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TITLE: Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
AUTHORS: Cervan Martin, Miriam; Tuettelmann, Frank; Lopes, Alexandra M. ; Bossini Castillo, Lara; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Carmen Gonzalvo, M.; Clavero, Ana; Maldonado, Vicente; Vicente, F. Javier; Gonzalez Munoz, Sara; Guzman Jimenez, Andrea; Burgos, Miguel; Jimenez, Rafael; Pacheco, Alberto; Gonzalez, Cristina; Gomez, Susana; Amoros, David; Aguilar, Jesus; Quintana, Fernando; Calhaz Jorge, Carlos; Aguiar, Ana; Nunes, Joaquim; Sousa, Sandra; Pereira, Isabel; Pinto, Maria Graca; Correia, Sonia; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Martin, Javier; Pereira Caetano, Iris; Marques, Patricia I.; Carvalho, Filipa ; Barros, Alberto ; Gromoll, Joerg; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Kliesch, Sabine; Palomino Morales, Rogelio J.; Carmona, F. David; ...More
PUBLISHED: 2022, SOURCE: COMMUNICATIONS BIOLOGY, VOLUME: 5, ISSUE: 1

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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

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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

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TITLE: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
AUTHORS: Csilla Krausz; Antoni Riera Escamilla; Daniel Moreno Mendoza; Kaylee Holleman; Francesca Cioppi; Ferran Algaba; Marc Pybus; Corinna Friedrich; Margot J Wyrwoll; Elena Casamonti; Sara Pietroforte; Liina Nagirnaja; Alexandra M Lopes ; Sabine Kliesch; Adrian Pilatz; Douglas T Carrell; Donald F Conrad; Elisabet Ars; Eduard Ruiz Castane; Kenneth I Aston; Willy M Baarends; Frank Tuettelmann; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE

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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: 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

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