A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia (English)
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In:
Clinical Genetics
;
105
, 4
;
440-445
;
2024
- Article (Journal) / Electronic Resource
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Title:A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia
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Contributors:Xu, Shuai ( author ) / Zhao, Jingpeng ( author ) / Gao, Feng ( author ) / Zhang, Yuxiang ( author ) / Luo, Jiaqiang ( author ) / Zhang, Chenwang ( author ) / Tian, Ruhui ( author ) / Zhi, Erlei ( author ) / Zhang, Jianxiong ( author ) / Bai, Furong ( author )
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Published in:Clinical Genetics ; 105, 4 ; 440-445
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Publisher:
- New search for: Blackwell Publishing Ltd
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Publication date:2024-04-01
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Size:6 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 105, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 343
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Issue Information| 2024
- 345
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Therapeutic strategies for aberrant splicing in cancer and genetic disordersShi, Wenhua / Tang, Jingqun / Xiang, Juanjuan et al. | 2024
- 355
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Patient perspective in perceived comparative genetic mutation risk: An exploratory reviewCilli, Eleonora / Guerra, Federica / Ranieri, Jessica / Brancati, Francesco / Di Giacomo, Dina et al. | 2024
- 364
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Spermatozoa in mice lacking the nucleoporin NUP210L show defects in head shape and motility but not in nuclear compaction or histone replacementAl Dala Ali, Maha / Longepied, Guy / Nicolet, Aurore / Metzler‐Guillemain, Catherine / Mitchell, Michael J. et al. | 2024
- 376
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Identifying candidate genes underlying isolated congenital anosmiaKamarck, Marissa L. / Trimmer, Casey / Murphy, Nicolle R. / Gregory, Kristen M. / Manoel, Diogo / Logan, Darren W. / Saraiva, Luis R. / Mainland, Joel D. et al. | 2024
- 386
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SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphologyVanden Broek, Kara / Ryu, Jae‐Ryeon / Perrier, Renee / Tyndall, Amanda V. / Childs, Sarah J. / Au, Ping Yee Billie et al. | 2024
- 397
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CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlationChen, Yu‐Jie / Wang, Wen‐Jie / Zou, Dong‐Fang / Luo, Jun‐Xia / Jin, Pei‐Yan / Jin, Liang / Liu, Xiao‐Rong / Liao, Wei‐Ping / Li, Bin / Chen, Yong‐Jun et al. | 2024
- 406
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Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?Riedhammer, Korbinian M. / Simmendinger, Hannes / Tasic, Velibor / Putnik, Jovana / Abazi‐Emini, Nora / Stajic, Natasa / Berutti, Riccardo / Weidenbusch, Marc / Patzer, Ludwig / Lungu, Adrian et al. | 2024
- 415
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Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in ChinaMao, Shujiong / Yang, Lili / Gao, Ying / Zou, Chaochun et al. | 2024
- 423
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Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorderNazmina, Gul / Khan, Amjad / Jiang, Jiuhong / Miao, Zhichao / Khan, Shahid Niaz / Khan, Muhammad Ismail / Shah, Abdul Haleem / Shah, Ayesha Haleem / Khisroon, Muhammad / Haack, Tobias B et al. | 2024
- 430
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A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's diseaseCanosa, Antonio / Cabras, Sara / Di Pede, Francesca / Manera, Umberto / Vasta, Rosario / Moglia, Cristina / Calvo, Andrea / Gallone, Salvatore / Chiò, Adriano et al. | 2024
- 434
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RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle diseaseHordyjewska‐Kowalczyk, Ewa / Wuyts, Wim / Boeckx, Nele / Verdonck, An / Hendrickx, Gretl / Mortier, Geert et al. | 2024
- 440
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A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermiaXu, Shuai / Zhao, Jingpeng / Gao, Feng / Zhang, Yuxiang / Luo, Jiaqiang / Zhang, Chenwang / Tian, Ruhui / Zhi, Erlei / Zhang, Jianxiong / Bai, Furong et al. | 2024
- 446
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The FGF14 GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsKartanou, Chrisoula / Mitrousias, Alexandros / Pellerin, David / Kontogeorgiou, Zoi / Iruzubieta, Pablo / Dicaire, Marie‐Josée / Danzi, Matt C. / Koniari, Chrysoula / Athanassopoulos, Konstantinos / Panas, Marios et al. | 2024
- 453
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Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasiaKamdar, Payal / Geetha, Thenral S. / Palocaren, Thomas / Kandagaddala, Madhavi / Chinniah, Praveen Kumar / Murugan, Sakthivel / Vedam, Ramprasad / Danda, Sumita et al. | 2024
- 455
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Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorderLiaqat, Khurram / Treat, Kayla / Wilson, Theodore E. / Conboy, Erin / Vetrini, Francesco et al. | 2024