Biblio

Author Title [ Type(Asc)] Year
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Journal Article
Zhang Y-X, Li H-Y, Bin He W-, Tu C, Du J, Li W, Lu G-X, Lin G, Yang Y, Tan Y-Q. XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. Clin Genet. 2018.
Wang X, Lin D-H, Yan Y, Wang A-H, Liao J, Meng Q, Yang W-Q, Zuo H, Hua M-M, Zhang F, et al. The PIWI-specific insertion module helps load longer piRNAs for translational activation essential for male fertility. Sci China Life Sci. 2023.
Lu W, Li Y, Meng L, Tan C, Nie HC, Zhang Q, Song Y, Zhang H, Tan Y-Q, Tu C, et al. Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. J Assist Reprod Genet. 2024.
Zhao S-Y, Meng L-L, Du Z-L, Tan Y-Q, Bin He W-, Wang X. A novel loss-of-function variant in inducing oligo-astheno-teratozoospermia and male infertility. Asian J Androl. 2023.
Meng L, Liu Q, Tan C, Xu X, He W, Hu T, Tu C, Li Y, Du J, Zhang Q, et al. Novel homozygous variants in cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella. Front Cell Dev Biol. 2023;11:1184331.
He J, Liu Q, Wang W, Su L, Meng L, Tan C, Zhang H, Zhang Q, Lu G, Du J, et al. Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype. Clin Genet. 2022.
Guo J, Bin He W-, Dai L, Tian F, Luo Z, Shen F, Tu M, Zheng Y, Zhao L, Tan C, et al. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192. HGG Adv. 2023:100256.
Tu C, Wen J, Wang W, Zhu Q, Chen Y, Cheng J, Li Z, Meng L, Li Y, He W, et al. Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.
Zhao S, Liu Q, Su L, Meng L, Tan C, Wei C, Zhang H, Luo T, Zhang Q, Tan Y-Q, et al. Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella. J Assist Reprod Genet. 2024.
Luo C, Chen Z, Meng L, Tan C, He W, Tu C, Du J, Lu G-X, Lin G, Tan Y-Q, et al. A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia. Clin Genet. 2024.
Xu F, Zhang Y-N, Cheng D-H, Tan K, Zhong C-G, Lu G-X, Lin G, Tan Y-Q. The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes. Mol Cytogenet. 2014;7(1):64.
Hu X, Wang W, Luo K, Dai J, Zhang Y, Wan Z, He W, Zhang S, Yang L, Tan Q, et al. Extended application of PGT-M strategies for small pathogenic CNVs. J Assist Reprod Genet. 2024.
Zhou S, Yuan S, Zhang J, Meng L, Zhang X, Liu S, Lu G, Lin G, Liu M, Tan Y-Q. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice. Signal Transduct Target Ther. 2023;8(1):26.
Yi S, Wang W, Su L, Meng L, Li Y, Tan C, Liu Q, Zhang H, Fan L, Lu G, et al. Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia. Mol Hum Reprod. 2024.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, et al. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Am J Hum Genet. 2021.
Cheng D, Lu C-F, Gong F, Du J, Yuan S, Luo K-L, Tan Y-Q, Lu G-X, Lin G. A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination. Hum Reprod. 2024.
He J, Su L, Wang W, Li Y, Meng L, Tan C, Lin G, Tan Y-Q, Zhang Q, Chaofeng T. C9orf131 and C10orf120 are not essential for male fertility in humans or mice. Dev Biol. 2023.
Wang W, Su L, Meng L, He J, Tan C, Yi D, Cheng D, Zhang H, Lu G, Du J, et al. Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia. Hum Reprod. 2023.
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, et al. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, et al. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
Tian S, Tu C, He X, Meng L, Wang J, Tang S, Gao Y, Liu C, Wu H, Zhou Y, et al. Biallelic mutations in cause male infertility with severe MMAF and NOA. J Med Genet. 2023.