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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. 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.
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background.
Krausz C, Giachini C, Xue Y, O'Bryan MK, Gromoll J, Rajpert-de Meyts E, Oliva R, Aknin-Seifer I, Erdei E, Jorgensen N, Simoni M, Ballescà JL, Levy R, Balercia G, Piomboni P, Nieschlag E, Forti G, McLachlan R, Tyler-Smith C. Krausz C, et al. J Med Genet. 2009 Jan;46(1):21-31. doi: 10.1136/jmg.2008.059915. Epub 2008 Sep 9. J Med Genet. 2009. PMID: 18782837 Free PMC article.
Expression of katanin p80 in human spermatogenesis.
Pleuger C, Fietz D, Hartmann K, Weidner W, Kliesch S, O'Bryan MK, Dorresteijn A, Bergmann M. Pleuger C, et al. Fertil Steril. 2016 Dec;106(7):1683-1690.e1. doi: 10.1016/j.fertnstert.2016.08.043. Epub 2016 Oct 4. Fertil Steril. 2016. PMID: 27717557 Free article.
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. Hum Mutat. 2017 Nov;38(11):1592-1605. doi: 10.1002/humu.23312. Epub 2017 Sep 6. Hum Mutat. 2017. PMID: 28801929
213 results