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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
Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020.
Ars E, Bernis C, Fraga G, Furlano M, Martínez V, Martins J, Ortiz A, Pérez-Gómez MV, Rodríguez-Pérez JC, Sans L, Torra R; en nombre del grupo de trabajo de Enfermedades Renales Hereditarias de la Sociedad Española de Nefrología. Ars E, et al. Nefrologia (Engl Ed). 2022 Jul-Aug;42(4):367-389. doi: 10.1016/j.nefroe.2022.11.011. Epub 2022 Nov 17. Nefrologia (Engl Ed). 2022. PMID: 36404270 Free article.
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.
Furlano M, Ars E, Matamala A, Brossa V, Martí J, Del Prado-Venegas M, Crespi J, Roe E, Torra R. Furlano M, et al. Among authors: ars e. Case Rep Genet. 2022 Dec 30;2022:3208810. doi: 10.1155/2022/3208810. eCollection 2022. Case Rep Genet. 2022. PMID: 36619006 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.
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.
108 results