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Turner综合征 被引量:16

Turner syndrome
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作者 梁雁 罗小平
出处 《中国实用儿科杂志》 CSCD 北大核心 2005年第8期460-463,共4页 Chinese Journal of Practical Pediatrics
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参考文献12

  • 1Temtamy SA,Ghali I,Salam MA,et al.Karyotype/phenotype correlation in females with short stature.Clin Genet,1992,41(3):147-151.
  • 2Leppig KA,Sybert VP,Ross JL,et al.Phenotype and X inactivation in 45,X/46,X,r(X) cases.Am J Med Genet,2004,128(3):276-284.
  • 3Takeuchi K,Oomori S,Oda N,et al.Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia.Eur J Gynaecol Oncol,2003,24(5):379-380.
  • 4Mancilla EE,Poggi H,Repetto G,et al.Y chromosome sequences in Turner's syndrome:association with virilization and gonadoblastoma.J Pediatr Endocrinol Metab,2003,16(8):1157-1163.
  • 5Graham BH,Bacino CA.Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.Am J Med Genet A,2003,119(2):234-237.
  • 6Kim JW,Cho EH,Kim YM,et al.Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome.Exp Mol Med,2000,32(1):38-41.
  • 7Saenger P,Wikland KA,Conway GS,et al.Recommendations for the diagnosis and management of Turner syndrome.J Clin Endocrinol Metab,2001,86(7):3061-3069.
  • 8梁雁,魏虹,林汉华,罗小平.2064例细胞遗传学分析临床与优生意义[J].临床儿科杂志,2003,21(7):403-406. 被引量:14
  • 9Binder G,Schwarze P,Ranke MB.Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.J Clin Endocrinol Metab,2000,85(1):245-249.
  • 10Sas TCJ,de Muinck Keizer-Schrama SM,Stjnen T,et al.Normalization of height in girls with Turner syndrome after long-term growth hormone treatment:results of a randomized dose-response trial.J Clin Endocrinol Metab,1999,84(12 ):4607-4612.

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引证文献16

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