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TITLE: Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
AUTHORS: 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.; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef Unpaywall
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TITLE: Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2022, SOURCE: ANDROLOGY, VOLUME: 10, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 4 Unpaywall
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TITLE: KATNAL1 polymorphisms confer susceptibility to severe phenotypes of male infertility in a large European cohort
AUTHORS: Guzman Jimenez, A.; Cervan Martin, M.; Bossini Castillo, L.; Garrido, N.; Lujan, S.; Castilla, J. A.; Azoonomic, S. G.; Marques, P. I.; Carvalho, F.; Goncalves, J.; Larriba, S.; Lopes, A. M.; Palomino Morales, R. J.; Carmona, F. D.;
PUBLISHED: 2022, SOURCE: HUMAN REPRODUCTION, VOLUME: 37
INDEXED IN: WOS
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TITLE: Common variation in the PIN1 locus increases the genetic risk to suffer from Sertoli Cell Only syndrome
AUTHORS: Cervan Martin, M.; Gonzalez Munoz, S.; Bossini Castillo, L.; Guzman Jime'nez, A.; Garrido, N.; Lujan, S.; Clavero, A.; Azoonomic, S. G.; Barros, A.; Seixas, S.; Goncalves, J.; Larriba, S.; Lopes, A. M.; Carmona, F. D.; Palomino Morales, R. J.;
PUBLISHED: 2022, SOURCE: HUMAN REPRODUCTION, VOLUME: 37
INDEXED IN: WOS
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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
INDEXED IN: Scopus WOS CrossRef: 2 Unpaywall
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TITLE: Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
AUTHORS: Guzmán Jiménez, A; González Muñoz, S; Cerván Martín, M; Rivera Egea, R; Garrido, N; Luján, S; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Maldonado, V; Villegas Salmerón, J; Burgos, M; Jiménez, R; Pinto, MG; Pereira, I; Nunes, J; Sánchez Curbelo, J; López Rodrigo, O; Pereira Caetano, I; Marques, PI; Carvalho, F ; Barros, A ; Bassas, L; Seixas, S; Gonçalves, J; Lopes, AM ; Larriba, S; Palomino Morales, RJ; Carmona, FD; Bossini Castillo, L; Group IVIRMA; Clinical Group Lisbon; ...More
PUBLISHED: 2022, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 10
INDEXED IN: Scopus WOS CrossRef: 1 Unpaywall
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TITLE: Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort  Full Text
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MD; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; Carvalho, F ; Barros, A ; Bassas, L; Seixas, S; Goncalves, J; Larriba, S; Lopes, AM ; Carmona, FD; Palomino Morales, RJ; ...More
PUBLISHED: 2021, SOURCE: ANDROLOGY, VOLUME: 9, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 12
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TITLE: Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis  Full Text
AUTHORS: Laia Masvidal; Susana Igreja; Maria D Ramos; Antoni Alvarez; Javier de Gracia; Anabela Ramalho ; Margarida D Amaral ; Sara Larriba; Teresa Casals;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Epigenetic loss of the PIWI/piRNA machinery in human testicular tumorigenesis
AUTHORS: Humberto J Ferreira; Holger Heyn; Xavier G Garcia del Muro; August Vidal; Sara Larriba; Clara Munoz; Alberto Villanueva; Manel Esteller;
PUBLISHED: 2014, SOURCE: EPIGENETICS, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Epigenetic Disruption of the PIWI Pathway in Human Spermatogenic Disorders  Full Text
AUTHORS: Holger Heyn; Humberto J Ferreira; Lluis Bassas; Sandra Bonache; Sergi Sayols; Juan Sandoval; Manel Esteller; Sara Larriba;
PUBLISHED: 2012, SOURCE: PLOS ONE, VOLUME: 7, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef