2 documents found, page 1 of 1
Diverse monogenic subforms of human spermatogenic failure
Nagirnaja, Liina; Lopes, Alexandra M.; Charng, Wu Lin; Miller, Brian; Stakaitis, Rytis; Golubickaite, Ieva; Stendahl, Alexandra; Luan, TianpengchengNon-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in...
A de novo paradigm for male infertility
Oud, M. S.; Smits, R. M.; Smith, H. E.; Mastrorosa, F. K.; Holt, G. S.; Houston, B. J.; de Vries, P. F.; Alobaidi, B. K.S.; Batty, L. E.; Ismail, H.Funding Information: (DFG, CRU326) to C.F. and F.T. This project was also supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., by grants from the National Institutes of Health of the United States of America (R01HD078641 to D.F.C. and K.I.A., P50HD096723 to D.F.C.) and from the Biotechnology and Biological Sciences Research Council (BB/S008039/1...