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Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Oud MS, Ramos L, O'Bryan MK, McLachlan RI, Okutman Ö, Viville S, de Vries PF, Smeets DFCM, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LELM, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ. Oud MS, et al. Among authors: veltman ja. Hum Mutat. 2017 Nov;38(11):1592-1605. doi: 10.1002/humu.23312. Epub 2017 Sep 6. Hum Mutat. 2017. PMID: 28801929
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A. Nicolas G, et al. Among authors: veltman ja. Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13. Alzheimers Dement. 2018. PMID: 30114415 Free PMC article.
Disease gene discovery in male infertility: past, present and future.
Xavier MJ, Salas-Huetos A, Oud MS, Aston KI, Veltman JA. Xavier MJ, et al. Among authors: veltman ja. Hum Genet. 2021 Jan;140(1):7-19. doi: 10.1007/s00439-020-02202-x. Epub 2020 Jul 7. Hum Genet. 2021. PMID: 32638125 Free PMC article. Review.
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: veltman ja. 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.
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F. Liu C, et al. Among authors: veltman ja. Am J Hum Genet. 2021 Feb 4;108(2):309-323. doi: 10.1016/j.ajhg.2021.01.002. Epub 2021 Jan 19. Am J Hum Genet. 2021. PMID: 33472045 Free PMC article.
A global approach to addressing the policy, research and social challenges of male reproductive health.
Barratt CLR, De Jonge CJ, Anderson RA, Eisenberg ML, Garrido N, Rautakallio Hokkanen S, Krausz C, Kimmins S, O'Bryan MK, Pacey AA, Tüttelmann F, Veltman JA. Barratt CLR, et al. Among authors: veltman ja. Hum Reprod Open. 2021 Mar 21;2021(1):hoab009. doi: 10.1093/hropen/hoab009. eCollection 2021. Hum Reprod Open. 2021. PMID: 33768166 Free PMC article.
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: veltman ja. 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.
277 results