PMC Articles for MedGen (Select 1618089) - PMC

Select item 110358811.

Undiagnosed RASopathies in infertile men

Anna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, Erik Tamp, Anu Valkna, Kristiina Lillepea, Eisa Mahyari, Stanislav Tjagur, Galina Belova, Viljo Kübarsepp, Helen Castillo-Madeen, Antoni Riera-Escamilla, Lisanna Põlluaas, Liina Nagirnaja, Olev Poolamets, Vladimir Vihljajev, Mailis Sütt, Nassim Versbraegen, Sofia Papadimitriou, Robert I. McLachlan, Keith A. Jarvi, Peter N. Schlegel, Sven Tennisberg, Paul Korrovits, Katinka Vigh-Conrad, Moira K. O’Bryan, Kenneth I. Aston, Tom Lenaerts, Donald F. Conrad, Laura Kasak, Margus Punab, Maris Laan

Front Endocrinol (Lausanne) 2024; 15: 1312357. Published online 2024 Apr 9. doi: 10.3389/fendo.2024.1312357

PMCID:: PMC11035881

Article PDF–2.0M

Select item 98342332.

Microdeletions and microduplications linked to severe congenital disorders in infertile men

Triin Kikas, Anna Maria Punab, Laura Kasak, Olev Poolamets, Vladimir Vihljajev, Kristjan Pomm, Mario Reiman, Stanislav Tjagur, Paul Korrovits, Margus Punab, Maris Laan

Sci Rep. 2023; 13: 574. Published online 2023 Jan 11. doi: 10.1038/s41598-023-27750-w

PMCID:: PMC9834233

Article PDF–1.5M

Select item 89060233.

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub‐region in infertile Iraqi patients with azoospermia and severe oligozoospermia

Mushtak T. S. Al‐Ouqaili, Sahar K. Al‐Ani, Rehab Alaany, Mohammed N. Al‐Qaisi

J Clin Lab Anal. 2022 Mar; 36(3): e24272. Published online 2022 Feb 5. doi: 10.1002/jcla.24272

PMCID:: PMC8906023

Article PDF–472K

Select item 80046774.

Genetics of Azoospermia

Francesca Cioppi, Viktoria Rosta, Csilla Krausz

Int J Mol Sci. 2021 Mar; 22(6): 3264. Published online 2021 Mar 23. doi: 10.3390/ijms22063264

PMCID:: PMC8004677

Article PDF–1.4M

Select item 77105805.

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Csilla Krausz, Antoni Riera-Escamilla, Daniel Moreno-Mendoza, Kaylee Holleman, Francesca Cioppi, Ferran Algaba, Marc Pybus, Corinna Friedrich, Margot J. Wyrwoll, Elena Casamonti, Sara Pietroforte, Liina Nagirnaja, Alexandra M. Lopes, Sabine Kliesch, Adrian Pilatz, Douglas T. Carrell, Donald F. Conrad, Elisabet Ars, Eduard Ruiz-Castañé, Kenneth I. Aston, Willy M. Baarends, Frank Tüttelmann

Genet Med. Author manuscript; available in PMC 2021 Feb 3.

Published in final edited form as: Genet Med. 2020 Dec; 22(12): 1956–1966. Published online 2020 Aug 3. doi: 10.1038/s41436-020-0907-1

PMCID:: PMC7710580

Article PDF–910K

Select item 77059786.

The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study

Hong-Ge Li, Li-Hong Fan, Bei Liu, Ye-Qing Qian, Min Chen, Yi-Xi Sun, Min-Yue Dong

Asian J Androl. 2020 Nov-Dec; 22(6): 642–648. Published online 2020 May 1. doi: 10.4103/aja.aja_13_20

PMCID:: PMC7705978

Article PDF–481K

Select item 65054497.

A systematic review and standardized clinical validity assessment of male infertility genes

Manon S Oud, Ludmila Volozonoka, Roos M Smits, Lisenka E L M Vissers, Liliana Ramos, Joris A Veltman

Hum Reprod. 2019 May; 34(5): 932–941. Published online 2019 Mar 13. doi: 10.1093/humrep/dez022

PMCID:: PMC6505449

Article PDF–705K

Select item 64622988.

Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males

Zohreh Hojati, Elaheh Soleimanpour, Seyed-Morteza Javadirad, Mohammad Hossein Nasr-Esfahani

Iran Biomed J. 2019 May; 23(3): 220–227. doi: 10.29252/.23.3.220

PMCID:: PMC6462298

Article PDF–1006K

Select item 43500919.

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

Article PDF–1.3M

Select item 402322610.

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Deborah Lo Giacco, Chiara Chianese, Josvany Sánchez-Curbelo, Lluis Bassas, Patricia Ruiz, Osvaldo Rajmil, Joaquim Sarquella, Alvaro Vives, Eduard Ruiz-Castañé, Rafael Oliva, Elisabet Ars, Csilla Krausz

Eur J Hum Genet. 2014 Jun; 22(6): 754–761. Published online 2013 Nov 6. doi: 10.1038/ejhg.2013.253

PMCID:: PMC4023226

Article PDF–450K

Select item 346424311.

Deregulated Sex Chromosome Gene Expression with Male Germ Cell-Specific Loss of Dicer1

Anne R. Greenlee, Meng-Shin Shiao, Elizabeth Snyder, F. William Buaas, Tongjun Gu, Timothy M. Stearns, Manju Sharma, Elizabeth P. Murchison, Gabriella C. Puente, Robert E. Braun

PLoS One. 2012; 7(10): e46359. Published online 2012 Oct 4. doi: 10.1371/journal.pone.0046359

PMCID:: PMC3464243

Article PDF–4.0M

Select item 121305612.

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

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