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TITLE: A de novo paradigm for male infertility
AUTHORS: 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.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; Fleischer K.; D’Hauwers K.W.M.; Schaafsma E.; Donald F Conrad; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; Moira K O’Bryan; Peter N Schlegel; Michael L Eisenberg; Jay I Sandlow; Emily S Jungheim; Kenan R Omurtag; Alexandra M Lopes ; Susana Seixas; Filipa Carvalho ; Susana Fernandes; Alberto Barros ; João Gonçalves; Iris Caetano; Graça Pinto; Sónia Correia; Maris Laan; Margus Punab; Ewa Rajpert De Meyts; Niels Jørgensen; Kristian Almstrup; Csilla G Krausz; Keith A Jarvi; Nagirnaja L.; Nagirnaja L.; Conrad D.F.; Friedrich C.; Kliesch S.; Aston K.I.; Aston K.I.; Riera-Escamilla A.; Krausz C.; Gonzaga-Jauregui C.; Santibanez-Koref M.; Elliott D.J.; Vissers L.E.L.M.; Tüttelmann F.; Ramos L.; Xavier M.J.; van der Heijden G.W.; Veltman J.A.; ...More
PUBLISHED: 2022, SOURCE: Nature Communications, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus CrossRef: 34
2
TITLE: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia  Full Text
AUTHORS: Albert Salas-Huetos; Frank Tüttelmann; Margot J Wyrwoll; Sabine Kliesch; Alexandra M Lopes ; João Goncalves; Steven E Boyden; Marius Wöste; James M Hotaling; Liina Nagirnaja; Donald F Conrad; Douglas T Carrell; Kenneth I Aston; Filipa Carvalho ; Alberto Barros ;
PUBLISHED: 2021, SOURCE: HUMAN GENETICS, VOLUME: 140, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 29
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TITLE: Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure  Full Text
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; Judith Yanowitz; Michael Buszczak; Joris A Veltman; Manon Oud; Liina Nagirnaja; Marta Olszewska; Moira K O’Bryan; Donald F Conrad; Maciej Kurpisz; Frank Tüttelmann; Alexander N Yatsenko; Donald F Conrad; Liina Nagirnaja; Kenneth I Aston; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; Peter N Schlegel; Michael L Eisenberg; Jay I Sandlow; Emily S Jungheim; Kenan R Omurtag; Alexandra M Lopes ; Susana Seixas; Filipa Carvalho ; Susana Fernandes; Alberto Barros ; João Gonçalves; Iris Caetano; Graça Pinto; Sónia Correia; Maris Laan; Margus Punab; Ewa Rajpert-De Meyts; Niels Jørgensen; Kristian Almstrup; Csilla G Krausz; Keith A Jarvi; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8
INDEXED IN: Scopus CrossRef: 25
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TITLE: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia (Nov, 10.1007/s00439-020-02236-1, 2020)  Full Text
AUTHORS: Salas Huetos, A; Tüttelmann, F; Wyrwoll, MJ; Kliesch, S; Lopes, AM; Gonçalves, J; Boyden, SE; Wöste, M; Hotaling, JM; Aston, KI; Jenkins, TG; O’Bryan, MK; McLachlan, R; Schlegel, PN; Eisenberg, ML; Sandlow, JI; Smith, JF; Kamal, P; Ober, C; Sigman, M; Hwang, K; Jungheim, ES; Omurtag, KR; Lopes, AM; Carvalho, F; Fernandes, S; Barros, A ; Laan, M; Punab, M; Rajpert De Meyts, E; Jørgensen, N; Almstrup, K; Krausz, CG; Jarvi, KA; Jezek, D; Nagirnaja, L; Conrad, DF; Conrad, DF; Carrell, DT; Aston, KI; ...More
PUBLISHED: 2020, SOURCE: HUMAN GENETICS
INDEXED IN: Scopus WOS
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TITLE: Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia  Full Text
AUTHORS: Albert Salas-Huetos; Frank Tüttelmann; Margot J Wyrwoll; Sabine Kliesch; Alexandra M Lopes ; João Gonçalves; Steven E Boyden; Marius Wöste; James M Hotaling; Liina Nagirnaja; Donald F Conrad; Douglas T Carrell; Kenneth I Aston; Alberto Barros ;
PUBLISHED: 2020, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 1
INDEXED IN: CrossRef