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Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility 由杂合DM结构域突变引起的DMRT1的DNA结合亲和力降低是男性不育的原因 Maric, Tihana; Castillo-Madeen, Helen; Klaric, Monika Logara; Barisic, Antun; Trgovec-Greif, Lovro; Murphy, Mark W.; Juchnewitsch, Anna-Grete; Lillepea, Kristiina; Dutta, Avirup; Zunic, Lucija; Stendahl, Alexandra M.; Punab, Margus; Pomm, Kristjan; Mendoza, Daniel M.; Lopes, Alexandra M.; Sorgic, Ana Merkler; Vugrek, Oliver; Goncalves, Joao; Almstrup, Kristian; Aston, Kenneth, I; Beluzic, Robert; Jezek, Davor; Bertosa, Branimir; Laan, Maris; Bojanac, Ana Katusic; Conrad, Donald F.; Barbalic, Maja 分享 收藏
A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure Guzman-Jimenez, Andrea; Gonzalez-Munoz, Sara; Cervan-Martin, Miriam; Garrido, Nicolas; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Molina, Marta; Lujan, Saturnino; Santos-Ribeiro, Samuel; Vilches, Miguel angel; Espuch, Andrea; Maldonado, Vicente; Galiano-Gutierrez, Noelia; Santamaria-Lopez, Esther; Gonzalez-Ravina, Cristina; Quintana-Ferraz, Fernando; Gomez, Susana; Amoros, David; Martinez-Granados, Luis; Ortega-Gonzalez, Yanira; Burgos, Miguel; Pereira-Caetano, Iris; Bulbul, Ozgur; Castellano, Stefano; Romano, Massimo; Albani, Elena; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Lopes, Alexandra M.; Larriba, Sara; Palomino-Morales, Rogelio J.; Carmona, F. David; Bossini-Castillo, Lara 分享 收藏
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Comparison of the ABC and ACMG systems for variant classification Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Zukauskaite, Gabriele; Sansovic, Ivona; Brea-Fernandez, Alejandro J.; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjorn Ivar; Lorans, Marie; Roomere, Hanno; Petit, Francois M.; Haanpaa, Maria K.; Beneteau, Claire; Perez, Belen; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Ales; Rouzier, Cecile; Chirita-Emandi, Adela; Goncalves, Joao; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T.; Laner, Andreas 分享 收藏
Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure Cervan-Martin, Miriam; Gonzalez-Munoz, Sara; Guzman-Jimenez, Andrea; Higueras-Serrano, Inmaculada; Castilla, Jose A.; Garrido, Nicolas; Lujan, Saturnino; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Lopes, Alexandra M.; Larriba, Sara; Palomino-Morales, Rogelio J.; Bossini-Castillo, Lara; Carmona, F. David 分享 收藏
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Diverse monogenic subforms of human spermatogenic failure 人类生精失败的多种单基因亚形式 Nagirnaja, Liina; Lopes, Alexandra M.; Charng, Wu-Lin; Miller, Brian; Stakaitis, Rytis; Golubickaite, Ieva; Stendahl, Alexandra; Luan, Tianpengcheng; Friedrich, Corinna; Mahyari, Eisa; Fadial, Eloise; Kasak, Laura; Vigh-Conrad, Katinka; Oud, Manon S.; Xavier, Miguel J.; Cheers, Samuel R.; James, Emma R.; Guo, Jingtao; Jenkins, Timothy G.; Riera-Escamilla, Antoni; Barros, Alberto; Carvalho, Filipa; Fernandes, Susana; Goncalves, Joao; Gurnett, Christina A.; Jorgensen, Niels; Jezek, Davor; Jungheim, Emily S.; Kliesch, Sabine; McLachlan, Robert, I; Omurtag, Kenan R.; Pilatz, Adrian; Sandlow, Jay; Smith, James; Eisenberg, Michael L.; Hotaling, James M.; Jarvi, Keith A.; Punab, Margus; Rajpert-De Meyts, Ewa; Carrell, Douglas T.; Krausz, Csilla; Laan, Maris; O'Bryan, Moira K.; Schlegel, Peter N.; Tuettelmann, Frank; Veltman, Joris A.; Almstrup, Kristian; Aston, Kenneth, I; Conrad, Donald F. 分享 收藏
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility 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 分享 收藏
Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility Cervan-Martin, Miriam; Bossini-Castillo, Lara; Guzman-Jimenez, Andrea; Rivera-Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Antonio Castilla, Jose; del Carmen Gonzalvo, Maria; Clavero, Ana; Maldonado, Vicente; Javier Vicente, Francisco; Burgos, Miguel; Jimenez, Rafael; Gonzalez-Munoz, Sara; Sanchez-Curbelo, Josvany; Lopez-Rodrigo, Olga; Pereira-Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa; Barros, Alberto; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra Manuel; Jesus Palomino-Morales, Rogelio; David Carmona, Francisco 分享 收藏
