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Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome.
Zhang Z, Wu L, Diao F, Chen B, Fu J, Mao X, Yan Z, Li B, Mu J, Zhou Z, Wang W, Zhao L, Dong J, Zeng Y, Du J, Kuang Y, Sun X, He L, Sang Q, Wang L. Zhang Z, et al. Among authors: zeng y. J Assist Reprod Genet. 2020 Nov;37(11):2861-2868. doi: 10.1007/s10815-020-01931-2. Epub 2020 Aug 28. J Assist Reprod Genet. 2020. PMID: 32860205 Free PMC article.
Homozygous variants in PANX1 cause human oocyte death and female infertility.
Wang W, Qu R, Dou Q, Wu F, Wang W, Chen B, Mu J, Zhang Z, Zhao L, Zhou Z, Dong J, Zeng Y, Liu R, Du J, Zhu S, Li Q, He L, Jin L, Wang L, Sang Q. Wang W, et al. Among authors: zeng y. Eur J Hum Genet. 2021 Sep;29(9):1396-1404. doi: 10.1038/s41431-020-00807-4. Epub 2021 Jan 25. Eur J Hum Genet. 2021. PMID: 33495594 Free PMC article.
Identification of Novel Mutations in CDC20: Expanding the Mutational Spectrum for Female Infertility.
Zhao L, Guan Y, Meng Q, Wang W, Wu L, Chen B, Hu J, Zhu J, Zhang Z, Mu J, Chen Y, Sun Y, Wu T, Wang W, Zhou Z, Dong J, Zeng Y, Liu R, Li Q, Du J, Kuang Y, Sang Q, Wang L. Zhao L, et al. Among authors: zeng y. Front Cell Dev Biol. 2021 Apr 9;9:647130. doi: 10.3389/fcell.2021.647130. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33898437 Free PMC article.
Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest.
Zhao L, Li Q, Kuang Y, Xu P, Sun X, Meng Q, Wang W, Zeng Y, Chen B, Fu J, Dong J, Zhu J, Luo Y, Gu H, Li C, Li C, Wu L, Mao X, Fan H, Liu R, Zhang Z, Li Q, Du J, He L, Jin L, Wang L, Sang Q. Zhao L, et al. Among authors: zeng y. Genet Med. 2022 Nov;24(11):2274-2284. doi: 10.1016/j.gim.2022.07.027. Epub 2022 Aug 27. Genet Med. 2022. PMID: 36029299 Free article.
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