Five patients with disorders of calcium metabolism presented with GCM2 gene variants

por Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Publicado 2021

Accurate identification of ALK positive lung carcinoma patients: novel FDA-cleared automated fluorescence in situ hybridization scanning system and ultrasensitive immunohistochemis...

por Esther Conde, Ana Suárez-Gauthier, Amparo Benito, Pilar Garrido, Rosario García-Campelo, Michele Biscuola, Luis Paz-Ares, David Hardisson, Javier de Castro, M Carmen Camacho, Delvys Rodriguez-Abreu, Ihab Abdulkader, Josep Ramirez, Noemí Reguart, Marta Salido, Lara Pijuán, Edurne Arriola, Julián Sanz, Victoria Folgueras, Noemí Villanueva, Javier Gómez-Román, Manuel Hidalgo, Fernando López-Ríos
Publicado 2014

Sacubitril-Valsartan, Clinical Benefits and Related Mechanisms of Action in Heart Failure With Reduced Ejection Fraction. A Review

por Domingo Pascual-Figal, Domingo Pascual-Figal, Antoni Bayés-Genis, Antoni Bayés-Genis, Antoni Bayés-Genis, Paola Beltrán-Troncoso, Pedro Caravaca-Pérez, Pedro Caravaca-Pérez, Pedro Caravaca-Pérez, Alicia Conde-Martel, Maria G. Crespo-Leiro, Maria G. Crespo-Leiro, Juan F. Delgado, Juan F. Delgado, Juan F. Delgado, Javier Díez, Javier Díez, Javier Díez, Javier Díez, Francesc Formiga, Nicolás Manito
Publicado 2021

Zebrafish as a model to study inflammation: A tool for drug discovery

por Marco A.A. Belo, Melque F. Oliveira, Susana L. Oliveira, Mayumi F. Aracati, Letícia F. Rodrigues, Camila C. Costa, Gabriel Conde, Juliana M.M. Gomes, Mariana N.L. Prata, Ayslan Barra, Thalita M. Valverde, Daniela C. de Melo, Silas F. Eto, Dayanne C. Fernandes, Marina G.M.C. Romero, José D. Corrêa Júnior, Juliana O. Silva, Andre L.B. Barros, Andrea C. Perez, Ives Charlie-Silva
Publicado 2021

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.

por Luis M Real, Agustín Ruiz, Javier Gayán, Antonio González-Pérez, María E Sáez, Reposo Ramírez-Lorca, Francisco J Morón, Juan Velasco, Ruth Marginet-Flinch, Eva Musulén, José M Carrasco, Concha Moreno-Rey, Enrique Vázquez, Manuel Chaves-Conde, Jose A Moreno-Nogueira, Manuel Hidalgo-Pascual, Eduardo Ferrero-Herrero, Sergi Castellví-Bel, Antoni Castells, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Angel Carracedo, Beatriz González, Sergio Alonso, Manuel Perucho
Publicado 2014

Rasmussen syndrome in a tropical environment: a study of six (6) observations

por Carlos Othon Guelngar, Touré Mohamed Lamine, Barry Mamadou Ciré, Diakité Mamady, Konaté Mahadi, Djibo Hamani Bachir Abdoul, Sakadi Foksouna, Djibo Hassane Fatimata, Camara Naby, Kassa Dago François, Bah Fatimatou Korka, Camara Doussou, Millimono Victorine, Condé Salematou, Sakho Aminata, Diallo Mohamed Tafsir, Barry Souleymane Djigué, Diallo Mamadou Saliou, Soumah Fodé Mohamed, Sanni Yaya Aminou, Douna Granga Daouya, Rafkat Said Abdallah, Konaté Mamady, Diallo Souleymane Mbara, Cissé Fodé Abass, Cissé Amara
Publicado 2021

Compound Endoscopic Morphological Features for Identifying Non-Pedunculated Lesions ≥20 mm with Intramucosal Neoplasia

por João Pedro da Costa-Seixas, María López-Cerón, Anna Arnau, Òria Rosiñol, Miriam Cuatrecasas, Alberto Herreros-de-Tejada, Ángel Ferrández, Miquel Serra-Burriel, Óscar Nogales, Luisa de Castro, Jorge López-Vicente, Pablo Vega, Marco A. Álvarez-González, Jesús M. González-Santiago, Marta Hernández-Conde, Pilar Diez-Redondo, Liseth Rivero-Sánchez, Antonio Z. Gimeno-García, Aurora Burgos, Francisco Javier García-Alonso, Marco Bustamante-Balén, Eva Martínez-Bauer, Beatriz Peñas, Daniel Rodríguez-Alcalde, Maria Pellisé, Ignasi Puig
Publicado 2021

The copy number variation and stroke (CaNVAS) risk and outcome study.

por John W Cole, Taiwo Adigun, Rufus Akinyemi, Onoja Matthew Akpa, Steven Bell, Bowang Chen, Jordi Jimenez Conde, Uxue Lazcano Dobao, Israel Fernandez, Myriam Fornage, Cristina Gallego-Fabrega, Christina Jern, Michael Krawczak, Arne Lindgren, Hugh S Markus, Olle Melander, Mayowa Owolabi, Kristina Schlicht, Martin Söderholm, Vinodh Srinivasasainagendra, Carolina Soriano Tárraga, Martin Stenman, Hemant Tiwari, Margaret Corasaniti, Natalie Fecteau, Beth Guizzardi, Haley Lopez, Kevin Nguyen, Brady Gaynor, Timothy O'Connor, O Colin Stine, Steven J Kittner, Patrick McArdle, Braxton D Mitchell, Huichun Xu, Caspar Grond-Ginsbach
Publicado 2021

The long lives of primates and the ‘invariant rate of ageing’ hypothesis

por Fernando Colchero, José Manuel Aburto, Elizabeth A. Archie, Christophe Boesch, Thomas Breuer, Fernando A. Campos, Anthony Collins, Dalia A. Conde, Marina Cords, Catherine Crockford, Melissa Emery Thompson, Linda M. Fedigan, Claudia Fichtel, Milou Groenenberg, Catherine Hobaiter, Peter M. Kappeler, Richard R. Lawler, Rebecca J. Lewis, Zarin P. Machanda, Marie L. Manguette, Martin N. Muller, Craig Packer, Richard J. Parnell, Susan Perry, Anne E. Pusey, Martha M. Robbins, Robert M. Seyfarth, Joan B. Silk, Johanna Staerk, Tara S. Stoinski, Emma J. Stokes, Karen B. Strier, Shirley C. Strum, Jenny Tung, Francisco Villavicencio, Roman M. Wittig, Richard W. Wrangham, Klaus Zuberbühler, James W. Vaupel, Susan C. Alberts
Publicado 2021

Outcome after acute ischemic stroke is linked to sex-specific lesion patterns

por Anna K. Bonkhoff, Markus D. Schirmer, Martin Bretzner, Sungmin Hong, Robert W. Regenhardt, Mikael Brudfors, Kathleen L. Donahue, Marco J. Nardin, Adrian V. Dalca, Anne-Katrin Giese, Mark R. Etherton, Brandon L. Hancock, Steven J. T. Mocking, Elissa C. McIntosh, John Attia, Oscar R. Benavente, Stephen Bevan, John W. Cole, Amanda Donatti, Christoph J. Griessenauer, Laura Heitsch, Lukas Holmegaard, Katarina Jood, Jordi Jimenez-Conde, Steven J. Kittner, Robin Lemmens, Christopher R. Levi, Caitrin W. McDonough, James F. Meschia, Chia-Ling Phuah, Arndt Rolfs, Stefan Ropele, Jonathan Rosand, Jaume Roquer, Tatjana Rundek, Ralph L. Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Martin Söderholm, Alessandro Sousa, Tara M. Stanne, Daniel Strbian, Turgut Tatlisumak, Vincent Thijs, Achala Vagal, Johan Wasselius, Daniel Woo, Ramin Zand, Patrick F. McArdle, Bradford B. Worrall, Christina Jern, Arne G. Lindgren, Jane Maguire, Danilo Bzdok, Ona Wu, MRI-GENIE and GISCOME Investigators and the International Stroke Genetics Consortium, Natalia S. Rost
Publicado 2021

Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia

por Mary L. McMaster, Sonja I. Berndt, Jianqing Zhang, Susan L. Slager, Shengchao Alfred Li, Claire M. Vajdic, Karin E. Smedby, Huihuang Yan, Brenda M. Birmann, Elizabeth E. Brown, Alex Smith, Geffen Kleinstern, Mervin M. Fansler, Christine Mayr, Bin Zhu, Charles C. Chung, Ju-Hyun Park, Laurie Burdette, Belynda D. Hicks, Amy Hutchinson, Lauren R. Teras, Hans-Olov Adami, Paige M. Bracci, James McKay, Alain Monnereau, Brian K. Link, Roel C. H. Vermeulen, Stephen M. Ansell, Ann Maria, W. Ryan Diver, Mads Melbye, Akinyemi I. Ojesina, Peter Kraft, Paolo Boffetta, Jacqueline Clavel, Edward Giovannucci, Caroline M. Besson, Federico Canzian, Ruth C. Travis, Paolo Vineis, Elisabete Weiderpass, Rebecca Montalvan, Zhaoming Wang, Meredith Yeager, Nikolaus Becker, Yolanda Benavente, Paul Brennan, Lenka Foretova, Marc Maynadie, Alexandra Nieters, Silvia de Sanjose, Anthony Staines, Lucia Conde, Jacques Riby, Bengt Glimelius, Henrik Hjalgrim, Nisha Pradhan, Andrew L. Feldman, Anne J. Novak, Charles Lawrence, Bryan A. Bassig, Qing Lan, Tongzhang Zheng, Kari E. North, Lesley F. Tinker, Wendy Cozen, Richard K. Severson, Jonathan N. Hofmann, Yawei Zhang, Rebecca D. Jackson, Lindsay M. Morton, Mark P. Purdue, Nilanjan Chatterjee, Kenneth Offit, James R. Cerhan, Stephen J. Chanock, Nathaniel Rothman, Joseph Vijai, Lynn R. Goldin, Christine F. Skibola, Neil E. Caporaso
Publicado 2018

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

por Edith Hofer, Gennady V. Roshchupkin, Hieab H. H. Adams, Maria J. Knol, Honghuang Lin, Shuo Li, Habil Zare, Shahzad Ahmad, Nicola J. Armstrong, Claudia L. Satizabal, Manon Bernard, Joshua C. Bis, Nathan A. Gillespie, Michelle Luciano, Aniket Mishra, Markus Scholz, Alexander Teumer, Rui Xia, Xueqiu Jian, Thomas H. Mosley, Yasaman Saba, Lukas Pirpamer, Stephan Seiler, James T. Becker, Owen Carmichael, Jerome I. Rotter, Bruce M. Psaty, Oscar L. Lopez, Najaf Amin, Sven J. van der Lee, Qiong Yang, Jayandra J. Himali, Pauline Maillard, Alexa S. Beiser, Charles DeCarli, Sherif Karama, Lindsay Lewis, Mat Harris, Mark E. Bastin, Ian J. Deary, A. Veronica Witte, Frauke Beyer, Markus Loeffler, Karen A. Mather, Peter R. Schofield, Anbupalam Thalamuthu, John B. Kwok, Margaret J. Wright, David Ames, Julian Trollor, Jiyang Jiang, Henry Brodaty, Wei Wen, Meike W. Vernooij, Albert Hofman, André G. Uitterlinden, Wiro J. Niessen, Katharina Wittfeld, Robin Bülow, Uwe Völker, Zdenka Pausova, G. Bruce Pike, Sophie Maingault, Fabrice Crivello, Christophe Tzourio, Philippe Amouyel, Bernard Mazoyer, Michael C. Neale, Carol E. Franz, Michael J. Lyons, Matthew S. Panizzon, Ole A. Andreassen, Anders M. Dale, Mark Logue, Katrina L. Grasby, Neda Jahanshad, Jodie N. Painter, Lucía Colodro-Conde, Janita Bralten, Derrek P. Hibar, Penelope A. Lind, Fabrizio Pizzagalli, Jason L. Stein, Paul M. Thompson, Sarah E. Medland, ENIGMA consortium, Perminder S. Sachdev, William S. Kremen, Joanna M. Wardlaw, Arno Villringer, Cornelia M. van Duijn, Hans J. Grabe, William T. Longstreth, Myriam Fornage, Tomas Paus, Stephanie Debette, M. Arfan Ikram, Helena Schmidt, Reinhold Schmidt, Sudha Seshadri
Publicado 2020