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome Cervan-Martin, Miriam; Bossini-Castillo, Lara; Guzman-Jimenez, Andrea; Rivera-Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Gonzalez-Munoz, Sara; Rodriguez-Martin, Inmaculada; Burgos, Miguel; Jimenez, Rafael; Pinto, Maria Graca; Pereira, Isabel; Nunes, Joaquim; Sanchez-Curbelo, Josvany; Lopez-Rodrigo, Olga; Pereira-Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa; Barros, Alberto; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra M.; Carmona, F. David; Palomino-Morales, Rogelio J. 分享 收藏
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management Kasak, Laura; Lillepea, Kristiina; Nagirnaja, Liina; Aston, Kenneth, I; Schlegel, Peter N.; Goncalves, Joao; Carvalho, Filipa; Moreno-Mendoza, Daniel; Almstrup, Kristian; Eisenberg, Michael L.; Jarvi, Keith A.; O'Bryan, Moira K.; Lopes, Alexandra M.; Conrad, Donald F.; Punab, Margus; Laan, Maris 分享 收藏
Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort Cervan-Martin, Miriam; Bossini-Castillo, Lara; Rivera-Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, Maria del Carmen; Clavero, Ana; Vicente, Francisco Javier; Guzman-Jimenez, Andrea; Burgos, Miguel; Barrionuevo, Francisco Javier; Jimenez, Rafael; Sanchez-Curbelo, Josvany; Lopez-Rodrigo, Olga; Peraza, Maria Fernanda; Pereira-Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa; Barros, Alberto; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra Manuel; Carmona, Francisco David; Palomino-Morales, Rogelio Jesus 分享 收藏
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) Salas-Huetos, Albert; Tuettelmann, Frank; Wyrwoll, Margot J.; Kliesch, Sabine; Lopes, Alexandra M.; Goncalves, Joao; Boyden, Steven E.; Woeste, Marius; Hotaling, James M.; Nagirnaja, Liina; Conrad, Donald F.; Carrell, Douglas T.; Aston, Kenneth I. 分享 收藏
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment 欧洲严重生精障碍患者中男性生育相关位点的评估 Cervan-Martin, Miriam; Bossini-Castillo, Lara; Rivera-Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Guzman-Jimenez, Andrea; Costa, Claudia; Llinares-Burguet, Ines; Khantham, Chiranan; Burgos, Miguel; Barrionuevo, Francisco J.; Jimenez, Rafael; Sanchez-Curbelo, Josvany; Lopez-Rodrigo, Olga; Peraza, M. Fernanda; Pereira-Caetano, Iris; Marques, Patricia I.; Carvalho, Filipa; Barros, Alberto; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra M.; Palomino-Morales, Rogelio J.; Carmona, F. David 分享 收藏
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia Salas-Huetos, Albert; Tuettelmann, Frank; Wyrwoll, Margot J.; Kliesch, Sabine; Lopes, Alexandra M.; Concalves, Joao; Boyden, Steven E.; Woeste, Marius; Hotaling, James M.; Nagirnaja, Liina; Conrad, Donald F.; Carrell, Douglas T.; Aston, Kenneth I. 分享 收藏
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility Wyrwoll, Margot J.; Temel, Sehime G.; Nagirnaja, Liina; Oud, Manon S.; Lopes, Alexandra M.; van der Heijden, Godfried W.; Heald, James S.; Rotte, Nadja; Wistuba, Joachim; Woeste, Marius; Ledig, Susanne; Krenz, Henrike; Smits, Roos M.; Carvalho, Filipa; Goncalves, Joao; Fietz, Daniela; Turkgenc, Burcu; Ergoren, Mahmut C.; Cetinkaya, Murat; Basar, Murad; Kahraman, Semra; McEleny, Kevin; Xavier, Miguel J.; Turner, Helen; Pilatz, Adrian; Roepke, Albrecht; Dugas, Martin; Kliesch, Sabine; Neuhaus, Nina; Aston, Kenneth, I; Conrad, Donald F.; Veltman, Joris A.; Friedrich, Corinna; Tuettelmann, Frank 分享 收藏
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia Ferrao, Jose; Silva, Marisa; Goncalves, Lucia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Reis, Ana Batalha; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; Lacerda, Joao F.; Lavinha, Joao; Goncalves, Joao; Faustino, Paula 分享 收藏
Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure Lima, A. C.; Carvalho, F.; Goncalves, J.; Fernandes, S.; Marques, P. I.; Sousa, M.; Barros, A.; Seixas, S.; Amorim, A.; Conrad, D. F.; Lopes, A. M. 分享 收藏
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