Hasil Pencarian - Luis A Pérez‐Jurado

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  1. 1
    Co-Treatment With Verapamil and Curcumin Attenuates the Behavioral Alterations Observed in Williams–Beuren Syndrome Mice by Regulation of MAPK Pathway and Microglia Overexpression

    Co-Treatment With Verapamil and Curcumin Attenuates the Behavioral Alterations Observed in Williams–Beuren Syndrome Mice by Regulation of MAPK Pathway and Microglia Overexpression... oleh Paula Ortiz-Romero, Alejandro González-Simón, Gustavo Egea, Gustavo Egea, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Victoria Campuzano, Victoria Campuzano

    Diterbitkan 2021-08-01
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  2. 2
    One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

    One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology oleh Jesús Argente, Julie A Chowen, Luis A Pérez‐Jurado, Jan Frystyk, Claus Oxvig

    Diterbitkan 2017-08-01
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  3. 3
    The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams–Beuren Syndrome Mouse Model

    The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams–Beuren Syndrome Mouse Model oleh Noura Abdalla, Paula Ortiz-Romero, Isaac Rodriguez-Rovira, Luis A. Pérez-Jurado, Gustavo Egea, Victoria Campuzano

    Diterbitkan 2023-02-01
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  4. 4
    Circular DNA intermediates in the generation of large human segmental duplications

    Circular DNA intermediates in the generation of large human segmental duplications oleh Javier U. Chicote, Marcos López-Sánchez, Tomàs Marquès-Bonet, José Callizo, Luis A. Pérez-Jurado, Antonio García-España

    Diterbitkan 2020-08-01
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  5. 5
    Contribution of rare copy number variants to isolated human malformations.

    Contribution of rare copy number variants to isolated human malformations. oleh Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado

    Diterbitkan 2012-01-01
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  6. 6
    A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

    A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding. oleh Susana Granell, Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francisca Díaz, Luis A Pérez-Jurado, Giulia Baldini, Jesús Argente

    Diterbitkan 2012-01-01
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  7. 7
    Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model.

    Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model. oleh Paula Ortiz-Romero, Cristina Borralleras, Mònica Bosch-Morató, Biuse Guivernau, Guillermo Albericio, Francisco J Muñoz, Luis A Pérez-Jurado, Victoria Campuzano

    Diterbitkan 2018-01-01
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  8. 8
    Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

    Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. oleh Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francesc Bou de Pieri, Raquel Flores, Juan R González, Benjamín Rodríguez-Santiago, Jesús Argente, Luis A Pérez-Jurado

    Diterbitkan 2017-05-01
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  9. 9
    Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

    Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. oleh Victoria Campuzano, Maria Segura-Puimedon, Verena Terrado, Carolina Sánchez-Rodríguez, Mathilde Coustets, Mauricio Menacho-Márquez, Julián Nevado, Xosé R Bustelo, Uta Francke, Luis A Pérez-Jurado

    Diterbitkan 2012-02-01
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  10. 10
    Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease

    Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease oleh Vicente Barrios, Julie A. Chowen, Álvaro Martín-Rivada, Santiago Guerra-Cantera, Jesús Pozo, Shoshana Yakar, Ron G. Rosenfeld, Luis A. Pérez-Jurado, Juan Suárez, Jesús Argente

    Diterbitkan 2021-12-01
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  11. 11
    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency oleh Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

    Diterbitkan 2014-03-01
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  12. 12
    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency oleh Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

    Diterbitkan 2020-09-01
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  13. 13
    Response to growth hormone in patients with RNPC3 mutations

    Response to growth hormone in patients with RNPC3 mutations oleh Gabriel Á Martos‐Moreno, Lourdes Travieso‐Suárez, Jesús Pozo‐Román, María T Muñoz‐Calvo, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado, Federico G Hawkins, Jesús Argente

    Diterbitkan 2020-09-01
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  14. 14
    Response to growth hormone in patients with RNPC3 mutations

    Response to growth hormone in patients with RNPC3 mutations oleh Gabriel Á Martos‐Moreno, Lourdes Travieso‐Suárez, Jesús Pozo‐Román, María T Muñoz‐Calvo, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado, Federico G Hawkins, Jesús Argente

    Diterbitkan 2018-07-01
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  15. 15
    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 oleh Luis A. Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, SCOURGE Cohort Group, Juan R. González

    Diterbitkan 2024-02-01
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  16. 16
    Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package oleh Carlos Ruiz-Arenas, Leire Abarrategui, Carles Hernandez-Ferrer, Xavier Escribà-Montagut, Dolors Pelegrí-Sisó, Patricia Ryser-Welch, Martine Vrijheid, Mariona Bustamante, Regina Grazuleviciene, Johanna Lepeule, Mathew Mathai, Marina Vafeiadi, Sergi Beltran, Luis A Pérez-Jurado, Juan R González

    Diterbitkan 2023-12-01
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  17. 17
    Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.

    Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence. oleh Alejandro Cáceres, Tõnu Esko, Irene Pappa, Armand Gutiérrez, Maria-Jose Lopez-Espinosa, Sabrina Llop, Mariona Bustamante, Henning Tiemeier, Andres Metspalu, Peter K Joshi, James F Wilsonx, Judith Reina-Castillón, Jean Shin, Zdenka Pausova, Tomáš Paus, Jordi Sunyer, Luis A Pérez-Jurado, Juan R González

    Diterbitkan 2016-01-01
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  18. 18
    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability oleh Andrew Dauber, María T Muñoz‐Calvo, Vicente Barrios, Horacio M Domené, Soren Kloverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Á Martos‐Moreno, Federico Hawkins, Héctor G Jasper, Cheryl A Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A Chowen, Claus Oxvig, Ron G Rosenfeld, Luis A Pérez‐Jurado, Jesús Argente

    Diterbitkan 2016-02-01
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  19. 19
    The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

    The early-life exposome modulates the effect of polymorphic inversions on DNA methylation oleh Natàlia Carreras-Gallo, Alejandro Cáceres, Laura Balagué-Dobón, Carlos Ruiz-Arenas, Sandra Andrusaityte, Ángel Carracedo, Maribel Casas, Leda Chatzi, Regina Grazuleviciene, Kristine Bjerve Gutzkow, Johanna Lepeule, Léa Maitre, Mark Nieuwenhuijsen, Remy Slama, Nikos Stratakis, Cathrine Thomsen, Jose Urquiza, John Wright, Tiffany Yang, Geòrgia Escaramís, Mariona Bustamante, Martine Vrijheid, Luis A. Pérez-Jurado, Juan R. González

    Diterbitkan 2022-05-01
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  20. 20
    Missense variant contribution to USP9X-female syndrome

    Missense variant contribution to USP9X-female syndrome oleh Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz

    Diterbitkan 2020-12-01
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