.J., El-Shanti H., Murray J.C., McDermid H.E., and Patil S.R. Minute supranumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region. Am J Hum Genet 57 (1995) 667-673
    • (1995) Am J Hum Genet , vol.57 , pp. 667-673
    • Mears, A.J.1    El-Shanti, H.2    Murray, J.C.3    McDermid, H.E.4    Patil, S.R.5
  • 7
  • 9
    • 33745686136 scopus 로고    scopus 로고
    • A complex rearrangement on chromosome 22 affecting both homologues: Haplo-insufficiency of the cat eye syndrome region may have no clinical relevance
    • Kriek M., Szuhai K., Kant S.G., et al. A complex rearrangement on chromosome 22 affecting both homologues: Haplo-insufficiency of the cat eye syndrome region may have no clinical relevance. Hum Genet 120 (2006) 77-84
    • (2006) Hum Genet , vol.120 , pp. 77-84
    • Kriek, M.1    Szuhai, K.2    Kant, S.G.3
  • 10
    • 0019511310 scopus 로고
    • The aetiology of the cat eye syndrome reconsidered
    • Guanti G. The aetiology of the cat eye syndrome reconsidered. J Med Genet 18 (1981) 108-118
    • (1981) J Med Genet , vol.18 , pp. 108-118
    • Guanti, G.1
  • 12
    • 73449129697 scopus 로고    scopus 로고
    • Available at:, Accessed March 1, 2009
    • Cat eye syndrome. Available at: http://www.c22c.org/. Accessed March 1, 2009.
    • Cat eye syndrome
  • 13
    • 28344450732 scopus 로고    scopus 로고
    • Cat-eye syndrome with isolated idiopathic hypogonodotropic hypogonadism
    • Matsumoto R., Shimizu C., Nagai S., et al. Cat-eye syndrome with isolated idiopathic hypogonodotropic hypogonadism. Intern Med 44 (2005) 1069-1073
    • (2005) Intern Med , vol.44 , pp. 1069-1073
    • Matsumoto, R.1    Shimizu, C.2    Nagai, S.3
  • 14
    • 0024420848 scopus 로고
    • A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat eye syndrome
    • Luleci G., Bagci G., Kivran M., Luleci E., Bektas S., and Basaran S. A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat eye syndrome. Hereditas 111 (1989) 7-10
    • (1989) Hereditas , vol.111 , pp. 7-10
    • Luleci, G.1    Bagci, G.2    Kivran, M.3    Luleci, E.4    Bektas, S.5    Basaran, S.6
  • 15
    • 0017038640 scopus 로고
    • Le syndrome des yeux de chat. Etude chromosomique et conseil genetique
    • Noel B., Ayraud N., Levy M., and Cau D. Le syndrome des yeux de chat. Etude chromosomique et conseil genetique. J Genet Hum 24 (1976) 279-291
    • (1976) J Genet Hum , vol.24 , pp. 279-291
    • Noel, B.1    Ayraud, N.2    Levy, M.3    Cau, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.