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Updated: May 26, 2025

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在早期发病的原发性卵巢缺陷中对外体序列分析的一种分层方法

Sinéad M McGlacken-Byrne1,2,3, Jenifer P Suntharalingham1, Miho Ishida1

  • 1Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, United Kingdom.

The Journal of clinical endocrinology and metabolism
|February 25, 2025
PubMed
概括

早期发病的原发性卵巢缺陷 (EO-POI) 的遗传基础是复杂的,涉及多个基因和遗传模式. 这项研究确定了许多遗传变异,包括新型候选者,在大型队列中为EO-POI做出贡献.

关键词:
迟到的青春期延迟了基因分析 遗传分析原发性异常流血 (Primary Amenorrhea) 是一种主要的异常流血.原发性卵巢功能不充分症.生殖内分泌学 生殖内分泌学

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In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
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