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Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.
Macaisne N, Touzon MS, Rajkovic A, Yanowitz JL. Macaisne N, et al. Among authors: rajkovic a. J Assist Reprod Genet. 2022 Jun;39(6):1255-1260. doi: 10.1007/s10815-022-02494-0. Epub 2022 Apr 18. J Assist Reprod Genet. 2022. PMID: 35437714 Free PMC article.
PURPOSE: In women under the age of 40, primary ovarian insufficiency (POI) is a devastating diagnosis with significant prevalence of 1-4% (Rajkovic and Pangas, Semin Reprod Med. 35(3):231-40, 2017). ...METHODS: We performed exome sequencing on a cohort of wom …
PURPOSE: In women under the age of 40, primary ovarian insufficiency (POI) is a devastating diagnosis with significant prevalence of …
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Gorsi B, et al. Among authors: rajkovic a. J Clin Endocrinol Metab. 2022 Feb 17;107(3):685-714. doi: 10.1210/clinem/dgab775. J Clin Endocrinol Metab. 2022. PMID: 34718612 Free PMC article.
MGA loss-of-function variants cause premature ovarian insufficiency.
Tang S, Guo T, Song C, Wang L, Zhang J, Rajkovic A, Lin X, Chen S, Liu Y, Tian W, Wu B, Wang S, Wang W, Lai Y, Wang A, Xu S, Jin L, Ke H, Zhao S, Li Y, Qin Y, Zhang F, Chen ZJ. Tang S, et al. Among authors: rajkovic a. J Clin Invest. 2024 Nov 15;134(22):e183758. doi: 10.1172/JCI183758. J Clin Invest. 2024. PMID: 39545409 Free PMC article.
343 results