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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Wyrwoll MJ, Temel ŞG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N; GEMINI Consortium; Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann F. Wyrwoll MJ, et al. Among authors: nagirnaja l. Am J Hum Genet. 2020 Aug 6;107(2):342-351. doi: 10.1016/j.ajhg.2020.06.010. Epub 2020 Jul 15. Am J Hum Genet. 2020. PMID: 32673564 Free PMC article.
Genetic intersection of male infertility and cancer.
Nagirnaja L, Aston KI, Conrad DF. Nagirnaja L, et al. Fertil Steril. 2018 Jan;109(1):20-26. doi: 10.1016/j.fertnstert.2017.10.028. Fertil Steril. 2018. PMID: 29307395 Free PMC article. Review.
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium; Conrad DF, Laan M. Kasak L, et al. Among authors: nagirnaja l. Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005. Am J Hum Genet. 2018. PMID: 30075111 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: nagirnaja l. 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.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM; GEMINI Consortium; Nagirnaja L, Conrad DF, Carrell DT, Aston KI. Salas-Huetos A, et al. Among authors: nagirnaja l. Hum Genet. 2021 Jan;140(1):217-227. doi: 10.1007/s00439-020-02236-1. Epub 2020 Nov 19. Hum Genet. 2021. PMID: 33211200 Free PMC article.
Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Gonçalves J, Boyden SE, Wöste M, Hotaling JM; GEMINI Consortium; Nagirnaja L, Conrad DF, Carrell DT, Aston KI. Salas-Huetos A, et al. Among authors: nagirnaja l. Hum Genet. 2021 Jan;140(1):229. doi: 10.1007/s00439-020-02244-1. Hum Genet. 2021. PMID: 33377991 No abstract available.
Lack of evidence for a role of PIWIL1 variants in human male infertility.
Oud MS, Volozonoka L, Friedrich C, Kliesch S, Nagirnaja L, Gilissen C, O'Bryan MK, McLachlan RI, Aston KI, Tüttelmann F, Conrad DF, Veltman JA. Oud MS, et al. Among authors: nagirnaja l. Cell. 2021 Apr 15;184(8):1941-1942. doi: 10.1016/j.cell.2021.03.001. Cell. 2021. PMID: 33861957 Free PMC article. No abstract available.
42 results