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Material Type: Artigo
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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertilityLiu, Chunyu ; Tu, Chaofeng ; Wang, Lingbo ; Wu, Huan ; Houston, Brendan J. ; Mastrorosa, Francesco K. ; Zhang, Wen ; Shen, Ying ; Wang, Jiaxiong ; Tian, Shixiong ; Meng, Lanlan ; Cong, Jiangshan ; Yang, Shenmin ; Jiang, Yiwen ; Tang, Shuyan ; Zeng, Yuyan ; Lv, Mingrong ; Lin, Ge ; Li, Jinsong ; Saiyin, Hexige ; He, Xiaojin ; Jin, Li ; Touré, Aminata ; Ray, Pierre F. ; Veltman, Joris A. ; Shi, Qinghua ; O’Bryan, Moira K. ; Cao, Yunxia ; Tan, Yue-Qiu ; Zhang, FengAmerican journal of human genetics, 2021-02, Vol.108 (2), p.309-323 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to AsthenozoospermiaWhitfield, Marjorie ; Thomas, Lucie ; Bequignon, Emilie ; Schmitt, Alain ; Stouvenel, Laurence ; Montantin, Guy ; Tissier, Sylvie ; Duquesnoy, Philippe ; Copin, Bruno ; Chantot, Sandra ; Dastot, Florence ; Faucon, Catherine ; Barbotin, Anne Laure ; Loyens, Anne ; Siffroi, Jean-Pierre ; Papon, Jean-François ; Escudier, Estelle ; Amselem, Serge ; Mitchell, Valérie ; Touré, Aminata ; Legendre, MarieAmerican journal of human genetics, 2019-07, Vol.105 (1), p.198-212 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and miceTu, Chaofeng ; Cong, Jiangshan ; Zhang, Qianjun ; He, Xiaojin ; Zheng, Rui ; Yang, Xiaoxuan ; Gao, Yang ; Wu, Huan ; Lv, Mingrong ; Gu, Yayun ; Lu, Shuai ; Liu, Chunyu ; Tian, Shixiong ; Meng, Lanlan ; Wang, Weili ; Tan, Chen ; Nie, Hongchuan ; Li, Dongyan ; Zhang, Huan ; Gong, Fei ; Hu, Liang ; Lu, Guangxiu ; Xu, Wenming ; Lin, Ge ; Zhang, Feng ; Cao, Yunxia ; Tan, Yue-QiuAmerican journal of human genetics, 2021-08, Vol.108 (8), p.1466-1477 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndromeMahyari, Eisa ; Guo, Jingtao ; Lima, Ana C. ; Lewinsohn, Daniel P. ; Stendahl, Alexandra M. ; Vigh-Conrad, Katinka A. ; Nie, Xichen ; Nagirnaja, Liina ; Rockweiler, Nicole B. ; Carrell, Douglas T. ; Hotaling, James M. ; Aston, Kenneth I. ; Conrad, Donald F.American journal of human genetics, 2021-10, Vol.108 (10), p.1924-1945 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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The epidemiology and etiology of azoospermiaCocuzza, Marcello ; Alvarenga, Conrado ; Pagani, RodrigoClinics (São Paulo, Brazil), 2013-01, Vol.68 (Suppl 1), p.15-26 [Periódico revisado por pares]Brazil: Elsevier España, S.L.UTexto completo disponível |
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Material Type: Artigo
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SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male InfertilitySchilit, Samantha L.P. ; Menon, Shreya ; Friedrich, Corinna ; Kammin, Tammy ; Wilch, Ellen ; Hanscom, Carrie ; Jiang, Sizun ; Kliesch, Sabine ; Talkowski, Michael E. ; Tüttelmann, Frank ; MacQueen, Amy J. ; Morton, Cynthia C.American journal of human genetics, 2020-01, Vol.106 (1), p.41-57 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and MouseDong, Frederick N. ; Amiri-Yekta, Amir ; Martinez, Guillaume ; Saut, Antoine ; Tek, Julie ; Stouvenel, Laurence ; Lorès, Patrick ; Karaouzène, Thomas ; Thierry-Mieg, Nicolas ; Satre, Véronique ; Brouillet, Sophie ; Daneshipour, Abbas ; Hosseini, Seyedeh Hanieh ; Bonhivers, Mélanie ; Gourabi, Hamid ; Dulioust, Emmanuel ; Arnoult, Christophe ; Touré, Aminata ; Ray, Pierre F. ; Zhao, Haiqing ; Coutton, CharlesAmerican journal of human genetics, 2018-04, Vol.102 (4), p.636-648 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and miceDai, Jing ; Zhang, Tianlei ; Guo, Jing ; Zhou, Qinwei ; Gu, Yifan ; Zhang, Jue ; Hu, Liang ; Zong, Yurong ; Song, Juan ; Zhang, Shuoping ; Dai, Can ; Gong, Fei ; Lu, Guangxiu ; Zheng, Wei ; Lin, GeAmerican journal of human genetics, 2021-03, Vol.108 (3), p.469-481 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm FlagellaBen Khelifa, Mariem ; Coutton, Charles ; Zouari, Raoudha ; Karaouzène, Thomas ; Rendu, John ; Bidart, Marie ; Yassine, Sandra ; Pierre, Virginie ; Delaroche, Julie ; Hennebicq, Sylviane ; Grunwald, Didier ; Escalier, Denise ; Pernet-Gallay, Karine ; Jouk, Pierre-Simon ; Thierry-Mieg, Nicolas ; Touré, Aminata ; Arnoult, Christophe ; Ray, Pierre F.American journal of human genetics, 2014-01, Vol.94 (1), p.95-104 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa SyndromeZhu, Fuxi ; Wang, Fengsong ; Yang, Xiaoyu ; Zhang, Jingjing ; Wu, Huan ; Zhang, Zhou ; Zhang, Zhiguo ; He, Xiaojin ; Zhou, Ping ; Wei, Zhaolian ; Gecz, Jozef ; Cao, YunxiaAmerican journal of human genetics, 2016-10, Vol.99 (4), p.942-949 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |