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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. Among authors: ars e. 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.
ESR1 promoter polymorphism is not associated with nonsyndromic cryptorchidism.
Lo Giacco D, Ars E, Bassas L, Galan JJ, Rajmil O, Ruíz P, Caffaratti J, Guarducci E, Ruiz-Castané E, Krausz C. Lo Giacco D, et al. Among authors: ars e. Fertil Steril. 2011 Jan;95(1):369-71, 371.e1-2. doi: 10.1016/j.fertnstert.2010.08.051. Fertil Steril. 2011. PMID: 20887985 Free article.
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Forti G, Kliesch S, Krausz C. Chianese C, et al. Among authors: ars e. Hum Reprod. 2013 Nov;28(11):3155-60. doi: 10.1093/humrep/det322. Epub 2013 Sep 5. Hum Reprod. 2013. PMID: 24008148
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. Among authors: ars e. 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.
105 results