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DiGeorge综合征3例诊治体会 被引量:4

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作者 潘高峰 李斌
出处 《郑州大学学报(医学版)》 CAS 北大核心 2010年第1期153-155,共3页 Journal of Zhengzhou University(Medical Sciences)
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参考文献5

  • 1胡亚美 江载芳.诸福棠实用儿科学[M]:7版[M].北京:人民卫生出版社,2002.1294.
  • 2Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for T-box gene-Tbx1 [ J]. Nat Genet, 2001,27(3) :286.
  • 3Yagi H, Fumtani Y, Hamada H, et al. Role of TBXI in human de122q11. 2 syndrome [J]. Lancet, 2003, 362 (9 393) :1 366.
  • 4Barnea Goraly N, Menon V, Krasnow B, et al. Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study[ J]. Am J Psychiatry,2003,160(10):1 863.
  • 5Markert ML, Alexieff M J, Li J, et al. Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome [ J ]. Blood,2004,104 ( 8 ) : 2 574.

共引文献107

同被引文献42

  • 1张琳,李菁,高金梅.DiGeorge综合征一例[J].中国小儿急救医学,2007,14(1):74-74. 被引量:1
  • 2胡亚美,江载芳.诸福棠实用儿科学[M].7版.北京:人民卫生出版社,2002:632-636.
  • 3Ozer L, Lembet A, Ugurlu N, et al. Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm [ J ]. Turk J Pediatr, 2012,54 ( 1 ) :74- 76.
  • 4沈庆村,吴美环.儿童心脏病学[M].上海:复旦大学出版社,2011:39.
  • 5Antshel KM, Abdulsabur N, Roizen N,et al. Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS) [ J ]. Bey Neuropsyehol,2005,28 ( 3 ) : 849.
  • 6MeDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome[ M ]. Seattle:Press of University of Wash- ington, 1999.
  • 7Piran S, Bassett AS, Grewal J, et al. Patterns of cardiac and extracardiac anomalies in adults with tetralogy of Fallot [J].Am Heart J,2011,161(1):131.
  • 8Looman WS, Thurmes AK, O onner-Von SK, et al. Quality of life among children with velocardiofacial syndrome [ J ]. Cleft Palate Craniofac J ,2010,47 ( 3 ) :273.
  • 9Cordovez JA, Capasso J, Lingao MD, et al. Ocular manifes- tations of 22ql 1. 2 microduplication [ J ]. Ophthalmology, 2014,121 ( 1 ) :392.
  • 10Mcdonald-Mcginn DM, Fahiminiya S, Revil T, et al. Hemi- zygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS[ J]. J Med Genet,2013,50(2) :80.

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