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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: moreno mendoza d. 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.
gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study.
Moreno-Mendoza D, Casamonti E, Paoli D, Chianese C, Riera-Escamilla A, Giachini C, Fino MG, Cioppi F, Lotti F, Vinci S, Magini A, Ars E, Sanchez-Curbelo J, Ruiz-Castane E, Lenzi A, Lombardo F, Krausz C. Moreno-Mendoza D, et al. Eur J Hum Genet. 2019 Oct;27(10):1578-1588. doi: 10.1038/s41431-019-0420-7. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053779 Free PMC article.
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: moreno mendoza d. 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.
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. Riera-Escamilla A, et al. Among authors: moreno mendoza d. Hum Reprod. 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042. Hum Reprod. 2019. PMID: 31125047
Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study.
Moreno-Mendoza D, Casamonti E, Paoli D, Chianese C, Riera-Escamilla A, Giachini C, Fino MG, Cioppi F, Lotti F, Vinci S, Magini A, Ars E, Sanchez-Curbelo J, Ruiz-Castane E, Lenzi A, Lombardo F, Krausz C. Moreno-Mendoza D, et al. Eur J Hum Genet. 2020 Oct;28(10):1476. doi: 10.1038/s41431-020-0704-y. Eur J Hum Genet. 2020. PMID: 32788662 Free PMC article.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium; Punab M, Laan M. Kasak L, et al. Among authors: moreno mendoza d. Hum Reprod. 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. Hum Reprod. 2022. PMID: 35535697 Free PMC article.
Corrigendum. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. Riera-Escamilla A, et al. Among authors: moreno mendoza d. Hum Reprod. 2020 Aug 1;35(8):1945-1946. doi: 10.1093/humrep/deaa179. Hum Reprod. 2020. PMID: 32715309 No abstract available.
11 results