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脊肌萎缩症遗传流行病学研究进展 被引量:1

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出处 《中国公共卫生》 CAS CSCD 北大核心 2008年第3期378-380,共3页 Chinese Journal of Public Health
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  • 1郐艳荣,李晓红,左文莉.脊肌萎缩症的分子遗传学研究进展[J].中国优生与遗传杂志,2006,14(4):1-4. 被引量:4
  • 2郑瑞凤.少年型家系性进行性脊肌萎缩症一个家系报告.中风与神经疾病杂志,2000,2:100-100.
  • 3彭蓉,陈文军,徐严明,曾艳,袁光固.远端型脊肌萎缩症一家系[J].中华神经科杂志,2006,39(4):280-280. 被引量:2
  • 4Barealo M J, Alias L, Caselles L, et al. Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis [ J ]. Genetics in medicine: Official Journal of the American College of Medical Genetics, 2006, 8:259 - 262.
  • 5Mishra VN, Kalita J, Kesari A, et al. A clinical and genetic study of spinal muscular atrophy [ J ]. Electromyography and Clinical NeuroDhvsiology. 2004, 44:307 - 312.
  • 6李彤,刘平,袁彬.成年远端型进行性脊髓肌萎缩症一家系报告[J].新乡医学院学报,1996,13(2):162-165. 被引量:1
  • 7吕海东 张燕 潘奇芳.少年型家族性脊肌萎缩症一家系二例.中华医学遗传学杂志,1999,16(3):202-202.
  • 8王继明,刘玉祯,马文龙,张强胜,周顺林,陈金亮.远端型脊肌萎缩症一家系九例[J].中华医学遗传学杂志,2006,23(5):600-600. 被引量:2
  • 9Tashiro K, Kikuchis S, Itoyama Y, et al. Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan [ J ]. Amyotrophic Lateral Sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2006, 7 ( 1 ) : 38 - 45.
  • 10Khanh TV, Takeshima Y, Harana Y, et al. Molecular genetic analysis of five Vietnamese patients with spinal muscular atrophy[J]. The Kobe Journal of Medical Sciences, 2002, 48:177 - 182.

二级参考文献102

  • 1赖福生,王一芳,李翠萍,宫丽莉,赵伯成,唐晓阳,王晓萍,卢少军,许爱刚,易萍,朱浩.自体骨髓有核细胞蛛网膜下腔移植治疗运动神经元病的临床研究[J].临床神经病学杂志,2005,18(1):10-12. 被引量:8
  • 2项全申.实用小儿神经病学[M].北京:人民卫生出版社,1983.461-463.
  • 3[1]王维治主编.临床神经病学[M].第4版.北京:人民卫生出版社,2002.118~121.
  • 4梁秀龄.神经系统遗传性疾病[M].北京:人民军医出版社,2001.3-8.
  • 5Daniels R J,Suthers G K,Morrison K E,et al.Prenatal prediction of spinal muscular atrophy[J].J Med Genet,1992,29(3):165-170.
  • 6Mackenzie A,Besner A,Roy N.Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA[J].J Med Genet,1993,30(2):162-163.
  • 7Melki J,Abdelha K S,Burlet P,et al.Prenatal prediction of Werdning-hoffmann disease using linked polymorphic DNA probes[J].J Med Genet,1992,29(3):171-174.
  • 8Wang CH,et al.A multicopy dinucleotide that maps close to the spinal muscular atrophy[J].Am J Hum Genet,1995,56:202.
  • 9Erdem H,Dayangac D,Pehlivan S,et al.Prenatal diagnosis of spinal muscular atrophy in Turkish families[J].Cent Eur J Pubic Health,2001,9(1):35-37.
  • 10Parsons DW,McAndrew PE,et al.Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis[J].J Med Genet,1998a,35:674-676.

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