메뉴 건너뛰기




Volumn 2, Issue 1, 2009, Pages

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2; CHROMOSOME DELETION; CLINICAL ASSESSMENT; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; HEARING IMPAIRMENT; HUMAN; JACOBSEN SYNDROME; MALE; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; THROMBOCYTE DYSFUNCTION;

EID: 74349117729     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-2-26     Document Type: Article
Times cited : (12)

References (17)
  • 1
    • 0015707559 scopus 로고
    • An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study
    • 10.1159/000152624. 4134631
    • An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. P Jacobsen M Hauge K Henningsen N Hobolth M Mikkelsen J Philip, Hum Hered 1973 23 568 585 10.1159/000152624 4134631
    • (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
  • 2
    • 0017565501 scopus 로고
    • Partial deletion of long arm of chromosome 11 del 11q23: Jacobsen syndrome
    • 10.1136/jmg.14.6.438. 604495
    • Partial deletion of long arm of chromosome 11 del 11q23: Jacobsen syndrome. A Schinzel P Auf de Maur H Moser, J Med Genet 1977 14 438 444 10.1136/jmg.14.6.438 604495
    • (1977) J Med Genet , vol.14 , pp. 438-444
    • Schinzel, A.1    Auf De Maur, P.2    Moser, H.3
  • 3
    • 0024580671 scopus 로고
    • Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism
    • DOI 10.1002/ajmg.1320320207
    • Holoprosencephaly, ear abnormalities, congenital heart defect and microphallus in a patient with 11q-mosaicism. RA Helmuth DD Weaver ER Wills, Am J Med Genetic 1989 32 178 181 10.1002/ajmg.1320320207 (Pubitemid 19079368)
    • (1989) American Journal of Medical Genetics , vol.32 , Issue.2 , pp. 178-181
    • Helmuth, R.A.1    Weaver, D.D.2    Wills, E.R.3
  • 4
    • 55449121029 scopus 로고    scopus 로고
    • Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3)
    • 10.1002/ajmg.a.32490. 18792974
    • Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3). J Bernaciak K Szczauba K Derwĩska B Wis'niowiecka-Kowalnik E Bocian MM Sasiadek I Makowska P Stankiewicz R Smigiel, Am J Med Genet A 2008 146A 2449 2454 10.1002/ajmg.a.32490 18792974
    • (2008) Am J Med Genet A , vol.146 , pp. 2449-2454
    • Bernaciak, J.1    Szczauba, K.2    Derwĩska, K.3    Wis'niowiecka-Kowalnik, B.4    Bocian, E.5    Sasiadek, M.M.6    Makowska, I.7    Stankiewicz, P.8    Smigiel, R.9
  • 10
    • 0023002094 scopus 로고
    • Distal 11q monosomy. the typical 11q monosomy syndrome is due to deletion of subband 11q24.1
    • 3791674
    • Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. JP Fryns A Kleczkowska M Buttiens P Marien H van den Berghe, Clin Genet 1986 30 255 260 3791674
    • (1986) Clin Genet , vol.30 , pp. 255-260
    • Fryns, J.P.1    Kleczkowska, A.2    Buttiens, M.3    Marien, P.4    Den Van, B.H.5
  • 12
    • 33646917855 scopus 로고    scopus 로고
    • Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome
    • 10.1002/ajmg.a.31146. 16502431
    • Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. SL Wenger PD Grossfeld BL Siu JE Coad FG Keller M Hummel, Am J Med Genet 2006 140 704 708 10.1002/ajmg.a.31146 16502431
    • (2006) Am J Med Genet , vol.140 , pp. 704-708
    • Wenger, S.L.1    Grossfeld, P.D.2    Siu, B.L.3    Coad, J.E.4    Keller, F.G.5    Hummel, M.6
  • 15
    • 33646137579 scopus 로고    scopus 로고
    • Expression of ADAMTS-8, a secreted protease with antiangiogenic properties, is downregulated in brain tumours
    • 10.1038/sj.bjc.6603006. 16570050
    • Expression of ADAMTS-8, a secreted protease with antiangiogenic properties, is downregulated in brain tumours. JR Dunn JE Reed DG du Plessis EJ Shaw P Reeves AL Gee P Warnke C Walker, Br J Cancer 2006 94 1186 1193 10.1038/sj.bjc.6603006 16570050
    • (2006) Br J Cancer , vol.94 , pp. 1186-1193
    • Dunn, J.R.1    Reed, J.E.2    Du Plessis, D.G.3    Shaw, E.J.4    Reeves, P.5    Gee, A.L.6    Warnke, P.7    Walker, C.8
  • 17
    • 0033714882 scopus 로고    scopus 로고
    • Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia
    • 10.1016/S1074-7613(00)00017-0. 10981960
    • Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. A Hart F Melet P Grossfeld K Chien C Jones A Tunnacliffe R Favier A Bernstein, Immunity 2000 13 167 177 10.1016/S1074-7613(00)00017-0 10981960
    • (2000) Immunity , vol.13 , pp. 167-177
    • Hart, A.1    Melet, F.2    Grossfeld, P.3    Chien, K.4    Jones, C.5    Tunnacliffe, A.6    Favier, R.7    Bernstein, A.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.