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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 …
Clinical management of infertile men with nonobstructive azoospermia.
Esteves SC. Esteves SC. Asian J Androl. 2015 May-Jun;17(3):459-70. doi: 10.4103/1008-682X.148719. Asian J Androl. 2015. PMID: 25677138 Free PMC article. Review.
First, a differential diagnosis of azoospermia is made to confirm/establish that NOA is due to spermatogenic failure. Second, genetic testing is carried out not only to detect the males in whom NOA is caused by microdeletions of the long arm of the Y chromosome, but …
First, a differential diagnosis of azoospermia is made to confirm/establish that NOA is due to spermatogenic failure. Second, …
Clinical Review#: State of the art for genetic testing of infertile men.
McLachlan RI, O'Bryan MK. McLachlan RI, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1013-24. doi: 10.1210/jc.2009-1925. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089613 Review.
Intracytoplasmic sperm injection (ICSI) now provides fertility in many cases of severe idiopathic spermatogenic failure and obstructive azoospermia. Genetic causes must be sought by systematic evaluation of infertile men and affected couples informed about the impli …
Intracytoplasmic sperm injection (ICSI) now provides fertility in many cases of severe idiopathic spermatogenic failure and ob …
Scientific molecular basis for treatment of reproductive failure in the human: an insight into the future.
Silber SJ, Barbey N. Silber SJ, et al. Biochim Biophys Acta. 2012 Dec;1822(12):1981-96. doi: 10.1016/j.bbadis.2012.10.004. Epub 2012 Oct 6. Biochim Biophys Acta. 2012. PMID: 23046814 Free article. Review.
CONCLUSION: With stem cell biology and molecular understanding of reproductive failure, new therapies for previously untreatable infertility are currently on the near horizon. ...This article is part of a Special Issue entitled: Molecular Genetics of Human Reproduct …
CONCLUSION: With stem cell biology and molecular understanding of reproductive failure, new therapies for previously untreatab …
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM. Hull MG, et al. Br Med J (Clin Res Ed). 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. Br Med J (Clin Res Ed). 1985. PMID: 3935248 Free PMC article.
Those attending gynaecology clinics made up 10% of new and 22% of all attendances. Failure of ovulation (amenorrhoea or oligomenorrhoea) occurred in 21% of cases and was successfully treated (two year conception rates of 96% and 78%). ...Obstructive azoospermia or primary …
Those attending gynaecology clinics made up 10% of new and 22% of all attendances. Failure of ovulation (amenorrhoea or oligomenorrho …
Locating potentially lethal genes using the abnormal distributions of genotypes.
Ding X, Zhu X. Ding X, et al. Sci Rep. 2019 Jul 22;9(1):10543. doi: 10.1038/s41598-019-47076-w. Sci Rep. 2019. PMID: 31332212 Free PMC article.
Among them, 5 genes were related to fatal childhood diseases or embryonic development, 1 gene can cause spermatogenic failure, and the other 4 genes were associated with many genetic diseases. ...
Among them, 5 genes were related to fatal childhood diseases or embryonic development, 1 gene can cause spermatogenic failure, …
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C. Lo Giacco D, et al. Eur J Hum Genet. 2014 Jun;22(6):754-61. doi: 10.1038/ejhg.2013.253. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193344 Free PMC article.
Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with 2 10(6)/ml; (2) classical TESE …
Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated wi …
Reply to Alberto Ferlin's Letter to the Editor, re: Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review, Meta-analysis of European, North American Studies. Eur Urol 2019, 76:626-36. Indication for Y Chromosome Microdeletion Analysis in Infertile Men Should Not be, Based Merely on Sperm Concentration: Shared Decision-Making and Reconsideration of Thresholds for Genetic Testing of Men with Severe Spermatogenic Failure.
Kohn TP, Kohn JR, Owen RC, Matthew Coward R. Kohn TP, et al. Eur Urol. 2020 Apr;77(4):e98-e99. doi: 10.1016/j.eururo.2020.01.013. Epub 2020 Jan 21. Eur Urol. 2020. PMID: 31980315 No abstract available.
In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J. Shulman A, et al. Hum Reprod. 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. Hum Reprod. 1999. PMID: 10221708
We assessed the efficacy of ICSI with totally immotile testicular spermatozoa extracted from the testes of azoospermic patients with severe spermatogenic failure (group 1) and compared these results with those from spermatozoa which were recovered after several hour …
We assessed the efficacy of ICSI with totally immotile testicular spermatozoa extracted from the testes of azoospermic patients with severe …