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1.
15 p, 1.2 MB A systematic review of the validated monogenic causes of human male infertility : 2020 update and a discussion of emerging gene-disease relationships / Houston, Brendan J. (School of BioSciences and Bio21 Institute. The University of Melbourne) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Wyrwoll, Margot J. (Institute of Reproductive Genetics. University of Münster) ; Salas-Huetos, Albert (Department of Nutrition. Harvard T.H. Chan School of Public Health. Harvard University) ; Xavier, Miguel J. (Faculty of Medical Sciences. Biosciences Institute. Newcastle University) ; Nagirnaja, Liina (Genetics of Male Infertility Initiative (GEMINI)) ; Friedrich, Corinna (Institute of Reproductive Genetics. University of Münster) ; Conrad, Donald F. (International Male Infertility Genomics Consortium (IMIGC)) ; Aston, Kenneth I. (International Male Infertility Genomics Consortium (IMIGC)) ; Krausz, Csilla (University of Florence) ; Tüttelmann, Frank (International Male Infertility Genomics Consortium (IMIGC)) ; O'bryan, Moira K. (International Male Infertility Genomics Consortium (IMIGC)) ; Veltman, Joris A. (International Male Infertility Genomics Consortium (IMIGC)) ; Oud, Manon S. (Department of Human Genetics. Donders Institute for Brain. Cognition and Behaviour. Radboudumc) ; Universitat Autònoma de Barcelona
Background: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. [...]
2022 - 10.1093/humupd/dmab030
Human Reproduction Update, Vol. 28 Núm. 1 (january 2022) , p. 15-29  
Registre complet - Creative Commons
2.
18 p, 4.7 MB Diverse monogenic subforms of human spermatogenic failure / Nagirnaja, Liina (Oregon Health & Science University) ; Lopes, Alexandra M. (IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto) ; Charng, Wu-Lin (Washington University) ; Miller, Brian (Oregon Health & Science University) ; Stakaitis, Rytis (Lithuanian University of Health Sciences) ; Golubickaite, Ieva (Lithuanian University of Health Sciences) ; Stendahl, Alexandra (Oregon Health & Science University) ; Luan, Tianpengcheng (The University of Melbourne) ; Friedrich, Corinna (University of Münster) ; Mahyari, Eisa (Oregon Health & Science University) ; Fadial, Eloise (Oregon Health & Science University) ; Kasak, Laura (University of Tartu) ; Vigh-Conrad, Katinka (Oregon Health & Science University) ; Oud, Manon S. (Radboud University Medical Centre) ; Xavier, Miguel (Newcastle University) ; Cheers, Samuel R. (The University of Melbourne) ; James, Emma R. (University of Utah School of Medicine) ; Guo, Jingtao (University of Utah School of Medicine) ; Jenkins, Timothy G. (University of Utah School of Medicine) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Barros, Alberto (Faculdade de Medicina da Universidade do Porto) ; Carvalho, Filipa (Faculdade de Medicina da Universidade do Porto) ; Fernandes, Susana (Faculdade de Medicina da Universidade do Porto) ; Gonçalves, João (Nova Medical School) ; Gurnett, Christina A. (Washington University.) ; Jørgensen, Niels (Copenhagen University Hospital - Rigshospitalet) ; Jezek, Davor (University of Zagreb School of Medicine) ; Jungheim, Emily S. (Division of Reproductive Endocrinology) ; Kliesch, Sabine (University Hospital of Münster (Alemanya)) ; McLachlan, Robert I. (Monash University) ; Omurtag, Kenan R. (Division of Reproductive Endocrinology) ; Pilatz, Adrian (Justus Liebig University) ; Sandlow, Jay I. (Medical College of Wisconsin) ; Smith, James (University California San Francisco) ; Eisenberg, Michael L. (Stanford University School of Medicine) ; Hotaling, James M. (University of Utah School of Medicine) ; Jarvi, Keith A. (University of Toronto) ; Punab, Margus (University of Tartu) ; Rajpert-De Meyts, Ewa (Copenhagen University Hospital - Rigshospitalet) ; Carrell, Douglas T. (University of Utah School of Medicine) ; Krausz, Csilla (University of Florence) ; Laan, Maris (University of Tartu) ; O'Bryan, Moira Kathleen (Monash University) ; Schlegel, Peter N. (Weill Cornell Medicine) ; Tüttelmann, Frank (University of Münster) ; Veltman, Joris A. (Newcastle University) ; Almstrup, Kristian (Copenhagen University Hospital - Rigshospitalet) ; Aston, Kenneth I. (University of Utah School of Medicine) ; Conrad, Donald F. (Oregon Health & Science University) ; Universitat Autònoma de Barcelona
Non-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. [...]
2022 - 10.1038/s41467-022-35661-z
Nature communications, Vol. 13 (december 2022)  
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