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女性部分性Kallmann综合征延误诊断1例 被引量:1

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出处 《第四军医大学学报》 CAS 北大核心 2009年第1期32-32,共1页 Journal of the Fourth Military Medical University
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参考文献2

  • 1Vermeulen S, Messiaen L, Scheir P. Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion [J]. Am J Med Genet, 2002,108(4) :315 -318.
  • 2南勋义,李永海,党建功,刘润明,邢俊平,王明珠.非典型性Kallmann综合征[J].中华泌尿外科杂志,1999,20(2):118-119. 被引量:5

二级参考文献3

  • 1邓春华,中华泌尿外科杂志,1997年,18卷,298页
  • 2刘新民,实用内分泌学(第2版),1997年,653页
  • 3黄平治,男性性功能障碍,1992年,122页

共引文献4

同被引文献37

  • 1Hardelin JP, Dode C. The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev, 2008, 2 : 181-193.
  • 2Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet, 2003, 33:463-465.
  • 3Sato N, Hasegawa T, Hori N, et al. Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor I : report of three families : case report. Hum Reprod, 2005, 20:2173-2178.
  • 4Sato N, Katsumata N, Kagami M, et al. Clinical assessment and mutation analysis of Kallmann syndrome 1 ( KAL1 ) and fibroblast growth factor receptor 1 (FGFR1 or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab, 2004, 89: 1079- 1088.
  • 5Matsuo T, Okamoto S, Izumi Y, et al. A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome. Eur J Endocrinol, 2000, 143:783-787.
  • 6Jenkin A, Renner D, Hahn F, et al. A case of primary amenorrhea, diabetes and anosmia. Gynecol Endocrinol, 2000, 14:65-70.
  • 7Mano T, Yamamoto M, Suzuki K. A case of two successful deliveries by a woman with Kallmann syndrome and NIDDM. Nippon Naibunpi Gakkai Zasshi, 1991, 67:57-64.
  • 8Pitteloud N, Zhang C, Pignatelli D, et al. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and nonnosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A, 2007, 104:17447-17452.
  • 9Szilotgyi A, Manfai Z, Kiesel L, et al. Kallmann's syndrome: pregnancy through intracytoplasmic sperm injection and complicated by gestational diabetes. Gynecol Endocrinol, 2001, 15:325-327.
  • 10Quinton R, Duke VM, de Zoysa PA, et al. The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab, 1996, 81:3010-3017.

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