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1985 1
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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F. Krausz C, et al. Genet Med. 2020 Dec;22(12):1956-1966. doi: 10.1038/s41436-020-0907-1. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741963 Free PMC article.
PURPOSE: Azoospermia affects 1% of men and it can be the consequence of spermatogenic maturation arrest (MA). Although the etiology of MA is likely to be of genetic origin, only 13 genes have been reported as recurrent potential causes of MA. ...Wider implications include …
PURPOSE: Azoospermia affects 1% of men and it can be the consequence of spermatogenic maturation arrest (MA). Although the etiology o …
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 …
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 …