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一例SRY基因阴性性反转男性病例分析 被引量:1

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出处 《中国计划生育学杂志》 北大核心 2008年第12期758-758,762,共2页 Chinese Journal of Family Planning
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参考文献9

  • 1Sinclair AH, Berta P, Palmer MS, et al. A gene from the human sex - determining region encodes a protein with homology to a conserved DNA - binding motif. Nature, 1990, 346 ( 6281 ) : 240 - 244.
  • 2Rajender S, Rajani V, Gupta NJ, et al. SRY - negative 46, XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod,2006,12(5) : 341-346.
  • 3Ergun- Longmire B, Vinci G, Alonso L, et al. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. J Pediatr Endocrinol Metab ,2005,18 ( 8 ) : 739 - 748.
  • 4刘鸿禧,常晓兰,蔡琮,林珏龙,李玫,陶学训.SRY基因检测在性分化异常诊断中的应用[J].中国优生与遗传杂志,2003,11(1):37-39. 被引量:5
  • 5Agata T , Hawkins J R , Taglor A , et al. Sex reversal in a child with a 46 , X Y pt Kargotype : Support for the existence of a gene (s) ,located in distal Xp , involved intestis formation. J Med Genet , 1992 ,29 : 226.
  • 6张晓云,李永全,周汝滨,廖霞,陈小萍.性分化异常患者SRY基因的临床检测[J].中国优生与遗传杂志,2002,10(6):31-33. 被引量:4
  • 7Ostrer H. Sexual differentiation. Semin Reprod Med ,2000 ,18(1 ) : 41-49.
  • 8Barrionuevo F, Bagheri - Fam S, Klattig J, et al. Homozygous inactivation of SOX9 causes complete XY sex reversal in mice. Biol Reprod, 2006, 74(1) : 195-201.
  • 9Seeherunvong T, Perera E M, Bao Y, et al. 46,XX sex reversal with partial duplication of chromosome arm 22q. Am J Med Genet A, 2004, 127(2) :149 - 151.

二级参考文献14

  • 1葛秦生,谷春霞,叶丽珍,林守清,何方方,郁琦.推荐一种性发育异常的分类[J].生殖医学杂志,1994,3(3):131-134. 被引量:26
  • 2郁琦,黄尚志,叶丽珍,冯铃,何方方,叶珏,谷春霞,葛秦生.SRY基因检测对性分化异常诊断和分类的意义[J].生殖医学杂志,1995,4(1):6-10. 被引量:13
  • 3周瑞锦,林国志.真两性畸形病因学研究进展[J].国外医学(泌尿系统分册),1996,16(4):173-175. 被引量:2
  • 4刘鸿禧 李玫 等.t(3;4)平衡易位致习惯性流产1例报道[J].中国的医学生物学研究,1995,1:135-135.
  • 5林巧稚主编.妇科肿瘤[M].北京:人民卫生出版社,1984.64.
  • 6Agata T, Hawkins J R,Taglor A,et al. Sex reversal in a child with a 46, X, Ypt Kargotype: Support for the existence of a gene(s ), located in distal Xp, involved intestis formation. J Med Genet, 1992,29:226
  • 7Ostrer H.Sexual differentiation. Semin Reprod Med,2000,18(1) :41 - 49
  • 8Vilain E, Edward R, et al. Mammalian sex determination: from gonads to brain. Molecular Genetics and Metabolism, 1998,65: 74 - 84
  • 9Sarah F Slaney, et al. An autosomal or X linked mutation results in true hermaphrodites and 46, XX males in the same family. J Med Genet, 1998,35:17 -22
  • 10左饭.医学生物学.第五版,北京:人民卫生出版社,2001:201-202

共引文献7

同被引文献9

  • 1Chaelle A. The etialogy of maleness in XX men[J]. Hum Genet, 1981, 55:105-106.
  • 2Hado HS,Helmy SW,Klemm K,et al. XX male:a rare cause of short stature infertility,gynaecomastia and carcinoma of the breast[J]. Int J Clin Pract, 2003,57 (9) : 844-845.
  • 3Ostrer H. Sexual differentiation[J]. Semin Re rod Med,2000,18(1): 41-49.
  • 4Barrionuevo F, Bagheri-Fam S, Klattig J, et al. Homozygous inacti vation of SOX9 causes complete XY sex reversal in mice[J]. Biol Rerod, 2006,74( 1 ) : 195-201.
  • 5Ohammad S,Varinderal S,Dhillion NJ,et al. Two new novel oint mutations localized ustream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumor formation [J]. Molecular Human Reduction,2004, 10(7):521-526.
  • 6Huang B,Wang S,Ning Y,et al. Autosomal XY sex reversal caused by dulication of SOX9[J]. Am J Med Genet, 1999,87(4):349-353.
  • 7Seeherunvong T,Perera EM,Bao Y,et al. 46,XX sex reversal with artial dulication of chromosome ann 22q[J]. Am J Med GenetA,2004, 127(2) : 149-151.
  • 8Chris O, Emanuele P, Joseh T, et al. Loss of Wnt4 and Foxl2 leads to female to male sex reversal extending to germ cells [J]. Human Molecular Genetics, 2007,6(23 ) : 2795-2804.
  • 9Vorona E,Zitzmann M,Gromoll J,et al. Clinical,endocrine logical, and eigenetic features of the 46,XX male syndrome,comared with 47, XXY Klinefelter atients[J]. J Clin Endocrinol Metab, 2007, 92 (9) : 3458-3465.

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