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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.
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
Furlano M, Pilco-Teran M, Pybus M, Martínez V, Aza-Carmona M, Rius Peris A, Pérez-Gomez V, Berná G, Mazon J, Hernández J, Fayos de Arizón L, Viera E, Gich I, Pérez HV, Gomá-Garcés E, Albero Dolon JL, Ars E, Torra R. Furlano M, et al. Among authors: ars e. Nephrol Dial Transplant. 2024 Aug 30;39(9):1442-1448. doi: 10.1093/ndt/gfae031. Nephrol Dial Transplant. 2024. PMID: 38317457 Free PMC 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.
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.
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.
108 results