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

Get full text

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

Get full text

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

Get full text

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

Get full text

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. by Susana Granell, Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francisca Díaz, Luis A Pérez-Jurado, Giulia Baldini, Jesús Argente

Get full text

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

Get full text

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. by 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

Get full text

Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease by 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

Get full text

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency by 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

Get full text

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency by 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

Get full text

Response to growth hormone in patients with RNPC3 mutations by 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

Get full text

Response to growth hormone in patients with RNPC3 mutations by 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

Get full text

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 by 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

Get full text

Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package by 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

Get full text

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence. by 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

Get full text

Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability by 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

Get full text

The early-life exposome modulates the effect of polymorphic inversions on DNA methylation by 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

Get full text

Missense variant contribution to USP9X-female syndrome by 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

Get full text

Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina

Get full text

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization by Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol

Get full text