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Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. Riera-Escamilla A, et al. Among authors: ars e. Am J Hum Genet. 2022 Aug 4;109(8):1458-1471. doi: 10.1016/j.ajhg.2022.06.007. Epub 2022 Jul 8. Am J Hum Genet. 2022. PMID: 35809576 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.
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
Krausz C, Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Kliesch S, Forti G. Krausz C, et al. Among authors: ars e. Hum Reprod. 2014 May;29(5):1114-5. doi: 10.1093/humrep/deu037. Epub 2014 Mar 14. Hum Reprod. 2014. PMID: 24634250 No abstract available.
105 results