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Volumn 140 A, Issue 4, 2006, Pages 378-382

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion

Author keywords

Bipolar affective disorder; Jacobsen syndrome

Indexed keywords

ADULT; ARTICLE; BIPOLAR DISORDER; BRAIN; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; DEMYELINATION; DISEASE ASSOCIATION; DNA POLYMORPHISM; FACE MALFORMATION; HOSPITAL ADMISSION; HUMAN; JACOBSEN SYNDROME; LABORATORY TEST; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REAL TIME POLYMERASE CHAIN REACTION; SHORT STATURE; THROMBOCYTE COUNT; WHITE MATTER;

EID: 32444446725     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31088     Document Type: Article
Times cited : (17)

References (26)
  • 1
    • 1842715120 scopus 로고    scopus 로고
    • Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye
    • Boehra D, Herold S, Kuechler A, Liehr T, Laccone F. 2004. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat 23:368-378.
    • (2004) Hum Mutat , vol.23 , pp. 368-378
    • Boehra, D.1    Herold, S.2    Kuechler, A.3    Liehr, T.4    Laccone, F.5
  • 2
    • 44949287159 scopus 로고
    • Improvements in localized proton NMR spectroscopy of human brain. Water suppression, short echo times, and 1 ml resolution
    • Frahm J, Michaelis T, Merboldt KD, Brunn H, Gyngell ML, Hänicke W. 1990. Improvements in localized proton NMR spectroscopy of human brain. Water suppression, short echo times, and 1 ml resolution. J Magn Reson 90:464-473.
    • (1990) J Magn Reson , vol.90 , pp. 464-473
    • Frahm, J.1    Michaelis, T.2    Merboldt, K.D.3    Brunn, H.4    Gyngell, M.L.5    Hänicke, W.6
  • 3
    • 0023002094 scopus 로고
    • Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24
    • Fryns JP, Kleczkowska A, Buttiens M, Marien P, van den Berg H. 1986. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24. Clin Genet 30:255-260.
    • (1986) Clin Genet , vol.30 , pp. 255-260
    • Fryns, J.P.1    Kleczkowska, A.2    Buttiens, M.3    Marien, P.4    Van Den Berg, H.5
  • 6
    • 0015707559 scopus 로고
    • An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study
    • Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. 1973. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23:568-585.
    • (1973) Hum Hered , vol.23 , pp. 568-585
    • Jacobsen, P.1    Hauge, M.2    Henningsen, K.3    Hobolth, N.4    Mikkelsen, M.5    Philip, J.6
  • 7
    • 0042622386 scopus 로고    scopus 로고
    • Beta-1,3-glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation
    • Jeffries AR, Mungall AJ, Dawson E, Halls K, Langford CF, Murray RM, Dunham I, Powell JF. 2003. Beta-1,3-glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation. Mol Psychiatry 8:654-663.
    • (2003) Mol Psychiatry , vol.8 , pp. 654-663
    • Jeffries, A.R.1    Mungall, A.J.2    Dawson, E.3    Halls, K.4    Langford, C.F.5    Murray, R.M.6    Dunham, I.7    Powell, J.F.8
  • 10
    • 0342424768 scopus 로고    scopus 로고
    • Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage
    • Jones C, Mullenbacb R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F. 2000. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage. Hum Mol Genet 9:1201-1208.
    • (2000) Hum Mol Genet , vol.9 , pp. 1201-1208
    • Jones, C.1    Mullenbacb, R.2    Grossfeld, P.3    Auer, R.4    Favier, R.5    Chien, K.6    James, M.7    Tunnacliffe, A.8    Cotter, F.9
  • 15
    • 0028030175 scopus 로고
    • Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes
    • Neavel CB, Soukup S. 1994. Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 53:321-324.
    • (1994) Am J Med Genet , vol.53 , pp. 321-324
    • Neavel, C.B.1    Soukup, S.2
  • 19
    • 0029745041 scopus 로고    scopus 로고
    • Jacobsen syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases
    • Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT. 1996. Jacobsen syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 33:772-778.
    • (1996) J Med Genet , vol.33 , pp. 772-778
    • Pivnick, E.K.1    Velagaleti, G.V.2    Wilroy, R.S.3    Smith, M.E.4    Rose, S.R.5    Tipton, R.E.6    Tharapel, A.T.7
  • 20
    • 0032825441 scopus 로고    scopus 로고
    • Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS
    • Pouwels PJW, Brockmann K, Kruse B, Wilken B, Wick M, Hanefeld F. 1999. Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res 46:474-485.
    • (1999) Pediatr Res , vol.46 , pp. 474-485
    • Pouwels, P.J.W.1    Brockmann, K.2    Kruse, B.3    Wilken, B.4    Wick, M.5    Hanefeld, F.6
  • 21
    • 0027375098 scopus 로고
    • Estimation of metabolite concentrations from localized in vivo proton NMR spectra
    • Provencher SW. 1993. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 30:672-679.
    • (1993) Magn Reson Med , vol.30 , pp. 672-679
    • Provencher, S.W.1
  • 24
    • 0025174969 scopus 로고
    • Partial deletion of the long arm of chromosome 11 [del(11)(q23. 3→qter)] with abnormal white matter
    • Wardinsky TD, Weinberger E, Pagon KA, Clarren SK, Thuline HC. 1990. Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter. Am J Med Genet 35:60-63.
    • (1990) Am J Med Genet , vol.35 , pp. 60-63
    • Wardinsky, T.D.1    Weinberger, E.2    Pagon, K.A.3    Clarren, S.K.4    Thuline, H.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.