Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1991 1
1996 2
1997 2
1998 1
1999 2
2000 1
2001 1
2002 2
2003 1
2004 5
2005 4
2006 10
2007 7
2008 4
2009 7
2010 9
2011 5
2012 8
2013 9
2014 6
2015 7
2016 2
2017 8
2018 9
2019 5
2020 13
2021 8
2022 7
2023 5
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

131 results

Results by year

Filters applied: . Clear all
Page 1
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E. Krausz C, et al. Hum Genet. 2017 May;136(5):637-655. doi: 10.1007/s00439-017-1793-8. Epub 2017 Apr 29. Hum Genet. 2017. PMID: 28456834 Review.
Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical relevance. The AZF deletions remove genes with predicted spermatogenic function en block and are the most …
Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number varia …
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. Houston BJ, et al. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
We assessed the experimental quality, patient phenotype assessment and functional evidence based on gene expression, mutant in-vitro cell and in-vivo animal model phenotypes. A final score was used to determine the clinical validity of each GDR, across the following five c …
We assessed the experimental quality, patient phenotype assessment and functional evidence based on gene expression, mutant in-vitro cell an …
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F. Wyrwoll MJ, et al. Eur Urol. 2023 May;83(5):452-462. doi: 10.1016/j.eururo.2022.05.011. Epub 2022 Jun 8. Eur Urol. 2023. PMID: 35690514
BACKGROUND: Crypto- and azoospermia (very few/no sperm in the semen) are main contributors to male factor infertility. Genetic causes for spermatogenic failure (SPGF) include Klinefelter syndrome and Y-chromosomal azoospermia factor microdeletions, and CFTR mutation …
BACKGROUND: Crypto- and azoospermia (very few/no sperm in the semen) are main contributors to male factor infertility. Genetic causes for …
Genetic causes of spermatogenic failure.
Massart A, Lissens W, Tournaye H, Stouffs K. Massart A, et al. Asian J Androl. 2012 Jan;14(1):40-8. doi: 10.1038/aja.2011.67. Epub 2011 Dec 5. Asian J Androl. 2012. PMID: 22138898 Free PMC article. Review.
Approximately 10%-15% of couples are infertile, and a male factor is involved in almost half of these cases. This observation is due in part to defects in spermatogenesis, and the underlying causes, including genetic abnormalities, remain largely unknown. ...
Approximately 10%-15% of couples are infertile, and a male factor is involved in almost half of these cases. This observation is due …
Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis.
Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R. Jiang Y, et al. Sci Rep. 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. Sci Rep. 2023. PMID: 37500704 Free PMC article.
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. ...The expression levels of the hub genes were significantly decreased in patients with SCOS compared to that in normal spermatogenesi …
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ c …
Consequences of Y chromosome microdeletions beyond male infertility.
Colaco S, Modi D. Colaco S, et al. J Assist Reprod Genet. 2019 Jul;36(7):1329-1337. doi: 10.1007/s10815-019-01492-z. Epub 2019 Jun 18. J Assist Reprod Genet. 2019. PMID: 31214882 Free PMC article. Review.
The azoospermia factor (AZF) loci on the Y chromosome contain genes that were thought to be testis specific with their deletions leading to spermatogenic failure. However, beyond the testis, the AZF genes (mainly those in AZFa and AZFb loci) are widely expressed in …
The azoospermia factor (AZF) loci on the Y chromosome contain genes that were thought to be testis specific with their deletions leading to …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M. Kasak L, et al. Hum Genet. 2021 Jan;140(1):135-154. doi: 10.1007/s00439-020-02112-y. Epub 2020 Jan 18. Hum Genet. 2021. PMID: 31955275 Review.
Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. ...Uncovering the loci and biological processes implicated i …
Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromoso …
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. Lillepea K, et al. Am J Hum Genet. 2024 May 2;111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013. Epub 2024 Apr 12. Am J Hum Genet. 2024. PMID: 38614076
Infertility, affecting 10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozo …
Infertility, affecting 10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathoge …
CHD7 missense variants and clinical characteristics of Chinese males with infertility.
Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R. Li L, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1372. doi: 10.1002/mgg3.1372. Epub 2020 Jun 22. Mol Genet Genomic Med. 2020. PMID: 32573075 Free PMC article.
The patients underwent clinical examination and reproductive hormone testing. A panel of genes including CHD7 and others related to spermatogenic failure was sequenced by targeted-gene exome sequencing. RESULTS: Three patients with severe oligozoospermia had CHD7 va …
The patients underwent clinical examination and reproductive hormone testing. A panel of genes including CHD7 and others related to sperm …
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC. Arshad MA, et al. Int Urol Nephrol. 2020 Nov;52(11):2015-2038. doi: 10.1007/s11255-020-02529-4. Epub 2020 Jun 9. Int Urol Nephrol. 2020. PMID: 32519242 Review.
Given the variability in clinical presentation, the potential role of factors that can predict the likelihood of successful testicular SR needs to be clarified. This article summarizes the current evidence concerning the variables predicting SR success in non-obstru …
Given the variability in clinical presentation, the potential role of factors that can predict the likelihood of successful testicula …
131 results