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Select item 46519551.

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

Houda Ghédir, Moez Gribaa, Ons Mamaî, Ilhem Ben Charfeddine, Asma Braham, Abdelbasset Amara, Meriem Mehdi, Ali Saad, Samira Ibala-Romdhane

J Assist Reprod Genet. 2015 Nov; 32(11): 1651–1658. Published online 2015 Sep 4. doi: 10.1007/s10815-015-0565-4

PMCID:: PMC4651955

Abstract Article PDF–1.1M

Select item 42918812.

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

Leyla Ounis, Abdelali Zoghmar, Charles Coutton, Leila Rouabah, Maroua Hachemi, Delphine Martinez, Guillaume Martinez, Ines Bellil, Douadi Khelifi, Christophe Arnoult, Julien Fauré, Sebti Benbouhedja, Abdelkader Rouabah, Pierre F Ray

Asian J Androl. 2015 Jan-Feb; 17(1): 68–73. Published online 2014 Aug 22. doi: 10.4103/1008-682X.136441

PMCID:: PMC4291881

Abstract Article PDF–778K

Select item 64390913.

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia

Juan Hua, Yang-yang Wan

J Assist Reprod Genet. 2019 Mar; 36(3): 529–534. Published online 2018 Dec 29. doi: 10.1007/s10815-018-1374-3

PMCID:: PMC6439091

Abstract Article PDF–752K

Select item 36395144.

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis

Mariem Ben Khelifa, Raoudha Zouari, Radu Harbuz, Lazhar Halouani, Christophe Arnoult, Joël Lunardi, Pierre F. Ray

Mol Hum Reprod. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Mol Hum Reprod. 2011 Dec; 17(12): 762–768. Published online 2011 Jul 6. doi: 10.1093/molehr/gar050

PMCID:: PMC3639514

Abstract Article

Select item 92266875.

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

Zine-Eddine Kherraf, Caroline Cazin, Florence Lestrade, Jana Muronova, Charles Coutton, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray

Asian J Androl. 2022 May-Jun; 24(3): 243–247. Published online 2022 Jan 11. doi: 10.4103/aja202194

PMCID:: PMC9226687

Abstract Article PDF–496K

Select item 111206876.

Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence

Andrea Graziani, Maria Santa Rocca, Cinzia Vinanzi, Giulia Masi, Giuseppe Grande, Luca De Toni, Alberto Ferlin

Genes (Basel) 2024 May; 15(5): 600. Published online 2024 May 8. doi: 10.3390/genes15050600

PMCID:: PMC11120687

Abstract Article PDF–1.2M

Select item 43808897.

Genetic aspects of monomorphic teratozoospermia: a review

Marc De Braekeleer, Minh Huong Nguyen, Frédéric Morel, Aurore Perrin

J Assist Reprod Genet. 2015 Apr; 32(4): 615–623. Published online 2015 Feb 25. doi: 10.1007/s10815-015-0433-2

PMCID:: PMC4380889

Abstract Article PDF–459K

Select item 108468258.

The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa

Liu Liu, Jing Yang, Wen-Jing Zhang, Yi-Ling Zhou, Gui-Jun Zhao, Ya Huang, Shu-Yan Tang

Asian J Androl. 2024 Jan-Feb; 26(1): 107–111. Published online 2023 Jul 14. doi: 10.4103/aja202321

PMCID:: PMC10846825

Abstract Article PDF–2.6M

Select item 49390469.

Is intracouple assisted reproductive technology an option for men with large-headed spermatozoa? A literature review and a decision guide proposal

Bruno Guthauser, Xavier Pollet-Villard, Florence Boitrelle, Francois Vialard

Basic Clin Androl. 2016; 26: 8. Published online 2016 Jul 8. doi: 10.1186/s12610-016-0035-6

PMCID:: PMC4939046

Abstract Article PDF–550K

Select item 837516410.

Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Farah Ghieh, Anne-Laure Barbotin, Clara Leroy, François Marcelli, Nelly Swierkowsky-Blanchard, Valérie Serazin, Béatrice Mandon-Pepin, François Vialard

Basic Clin Androl. 2021; 31: 21. Published online 2021 Aug 19. doi: 10.1186/s12610-021-00138-4

PMCID:: PMC8375164

Abstract Article PDF–304K

Select item 1049495911.

A Case of Severe Teratozoospermia and Infertility Due to Homozygous Mutation c.144delC in the AURKC Gene

Meriame Abbassi, Hanane Sayel, Hinde El Mouhi, Meryem Jelte, Mohamed Ahakoud

Cureus. 2023 Aug; 15(8): e43376. Published online 2023 Aug 12. doi: 10.7759/cureus.43376

PMCID:: PMC10494959

Abstract Article PDF–233K

Select item 367434712.

