Male Infertility

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
Weili Wang, Chaofeng Tu, Hongchuan Nie, Lanlan Meng, Yong Li, Shimin Yuan, Qianjun Zhang, Juan Du, Junpu Wang, Fei Gong, Liqing Fan, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan

Journal of Medical Genetics Nov 2019, 56 (11) 750-757; DOI: 10.1136/jmedgenet-2019-106031
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
Weiyu Li, Huan Wu, Fuping Li, Shixiong Tian, Zine-Eddine Kherraf, Jintao Zhang, Xiaoqing Ni, Mingrong Lv, Chunyu Liu, Qing Tan, Ying Shen, Amir Amiri-Yekta, Caroline Cazin, Jingjing Zhang, Wangjie Liu, Yan Zheng, Huiru Cheng, Yingbi Wu, Jiajia Wang, Yang Gao, Yujie Chen, Xiaomin Zha, Li Jin, Mingxi Liu, Xiaojin He, Pierre F Ray, Yunxia Cao, Feng Zhang

Journal of Medical Genetics Sep 2019, jmedgenet-2019-106344; DOI: 10.1136/jmedgenet-2019-106344
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella
Xiaojin He, Weiyu Li, Huan Wu, Mingrong Lv, Wangjie Liu, Chunyu Liu, Fuxi Zhu, Caihua Li, Youyan Fang, Chenyu Yang, Huiru Cheng, Junqiang Zhang, Jing Tan, Tingting Chen, Dongdong Tang, Bing Song, Xue Wang, Xiaomin Zha, Hongyan Wang, Zhaolian Wei, Shenmin Yang, Hexige Saiyin, Ping Zhou, Li Jin, Jian Wang, Zhiguo Zhang, Feng Zhang, Yunxia Cao

Journal of Medical Genetics Feb 2019, 56 (2) 96-103; DOI: 10.1136/jmedgenet-2018-105486
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
Özgecan Ayhan, Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun

Journal of Medical Genetics Apr 2014, 51 (4) 239-244; DOI: 10.1136/jmedgenet-2013-102102

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Male Infertility