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先天性睑裂狭小综合征的遗传学研究进展 被引量:2

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出处 《中国实用眼科杂志》 CSCD 北大核心 2005年第8期777-778,共2页 Chinese Journal of Practical Ophthalmology
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  • 1Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis,and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet, 1983, 35: 1020- 1027.
  • 2Fukushima Y, Wakui K, Nishida T, et al. Blepharophimosis .sequence and de novo balanced autosomal translocation [46, XY, t(3, 4) (q23; 15. 2]: possible assigimlent of the trait to 3q23.Am J MedGenet, 1991, 40:485-487.
  • 3Harrar HS, Jeffery S, Patton M. Linkage analysis in blepharophimosis- ptosis syndrome confirms localisation to 3q21 - 24. J Med Genet, 1995, 32:774-777.
  • 4Small KW, Stalvey M, Fisher L, et al. Blephamphimosis syndrome is linked to chromomme 3q. Hum Mol Genet, 1995, 4:443 - 448.
  • 5张为民,逄惠,施惠平,黄尚志.睑裂狭小、倒转型内眦赘皮和上睑下垂综合征Ⅰ型相关基因的定位[J].中华医学遗传学杂志,2001,18(1):8-10. 被引量:11
  • 6Crisoponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epi-canthus inversus syndrome. Nat Genet, 2001, 27: 159- 166.
  • 7De Baere E, Dixon MJ, Small KW, et al. Spectrum of FOXL2 gene mutations in blepharophimosis - ptosis - epicanthus inversus(BPES) families demonstrates a genotype- phenotype correlation.Hum Mol Genet, 2001, 10:1591 - 1600.
  • 8Elfride De Baere, Diane Beysen, Christine Oley, et al. FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype - Phenotype Correlation. Am J Hum.Genet, 2003, 72:478-487.
  • 9Qian X, Shu A, Qin W, et al. A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis- ptosis- epicanthus inversus. Murat Res, 2004, 554 ( 1 -2): 19-22.

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