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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia Riera-Escamilla, A.; Arafa, M.M.; Farnetani, G.; Xavier, M.J.; Oud, M.S.; Majzoub, A.A.; Ramos, L.; Abrardo, C.; Spinelli, M.; Moreno-Mendoza, D.; 等. 非梗阻性无精子症患者睾丸精子提取术结局的遗传决定因素：一项大型多中心研究的见解。Hum. Reprod. Open 2025, 2025, hoaf049. [Google Scholar] [CrossRef] Antoni Riera-Escamilla; Mohamed M Arafa; Ginevra Farnetani; Miguel J Xavier; Manon S Oud; Ahmad A Majzoub; Liliana Ramos; Chiara Abrardo; Matilde Spinelli; Daniel Moreno-Mendoza; Giuseppe Defazio; Elisabet Ars; Marc Pybus; Josvany R Sánchez Curbelo; Haitham T Elbardisi; Shoaib Nawaz; Najeeb Syed; Eduard Ruiz-Castané; Godfried W van der Heijden; Khalid A Fakhro; Joris A Veltman; Csilla Krausz 分享 收藏
When should the nephrologist think about genetics in patients with glomerular diseases? Torra, Roser; Barros, Xoana; Diaz-Encarnacion, Montserrat; Fayos, Leonor; Furlano, Monica; Pilco, Melissa; Pybus, Marc; Shabaka, Amir; Viera, Elizabeth; Ars, Elisabet 分享 收藏
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140 由单等位基因致病性变异引起的IFT140非典型常染色体显性多囊肾病临床谱与预后 Zagorec, N; Calamel, A; Delaporte, M; Olinger, E; Orr, S; Sayer, JA; Pillay, VG; Denommé-Pichon, AS; Mau-Them, FT; Nambot, S; Faivre, L; Ars, E; Torra, R; Ong, ACM; Devuyst, O; Perico, N; Després, AM; Lemoine, H; de Fallois, J; Brousse, R; Hummel, A; Knebelmann, B; Maisonneuve, N; Halbritter, J; Le Meur, Y; Audrézet, MP; Cornec-Le Gall, E 分享 收藏
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y.; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S.; Canetta, Pietro A.; Appel, Gerald B.; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C.; Reich, Heather; Pei, York; Ravani, Pietro; Galesic, Kresimir; Maixnerova, Dita; Tesar, Vladimir; Stengel, Benedicte; Metzger, Marie; Canaud, Guillaume; Maillard, Nicolas; Berthoux, Francois; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato; Nelson, Raoul; Wyatt, Robert J.; Smoyer, William; Mahan, John; Samhar, Al-Akash; Hidalgo, Guillermo; Quiroga, Alejandro; Weng, Patricia; Sreedharan, Raji; Selewski, David; Davis, Keefe; Kallash, Mahmoud; Vasylyeva, Tetyana L.; Rheault, Michelle; Chishti, Aftab; Ranch, Daniel; Wenderfer, Scott E.; Samsonov, Dmitry; Claes, Donna J.; Akchurin, Oleh; Goumenos, Dimitrios; Stangou, Maria; Nagy, Judit; Kovacs, Tibor; Fiaccadori, Enrico; Amoroso, Antonio; Barlassina, Cristina; Cusi, Daniele; Del Vecchio, Lucia; Battaglia, Giovanni Giorgio; Bodria, Monica; Boer, Emanuela; Bono, Luisa; Boscutti, Giuliano; Caridi, Gianluca; Lugani, Francesca; Ghiggeri, GianMarco; Coppo, Rosanna; Peruzzi, Licia; Esposito, Vittoria; Esposito, Ciro; Feriozzi, Sandro; Polci, Rosaria; Frasca, Giovanni; Galliani, Marco; Garozzo, Maurizio; Mitrotti, Adele; Gesualdo, Loreto; Granata, Simona; Zaza, Gianluigi; Londrino, Francesco; Magistroni, Riccardo; Pisani, Isabella; Magnano, Andrea; Marcantoni, Carmelita; Messa, Piergiorgio; Mignani, Renzo; Pani, Antonello; Ponticelli, Claudio; Roccatello, Dario; Salvadori, Maurizio; Salvi, Erica; Santoro, Domenico; Gembillo, Guido; Savoldi, Silvana; Spotti, Donatella; Zamboli, Pasquale; Izzi, Claudia; Alberici, Federico; Delbarba, Elisa; Florczak, Michal; Krata, Natalia; Mucha, Krzysztof; Paczek, Leszek; Niemczyk, Stanislaw; Moszczuk, Barbara; Panczyk-Tomaszewska, Malgorzata; Mizerska-Wasiak, Malgorzata; Perkowska-Ptasinska, Agnieszka; Baczkowska, Teresa; Durlik, Magdalena; Pawlaczyk, Krzysztof; Sikora, Przemyslaw; Zaniew, Marcin; Kaminska, Dorota; Krajewska, Magdalena; Kuzmiuk-Glembin, Izabella; Heleniak, Zbigniew; Bullo-Piontecka, Barbara; Liberek, Tomasz; Debska-Slizien, Alicja; Hryszko, Tomasz; Materna-Kiryluk, Anna; Miklaszewska, Monika; Szczepanska, Maria; Dyga, Katarzyna; Machura, Edyta; Siniewicz-Luzenczyk, Katarzyna; Pawlak-Bratkowska, Monika; Tkaczyk, Marcin; Runowski, Dariusz; Kwella, Norbert; Drozdz, Dorota; Habura, Ireneusz; Kronenberg, Florian; Prikhodina, Larisa; van Heel, David; Fontaine, Bertrand; Cotsapas, Chris; Wijmenga, Cisca; Franke, Andre; Annese, Vito; Gregersen, Peter K.; Parameswaran, Sreeja; Weirauch, Matthew; Kottyan, Leah; Harley, John B.; Suzuki, Hitoshi; Narita, Ichiei; Goto, Shin; Lee, Hajeong; Kim, Dong Ki; Kim, Yon Su; Park, Jin-Ho; Cho, BeLong; Choi, Murim; Van Wijk, Ans; Huerta, Ana; Ars, Elisabet; Ballarin, Jose; Lundberg, Sigrid; Vogt, Bruno; Mani, Laila-Yasmin; Caliskan, Yasar; Barratt, Jonathan; Abeygunaratne, Thilini; Kalra, Philip A.; Gale, Daniel P.; Panzer, Ulf; Rauen, Thomas; Floege, Juergen; Schlosser, Pascal; Ekici, Arif B.; Eckardt, Kai-Uwe; Chen, Nan; Xie, Jingyuan; Lifton, Richard P.; Loos, Ruth J. F.; Kenny, Eimear E.; Ionita-Laza, Iuliana; Koettgen, Anna; Julian, Bruce A.; Novak, Jan; Scolari, Francesco; Zhang, Hong; Gharavi, Ali G. 分享 收藏
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (vol 29, pg 1186, 2021) Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. 分享 收藏
Digenic Alport Syndrome Savige, Judy; Renieri, Alessandra; Ars, Elisabet; Daga, Sergio; Pinto, Anna Maria; Rothe, Hansjorg; Gale, Daniel P.; Aksenova, Marina; Cerkauskaite, Agne; Bielska, Olga; Lipska-Zietkiewicz, Beata; Gibson, Joel T. 分享 收藏
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure Riera-Escamilla, Antoni; Vockel, Matthias; Nagirnaja, Liina; Xavier, Miguel J.; Carbonell, Albert; Moreno-Mendoza, Daniel; Pybus, Marc; Farnetani, Ginevra; Rosta, Viktoria; Cioppi, Francesca; Friedrich, Corinna; Oud, Manon S.; van der Heijden, Godfried W.; Soave, Armin; Diemer, Thorsten; Ars, Elisabet; Sanchez-Curbelo, Josvany; Kliesch, Sabine; O'Bryan, Moira K.; Ruiz-Castane, Eduard; Azorin, Fernando; Veltman, Joris A.; Aston, Kenneth, I; Conrad, Donald F.; Tuettelmann, Frank; Krausz, Csilla 分享 收藏
