RIERA ESCAMILLA, ANTONI
RIERA ESCAMILLA, ANTONI
Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships
2021 Houston BJ, Riera Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS.
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia
2015 Chianese, C; Fino, M G; Riera Escamilla, A; López Rodrigo, O; Vinci, S; Guarducci, E; Daguin, F; Muratori, M; Tamburrino, L; Lo Giacco, D; Ars, E; Bassas, L; Costa, M; Pisatauro, V; Noci, I; Coccia, E; Provenzano, A; Ruiz-Castañé, E; Giglio, S; Piomboni, P; Krausz, C
Evaluation of sperm DNA quality in men presenting with testicular cancer and lymphoma using alkaline and neutral Comet assays
2018 Kumar, K.*; Lewis, S.; Vinci, S.; Riera-Escamilla, A.; Fino, M.-G.; Tamburrino, L.; Muratori, M.; Larsen, P.; Krausz, C.
Exome sequencing data management and variant filtering in azoospermic and testicular germ cell tumor patients
2023 Giuseppe Defazio; Ginevra Farnetani; Antoni Riera; Csilla Gabriella Krausz
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
2019 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
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
2020 Krausz C, Riera Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F.
Genetic investigation in non-obstructive azoospermia: from the X chromosome to the whole exome
2017 antoni riera escamilla
Genetics of male infertility
2018 Krausz, Csilla; Riera-Escamilla, Antoni
Genetics of male infertility: from research to clinic
2015 Krausz, Csilla; Escamilla, Antoni Riera; Chianese, Chiara
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature
2018 Cioppi, F; Riera-Escamilla, A; Manilall, A; Guarducci, E; Todisco, T; Corona, G; Colombo, F; Bonomi, M; Flanagan, C A; Krausz, C
gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study
2019 Moreno-Mendoza D.; Casamonti E.; Paoli D.; Chianese C.; Riera-Escamilla A.; Giachini C.; Fino M.G.; Cioppi F.; Lotti F.; Vinci S.; Magini A.; Ars E.; Sanchez-Curbelo J.; Ruiz-Castane E.; Lenzi A.; Lombardo F.; Krausz C.
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure
2022 Riera Escamilla A.; Vockel M.; Nagirnaja L.; Xavier M.J.; Carbonell A.; Moreno-Mendoza D.; Pybus M.; Farnetani G.; Rosta V.; Cioppi F.; Friedrich C.; Oud M.S.; van der Heijden G.W.; Soave A.; Diemer T.; Ars E.; Sanchez-Curbelo J.; Kliesch S.; O'Bryan M.K.; Ruiz-Castane E.; Azorin F.; Veltman J.A.; Aston K.I.; Conrad D.F.; Tuttelmann F.; Krausz C.
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
2019 Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C.
Severe sperm DNA fragmentation may persist for up to 3 years after cytotoxic therapy in patients affected by Hodgkin lymphoma and non-Hodgkin lymphoma
2024 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
Toward clinical exomes in diagnostics and management of male infertility
2024 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships | 2021 | Houston BJ, Riera Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. | |
| Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia | 2015 | Chianese, C; Fino, M G; Riera Escamilla, A; López Rodrigo, O; Vinci, S; Guarducci, E; Daguin, F; Muratori, M; Tamburrino, L; Lo Giacco, D; Ars, E; Bassas, L; Costa, M; Pisatauro, V; Noci, I; Coccia, E; Provenzano, A; Ruiz-Castañé, E; Giglio, S; Piomboni, P; Krausz, C | |
| Evaluation of sperm DNA quality in men presenting with testicular cancer and lymphoma using alkaline and neutral Comet assays | 2018 | Kumar, K.*; Lewis, S.; Vinci, S.; Riera-Escamilla, A.; Fino, M.-G.; Tamburrino, L.; Muratori, M.; Larsen, P.; Krausz, C. | |
| Exome sequencing data management and variant filtering in azoospermic and testicular germ cell tumor patients | 2023 | Giuseppe Defazio; Ginevra Farnetani; Antoni Riera; Csilla Gabriella Krausz | |
| From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia | 2019 | 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 | |
| Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. | 2020 | Krausz C, Riera Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F. | |
| Genetic investigation in non-obstructive azoospermia: from the X chromosome to the whole exome | 2017 | antoni riera escamilla | |
| Genetics of male infertility | 2018 | Krausz, Csilla; Riera-Escamilla, Antoni | |
| Genetics of male infertility: from research to clinic | 2015 | Krausz, Csilla; Escamilla, Antoni Riera; Chianese, Chiara | |
| Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature | 2018 | Cioppi, F; Riera-Escamilla, A; Manilall, A; Guarducci, E; Todisco, T; Corona, G; Colombo, F; Bonomi, M; Flanagan, C A; Krausz, C | |
| gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study | 2019 | Moreno-Mendoza D.; Casamonti E.; Paoli D.; Chianese C.; Riera-Escamilla A.; Giachini C.; Fino M.G.; Cioppi F.; Lotti F.; Vinci S.; Magini A.; Ars E.; Sanchez-Curbelo J.; Ruiz-Castane E.; Lenzi A.; Lombardo F.; Krausz C. | |
| Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure | 2022 | Riera Escamilla A.; Vockel M.; Nagirnaja L.; Xavier M.J.; Carbonell A.; Moreno-Mendoza D.; Pybus M.; Farnetani G.; Rosta V.; Cioppi F.; Friedrich C.; Oud M.S.; van der Heijden G.W.; Soave A.; Diemer T.; Ars E.; Sanchez-Curbelo J.; Kliesch S.; O'Bryan M.K.; Ruiz-Castane E.; Azorin F.; Veltman J.A.; Aston K.I.; Conrad D.F.; Tuttelmann F.; Krausz C. | |
| Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. | 2019 | Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. | |
| Severe sperm DNA fragmentation may persist for up to 3 years after cytotoxic therapy in patients affected by Hodgkin lymphoma and non-Hodgkin lymphoma | 2024 | 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 | |
| Toward clinical exomes in diagnostics and management of male infertility | 2024 | 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 |