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1.

Toward clinical exomes in diagnostics and management of male infertility.

Lillepea, Kristiina; Juchnewitsch, Anna-Grete; Kasak, Laura; Valkna, Anu; Dutta, Avirup; Pomm, Kristjan; Poolamets, Olev; Nagirnaja, Liina; Tamp, Erik; Mahyari, Eisa; Vihljajev, Vladimir; Tjagur, Stanislav; Papadimitriou, Sofia; Riera-Escamilla, Antoni; Versbraegen, Nassim; Farnetani, Ginevra; Castillo-Madeen, Helen; Sütt, Mailis; Kübarsepp, Viljo; Tennisberg, Sven; Korrovits, Paul; Krausz, Csilla; Aston, Kenneth I; Lenaerts, Tom; Conrad, Donald F; Punab, Margus; Laan, Maris.

Am J Hum Genet; 111(5): 877-895, 2024 May 02.

Artículo en Inglés | MEDLINE | ID: mdl-38614076

2.

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; Sánchez-Curbelo, Josvany; Kliesch, Sabine; O'Bryan, Moira K; Ruiz-Castañe, Eduard; Azorín, Fernando; Veltman, Joris A; Aston, Kenneth I; Conrad, Donald F; Tüttelmann, Frank; Krausz, Csilla.

Am J Hum Genet; 109(8): 1458-1471, 2022 08 04.

Artículo en Inglés | MEDLINE | ID: mdl-35809576

3.

Severe sperm DNA fragmentation may persist for up to 3 years after cytotoxic therapy in patients affected by Hodgkin lymphoma and non-Hodgkin lymphoma.

Farnetani, Ginevra; Vannucci, Matteo; Fino, Maria Grazia; Cioppi, Francesca; Rosta, Viktoria; Palma, Manuela; Tamburrino, Lara; Vinci, Serena; Casamonti, Elena; Degl'Innocenti, Selene; Spinelli, Matilde; Abrardo, Chiara; Marchiani, Sara; Lotti, Francesco; Muratori, Monica; Riera-Escamilla, Antoni; Krausz, Csilla.

Hum Reprod; 39(3): 496-503, 2024 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-38177083

4.

DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice.

Houston, Brendan J; Lopes, Alexandra M; Laan, Maris; Nagirnaja, Liina; O'Connor, Anne E; Merriner, D Jo; Nguyen, Joseph; Punab, Margus; Riera-Escamilla, Antoni; Krausz, Csilla; Aston, Kenneth Ivan; Conrad, Donald F; O'Bryan, Moira K.

Dev Biol; 490: 66-72, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35850260

5.

The X chromosome and male infertility.

Vockel, Matthias; Riera-Escamilla, Antoni; Tüttelmann, Frank; Krausz, Csilla.

Hum Genet; 140(1): 203-215, 2021 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-31875237

6.

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-Castañé, Eduard; Aston, Kenneth I; Baarends, Willy M; Tüttelmann, Frank.

Genet Med; 22(12): 1956-1966, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32741963

7.

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.

Krausz, Csilla; Riera-Escamilla, Antoni; Chianese, Chiara; Moreno-Mendoza, Daniel; Ars, Elisabet; Rajmil, Osvaldo; Pujol, Roser; Bogliolo, Massimo; Blanco, Ignacio; Rodríguez, Ines; Badell, Isabel; Ruiz-Castañé, Eduard; Surrallés, Jordi.

Genet Med; 21(1): 189-194, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-29904161

8.

Undiagnosed RASopathies in infertile men.

Juchnewitsch, Anna-Grete; Pomm, Kristjan; Dutta, Avirup; Tamp, Erik; Valkna, Anu; Lillepea, Kristiina; Mahyari, Eisa; Tjagur, Stanislav; Belova, Galina; Kübarsepp, Viljo; Castillo-Madeen, Helen; Riera-Escamilla, Antoni; Põlluaas, Lisanna; Nagirnaja, Liina; Poolamets, Olev; Vihljajev, Vladimir; Sütt, Mailis; Versbraegen, Nassim; Papadimitriou, Sofia; McLachlan, Robert I; Jarvi, Keith A; Schlegel, Peter N; Tennisberg, Sven; Korrovits, Paul; Vigh-Conrad, Katinka; O'Bryan, Moira K; Aston, Kenneth I; Lenaerts, Tom; Conrad, Donald F; Kasak, Laura; Punab, Margus; Laan, Maris.

