MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency

Swapna Desai; Michelle Wood-Trageser; Jelena Matic; Jaqueline Chipkin; Huaiyang Jiang; Anne Bachelot; Jerome Dulon; Cinzia Sala; Caterina Barbieri; Massimiliano Cocca; Daniela Toniolo; Philippe Touraine; Selma Witchel; Aleksandar Rajkovic

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MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency

机译：原发性卵巢功能不全妇女的MCM8和MCM9核苷酸变异

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AbstractObjective:To assess the frequency of variants, including biallelic pathogenic variants, in minichromosome maintenance 8 (MCM8) and minichromosome maintenance 9 (MCM9), other genes related to MCM8–MCM9, and DNA damage repair (DDR) pathway in participants with primary ovarian insufficiency (POI).

机译：摘要目的：评估微染色体维持8（MCM8）和微染色体维持9（MCM9），与MCM8–MCM9相关的其他基因以及DNA损伤修复（DDR）途径中包括双等位基因致病变异的变异的频率功能不足（POI）。

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《The journal of clinical endocrinology and metabolism》 |2017年第2期|共7页
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Swapna Desai; Michelle Wood-Trageser; Jelena Matic; Jaqueline Chipkin; Huaiyang Jiang; Anne Bachelot; Jerome Dulon; Cinzia Sala; Caterina Barbieri; Massimiliano Cocca; Daniela Toniolo; Philippe Touraine; Selma Witchel; Aleksandar Rajkovic;
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1. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency [J] . Fauchereau F., Shalev S., Chervinsky E., Clinical Genetics: An International Journal of Genetics in Medicine . 2016,第5期

机译：家族性原发性卵巢功能不全的无意义MCM9突变
2. Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature [J] . Fei Wang, Sheng Guo, Pin Li Molecular Genetics & Genomic Medicine . 2020,第9期

机译：两种中国兄弟姐妹的MCM8基因中的两种新突变，主要卵巢功能不全和矮小
3. R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency [J] . Justine Bouilly, Isabelle Beau, Sara Barraud, Journal of Ovarian Research . 2017,第1期

机译：R-spondin2，NOBOX的新靶点：鉴定一组原发性卵巢功能不全妇女的变异体
4. Noninvasive Cell-Free DNA-Based Detection of Copy Number Variations in Breast and Ovarian Cancer Samples Using Single Nucleotide Polymorphism-Targeted Massively Multiplexed PCR [C] . Zachary Demko, Bernhard G. Zimmermann, Eser Kirkizlar, International Molecular Medicine Tri-Conference. . 2015

机译：使用单核苷酸多态性靶向大规模多重PCR的非侵入性细胞基于乳腺癌和卵巢癌样品的拷贝数变异的检测
5. The psychological impact of premature ovarian insufficiency in women with galactosemia: A qualitative study [D] . D'Anna, Kali Nicole 2011

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6. MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency [O] . Swapna Desai, Michelle Wood-Trageser, Jelena Matic, -1

机译：原发性卵巢功能不全女性的MCM8和MCM9核苷酸变异
7. MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency [O] . Desai, Swapna, Wood-Trageser, Michelle, Matic, Jelena, 2017

机译：原发性卵巢功能不全女性的MCM8和MCM9核苷酸变异

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency

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