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Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
Layman LC,
Cohen DP,
Jin M,
Xie J,
Li Z,
Reindollar RH,
Bolbolan S,
Bick DP,
Sherins RR,
Duck LW,
Musgrove LC,
Sellers JC,
Neill JD.
PMID: 9425890 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, et al.
Am J Hum Genet. 2008 Oct; 83(4):511-9. Epub 2008 Oct 2.
[Am J Hum Genet. 2008]
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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
Lin L, Conway GS, Hill NR, Dattani MT, Hindmarsh PC, Achermann JC.
J Clin Endocrinol Metab. 2006 Dec; 91(12):5117-21. Epub 2006 Sep 12.
[J Clin Endocrinol Metab. 2006]
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ReviewHuman gene mutations causing infertility.
Layman LC.
J Med Genet. 2002 Mar; 39(3):153-61.
[J Med Genet. 2002]
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