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Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L. Zhang Z, et al. Among authors: zhao l. Am J Hum Genet. 2020 Jul 2;107(1):15-23. doi: 10.1016/j.ajhg.2020.05.001. Epub 2020 May 29. Am J Hum Genet. 2020. PMID: 32473092 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: zhao l. 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 novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.
Zhao L, Guan Y, Wang W, Chen B, Xu S, Wu L, Yan Z, Li B, Fu J, Shi R, Shi J, Du J, Li Q, Zhang Z, Mu J, Zhou Z, Dong J, Jin L, He L, Sun X, Kuang Y, Wang L, Sang Q. Zhao L, et al. J Assist Reprod Genet. 2020 Aug;37(8):1837-1847. doi: 10.1007/s10815-020-01830-6. Epub 2020 Jun 10. J Assist Reprod Genet. 2020. PMID: 32524331 Free PMC article.
Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development.
Zhao L, Xue S, Yao Z, Shi J, Chen B, Wu L, Sun L, Xu Y, Yan Z, Li B, Mao X, Fu J, Zhang Z, Mu J, Wang W, Du J, Liu S, Dong J, Wang W, Li Q, He L, Jin L, Liang X, Kuang Y, Sun X, Wang L, Sang Q. Zhao L, et al. Protein Cell. 2020 Dec;11(12):921-927. doi: 10.1007/s13238-020-00756-0. Protein Cell. 2020. PMID: 32666501 Free PMC article. No abstract available.
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: zhao l. 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.
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