Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies.
作者信息
Trarbach Ericka B
出版信息
Asian J Androl. 2011 Mar;13(2):203-4. doi: 10.1038/aja.2010.115. Epub 2010 Nov 8.
Abstract
摘要
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2
The clinical context of copy number variation in the human genome.人类基因组中拷贝数变异的临床背景。
Expert Rev Mol Med. 2010 Mar 9;12:e8. doi: 10.1017/S1462399410001390.
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Genetics basis for GnRH-dependent pubertal disorders in humans.人类 GnRH 依赖性青春期障碍的遗传学基础。
Mol Cell Endocrinol. 2010 Aug 5;324(1-2):30-8. doi: 10.1016/j.mce.2010.02.023. Epub 2010 Feb 25.
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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.卡尔曼综合征的复杂遗传学：KAL1、FGFR1、FGF8、PROKR2、PROK2等
Sex Dev. 2008;2(4-5):181-93. doi: 10.1159/000152034. Epub 2008 Nov 5.
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Systematic assessment of copy number variant detection via genome-wide SNP genotyping.通过全基因组单核苷酸多态性基因分型对拷贝数变异检测进行系统评估。
Nat Genet. 2008 Oct;40(10):1199-203. doi: 10.1038/ng.236. Epub 2008 Sep 7.
6
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.拷贝数变异与遗传性状：更接近表型到基因型变异性的解析
Nat Rev Genet. 2007 Aug;8(8):639-46. doi: 10.1038/nrg2149.
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Hypogonadotropic hypogonadism.低促性腺激素性性腺功能减退症。
Endocrinol Metab Clin North Am. 2007 Jun;36(2):283-96. doi: 10.1016/j.ecl.2007.03.010.
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Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.疾病机制：对X连锁和常染色体显性卡尔曼综合征的见解
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