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男性假两性畸形睾丸女性化综合征两例 被引量:2

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出处 《中华医学遗传学杂志》 CAS CSCD 2004年第5期462-462,共1页 Chinese Journal of Medical Genetics
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  • 1蒋三亮,张思仲,杨军.性反转综合征患者的分子病因学研究[J].中华医学遗传学杂志,1993,10(1):18-19. 被引量:17
  • 2郭小宝,阮永铭,李文典,崔娓.9号染色体臂间倒位的遗传效应分析[J].中华医学遗传学杂志,2006,23(3):365-365. 被引量:38
  • 3Veitia R, Ion A, Barbanx S, et al. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46, XY female phenotype[J]. Hum Genet, 1997,99:648-52.
  • 4Biason-lauber A. Control of sex development[J]. Best Pract Res Clin Endocrinol metab, 2010,24 (2) :163-186.
  • 5Haghes IA. Disorder of sex development :a hew definitioh and classification[J]. Best Pratt Res Clin Endocrinol Metab, 2008,22 (1) :119-134.
  • 6Roy Homburg. Anti-Mullerian hormone still shronded in mystery[J]. Focus on Reproduction, May, 2014, 20-23.
  • 7Domenice S, Corra RV, Costa EM, et al. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients[J]. Braz J Med Biol Res, 2004, 37 : 145-50.
  • 8Lin L, Philibert P, Ferraz-de-Souza B, et al. Heterozygous missense mutations in steroidogenic factor 1 (SFI/Ad4BP, NRSA1 ) are associated with 46, XY disorders of sex development with normal adrenal function[J]. J Clin Endocrinol Metab, 2007, 92:991-9.
  • 9Vinci G, Chantot-Bastaraud S, E1 Houate B, et al. Association of deletion 9p, 46, XY gonadal dysgenesis and autistic spectrum disorder[J]. Molecular Human Reproduction, 2007, 13 (9) : 685-689.
  • 10Yuko K F, Kanako M, Tomoko K, et al. Cbx2, a Polycomb Group Gene, Is Required for Sry Gene Expression in Mice[J]. Endocrinology, 2012, 153 (2) :913-924.

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