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Kallmann综合征基因研究进展 被引量:1

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出处 《中国妇幼保健》 CAS 北大核心 2009年第27期3898-3900,共3页 Maternal and Child Health Care of China
基金 吉林省科技厅资助项目(200705371)
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同被引文献29

  • 1郝丽君,崔英霞,王云华,商学军,黄宇烽.Kallmann综合征的诊断与鉴别诊断[J].中华男科学杂志,2005,11(10):765-766. 被引量:9
  • 2郝丽君,崔英霞.Kallmann综合征的研究进展[J].中华男科学杂志,2006,12(7):647-649. 被引量:6
  • 3Chung WC, Moyle SS, Tsai PS. Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology, 2008 , 149(10) : 4997-5003.
  • 4Trarbach EB, Abreu AP, Silveira LF. Nonsense mutations in FGF8 gene causing different degrees of human gonadotropinreleasing deficiency. J Clin Endocrinol Metab, 2010, 95 (7): 3491-3496.
  • 5Quinton R, Duke VM, Robertson A, et al. Idiopathic gonadotrophin deficiency: Genetic questions addressed through phenotypic characterization. Clin Endocrinol, 2001, 55(2): 163-174.
  • 6Massin N, Pecheux C, Eloit C, et al. X chromosome-linked Kallmann syndrome: Clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab, 2003, 88(5): 2003-2008.
  • 7Cole LW, Sidis Y, Zhang C, et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum. J Clin Endocrinol Metab, 2008, 93(9) : 3551-3559.
  • 8Pitteloud N, Quinton R, Pearce S, et al. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest, 2007, 117(2) : 457-463.
  • 9Abreu AP, Trarbach EB, de Castro N, et al. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab, 2008, 93 ( 10 ) : 4113-4118.
  • 10Dode C, Hardelin JP. Kallmann Syndrome. Eur J Hum Genet, 2009, 17(2): 139-146.

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