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference 慢性肾脏疾病的遗传学: 肾脏疾病的结论: 改善全球结果 (KDIGO) 争议会议 Koettgen, Anna; Cornec-Le Gall, Emilie; Halbritter, Jan; Kiryluk, Krzysztof; Mallett, Andrew J.; Parekh, Rulan S.; Rasouly, Hila Milo; Sampson, Matthew G.; Tin, Adrienne; Antignac, Corinne; Ars, Elisabet; Bergmann, Carsten; Bleyer, Anthony J.; Bockenhauer, Detlef; Devuyst, Olivier; Florez, Jose C.; Fowler, Kevin J.; Franceschini, Nora; Fukagawa, Masafumi; Gale, Daniel P.; Gbadegesin, Rasheed A.; Goldstein, David B.; Grams, Morgan E.; Greka, Anna; Gross, Oliver; Guay-Woodford, Lisa M.; Harris, Peter C.; Hoefele, Julia; Hung, Adriana M.; Knoers, Nine V. A. M.; Kopp, Jeffrey B.; Kretzler, Matthias; Lanktree, Matthew B.; Lipska-Zietkiewicz, Beata S.; Nicholls, Kathleen; Nozu, Kandai; Ojo, Akinlolu; Parsa, Afshin; Pattaro, Cristian; Pei, York; Pollak, Martin R.; Rhee, Eugene P.; Sanna-Cherchi, Simone; Savige, Judy; Sayer, John A.; Scolari, Francesco; Sedor, John R.; Sim, Xueling; Somlo, Stefan; Susztak, Katalin; Tayo, Bamidele O.; Torra, Roser; van Eerde, Albertien M.; Weinstock, Andre; Winkler, Cheryl A.; Wuttke, Matthias; Zhang, Hong; King, Jennifer M.; Cheung, Michael; Jadoul, Michel; Winkelmayer, Wolfgang C.; Gharavi, Ali G. 分享 收藏
Guidelines for Genetic Testing and Management of Alport Syndrome Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabet; Bierzynska, Agnieszka; Gangemi, Concetta; Renieri, Alessandra; Storey, Helen; Flinter, Frances 分享 收藏
Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease Naranjo, Javier; Furlano, Monica; Torres, Ferran; Hernandez, Jonathan; Pybus, Marc; Ejarque, Laia; Cordoba, Christian; Guirado, Lluis; Ars, Elisabet; Torra, Roser 分享 收藏
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study Furlano, Monica; Martinez, Victor; Pybus, Marc; Arce, Yolanda; Crespi, Jaume; Venegas, Maria del Prado; Bullich, Gemma; Domingo, Andrea; Ayasreh, Nadia; Benito, Silvia; Lorente, Laura; Ruiz, Patricia; Gonzalez, Vanesa Lopez; Arlandis, Rosa; Cabello, Elisa; Torres, Ferran; Guirado, Lluis; Ars, Elisabet; Torra, Roser 分享 收藏
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. 分享 收藏
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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men Krausz, Csilla; Riera-Escamilla, Antoni; Moreno-Mendoza, Daniel; Holleman, Kaylee; Cioppi, Francesca; Algaba, Ferran; Pybus, Marc; Friedrich, Corinna; Wyrwoll, Margot J.; Casamonti, Elena; Pietroforte, Sara; Nagirnaja, Liina; Lopes, Alexandra M.; Kliesch, Sabine; Pilatz, Adrian; Carrell, Douglas T.; Conrad, Donald F.; Ars, Elisabet; Ruiz-Castane, Eduard; Aston, Kenneth, I; Baarends, Willy M.; Tuettelmann, Frank 分享 收藏
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gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study (vol 27, pg 1578, 2019) Moreno-Mendoza, Daniel; Casamonti, Elena; Paoli, Donatella; Chianese, Chiara; Riera-Escamilla, Antoni; Giachini, Claudia; Fino, Maria Grazia; Cioppi, Francesca; Lotti, Francesco; Vinci, Serena; Magini, Angela; Ars, Elisabet; Sanchez-Curbelo, Josvany; Ruiz-Castane, Eduard; Lenzi, Andrea; Lombardo, Francesco; Krausz, Csilla 分享 收藏
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