Front Endocrinol (Lausanne); 15: 1312357, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38654924

9.

Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer.

Chan, Donovan; Oros Klein, Kathleen; Riera-Escamilla, Antoni; Krausz, Csilla; O'Flaherty, Cristian; Chan, Peter; Robaire, Bernard; Trasler, Jacquetta M.

Clin Epigenetics; 15(1): 5, 2023 01 07.

Artículo en Inglés | MEDLINE | ID: mdl-36611168

10.

Long-term effect of cytotoxic treatments on sperm DNA fragmentation in patients affected by testicular germ cell tumor.

Farnetani, Ginevra; Fino, Maria Grazia; Cioppi, Francesca; Riera-Escamilla, Antoni; Tamburrino, Lara; Vannucci, Matteo; Rosta, Viktoria; Vinci, Serena; Casamonti, Elena; Turki, Leila; Degl'Innocenti, Selene; Spinelli, Matilde; Marchiani, Sara; Lotti, Francesco; Muratori, Monica; Krausz, Csilla.

Andrology; 11(8): 1653-1661, 2023 11.

Artículo en Inglés | MEDLINE | ID: mdl-36932666

11.

Diverse monogenic subforms of human spermatogenic failure.

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; Gonçalves, João; Gurnett, Christina A; Jørgensen, Niels; Jezek, Davor; Jungheim, Emily S; Kliesch, Sabine; McLachlan, Robert I; Omurtag, Kenan R; Pilatz, Adrian; Sandlow, Jay I; 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; Tüttelmann, Frank; Veltman, Joris A; Almstrup, Kristian; Aston, Kenneth I; Conrad, Donald F.

Nat Commun; 13(1): 7953, 2022 12 26.

Artículo en Inglés | MEDLINE | ID: mdl-36572685

12.

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.

Capalbo, Antonio; Poli, Maurizio; Riera-Escamilla, Antoni; Shukla, Vallari; Kudo Høffding, Miya; Krausz, Csilla; Hoffmann, Eva R; Simon, Carlos.

Hum Reprod Update; 27(2): 254-279, 2021 02 19.

Artículo en Inglés | MEDLINE | ID: mdl-33197264

13.

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; Riera-Escamilla, Antoni; Wyrwoll, Margot J; Salas-Huetos, Albert; Xavier, Miguel J; Nagirnaja, Liina; Friedrich, Corinna; Conrad, Don F; Aston, Kenneth I; Krausz, Csilla; Tüttelmann, Frank; O'Bryan, Moira K; Veltman, Joris A; Oud, Manon S.

Hum Reprod Update; 28(1): 15-29, 2021 12 21.

Artículo en Inglés | MEDLINE | ID: mdl-34498060

14.

Short anogenital distance is associated with testicular germ cell tumour development.

Moreno-Mendoza, Daniel; Casamonti, Elena; Riera-Escamilla, Antoni; Pietroforte, Sara; Corona, Giovanni; Ruiz-Castañe, Eduardo; Krausz, Csilla.

Andrology; 8(6): 1770-1778, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-32683775

15.

Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study.

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.

Eur J Hum Genet; 28(10): 1476, 2020 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-32788662

16.

Monogenic Forms of Male Infertility.

Krausz, Csilla; Riera-Escamilla, Antoni.

Exp Suppl; 111: 341-366, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31588539

17.

Design, optimization and validation of genes commonly used in expression studies on DMH/AOM rat colon carcinogenesis model.

Bars-Cortina, David; Riera-Escamilla, Antoni; Gou, Gemma; Piñol-Felis, Carme; Motilva, María-José.

PeerJ; 7: e6372, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-30713822

18.

gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study.

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.

Eur J Hum Genet; 27(10): 1578-1588, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31053779

19.

Testing for genetic contributions to infertility: potential clinical impact.

Krausz, Csilla; Cioppi, Francesca; Riera-Escamilla, Antoni.

Expert Rev Mol Diagn; 18(4): 331-346, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29540081

20.

Genetics of male infertility.