The targeting and functions of miRNA-383 are mediated by FMRP during spermatogenesis

H Tian, Y-X Cao, X-S Zhang, W-P Liao, Y-H Yi, J Lian, L Liu, H-L Huang, W-J Liu, M-M Yin, M Liang, G Shan, F Sun

Cell Death Dis. 2013 May; 4(5): e617. Published online 2013 May 2. doi: 10.1038/cddis.2013.138

PMCID:: PMC3674347

Abstract Article PDF–3.9M

Select item 41999713.

Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure

Sjoerd Repping, Helen Skaletsky, Julian Lange, Sherman Silber, Fulco van der Veen, Robert D. Oates, David C. Page, Steve Rozen

Am J Hum Genet. 2002 Oct; 71(4): 906–922. Published online 2002 Sep 20. doi: 10.1086/342928

PMCID:: PMC419997

Abstract Article PDF–766K

Select item 461843814.

Genome Editing in Mouse Spermatogonial Stem Cell Lines Using TALEN and Double-Nicking CRISPR/Cas9

Takuya Sato, Tetsushi Sakuma, Tetsuhiro Yokonishi, Kumiko Katagiri, Satoshi Kamimura, Narumi Ogonuki, Atsuo Ogura, Takashi Yamamoto, Takehiko Ogawa

Stem Cell Reports. 2015 Jul 14; 5(1): 75–82. Published online 2015 Jun 18. doi: 10.1016/j.stemcr.2015.05.011

PMCID:: PMC4618438

Abstract Article PDF–1.8M

Select item 460101015.

DDX3Y gene rescue of a Y chromosome AZFa deletion restores germ cell formation and transcriptional programs

Cyril Ramathal, Benjamin Angulo, Meena Sukhwani, Jun Cui, Jens Durruthy-Durruthy, Fang Fang, Paula Schanes, Paul J. Turek, Kyle E. Orwig, Renee Reijo Pera

Sci Rep. 2015; 5: 15041. Published online 2015 Oct 12. doi: 10.1038/srep15041

PMCID:: PMC4601010

Abstract Article PDF–2.4M

Select item 444113216.

Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination

Bo Yang, Yong-yi Ma, Yun-qiang Liu, Lei Li, Dong Yang, Wen-ling Tu, Ying Shen, Qiang Dong, Yuan Yang

Sci Rep. 2015; 5: 10551. Published online 2015 May 22. doi: 10.1038/srep10551

PMCID:: PMC4441132

Abstract Article PDF–1.0M

Select item 121305617.

Translocations, the Predominant Cause of Total Sterility in Sons of Mice Treated with Mutagens

Nestor L. A. Cacheiro, Liane Brauch Russell, Margaret S. Swartout

Genetics. 1974 Jan; 76(1): 73–91. doi: 10.1093/genetics/76.1.73

PMCID:: PMC1213056

Summary PDF–2.3M

Select item 435009118.

Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia

Zesong Li, Yi Huang, Honggang Li, Jingchu Hu, Xiao Liu, Tao Jiang, Guangqing Sun, Aifa Tang, Xiaojuan Sun, Weiping Qian, Yong Zeng, Jun Xie, Wei Zhao, Yu Xu, Tingting He, Chengliang Dong, Qunlong Liu, Lisha Mou, Jingxiao Lu, Zheguang Lin, Song Wu, Shengjie Gao, Guangwu Guo, Qiang Feng, Yingrui Li, Xiuqing Zhang, Jun Wang, Huanming Yang, Jian Wang, Chengliang Xiong, Zhiming Cai, Yaoting Gui

Sci Rep. 2015; 5: 8785. Published online 2015 Mar 5. doi: 10.1038/srep08785

PMCID:: PMC4350091

Abstract Article PDF–1.3M

Select item 405160619.

X Chromosome-Linked CNVs in Male Infertility: Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance

Chiara Chianese, Adam C. Gunning, Claudia Giachini, Fabrice Daguin, Giancarlo Balercia, Elisabet Ars, Deborah Lo Giacco, Eduard Ruiz-Castañé, Gianni Forti, Csilla Krausz

PLoS One. 2014; 9(6): e97746. Published online 2014 Jun 10. doi: 10.1371/journal.pone.0097746

PMCID:: PMC4051606

Abstract Article PDF–268K

Select item 402081220.

High-Throughput Screening for Spermatogenesis Candidate Genes in the AZFc Region of the Y Chromosome by Multiplex Real Time PCR Followed by High Resolution Melting Analysis

Evguenia Alechine, Daniel Corach

PLoS One. 2014; 9(5): e97227. Published online 2014 May 14. doi: 10.1371/journal.pone.0097227

PMCID:: PMC4020812

Abstract Article PDF–917K

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