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

por Philip J. Law, Sonja I. Berndt, Helen E. Speedy, Nicola J. Camp, Georgina P. Sava, Christine F. Skibola, Amy Holroyd, Vijai Joseph, Nicola J. Sunter, Alexandra Nieters, Silvia Bea, Alain Monnereau, David Martin-Garcia, Lynn R. Goldin, Guillem Clot, Lauren R. Teras, Inés Quintela, Brenda M. Birmann, Sandrine Jayne, Wendy Cozen, Aneela Majid, Karin E. Smedby, Qing Lan, Claire Dearden, Angela R. Brooks-Wilson, Andrew G. Hall, Mark P. Purdue, Tryfonia Mainou-Fowler, Claire M. Vajdic, Graham H. Jackson, Pierluigi Cocco, Helen Marr, Yawei Zhang, Tongzhang Zheng, Graham G. Giles, Charles Lawrence, Timothy G. Call, Mark Liebow, Mads Melbye, Bengt Glimelius, Larry Mansouri, Martha Glenn, Karen Curtin, W Ryan Diver, Brian K. Link, Lucia Conde, Paige M. Bracci, Elizabeth A. Holly, Rebecca D. Jackson, Lesley F. Tinker, Yolanda Benavente, Paolo Boffetta, Paul Brennan, Marc Maynadie, James McKay, Demetrius Albanes, Stephanie Weinstein, Zhaoming Wang, Neil E. Caporaso, Lindsay M. Morton, Richard K. Severson, Elio Riboli, Paolo Vineis, Roel C. H. Vermeulen, Melissa C. Southey, Roger L. Milne, Jacqueline Clavel, Sabine Topka, John J. Spinelli, Peter Kraft, Maria Grazia Ennas, Geoffrey Summerfield, Giovanni M. Ferri, Robert J. Harris, Lucia Miligi, Andrew R. Pettitt, Kari E. North, David J. Allsup, Joseph F. Fraumeni, James R. Bailey, Kenneth Offit, Guy Pratt, Henrik Hjalgrim, Chris Pepper, Stephen J. Chanock, Chris Fegan, Richard Rosenquist, Silvia de Sanjose, Angel Carracedo, Martin J. S. Dyer, Daniel Catovsky, Elias Campo, James R. Cerhan, James M. Allan, Nathanial Rothman, Richard Houlston, Susan Slager
Publicado 2017

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

por Sonja I. Berndt, Nicola J. Camp, Christine F. Skibola, Joseph Vijai, Zhaoming Wang, Jian Gu, Alexandra Nieters, Rachel S. Kelly, Karin E. Smedby, Alain Monnereau, Wendy Cozen, Angela Cox, Sophia S. Wang, Qing Lan, Lauren R. Teras, Moara Machado, Meredith Yeager, Angela R. Brooks-Wilson, Patricia Hartge, Mark P. Purdue, Brenda M. Birmann, Claire M. Vajdic, Pierluigi Cocco, Yawei Zhang, Graham G. Giles, Anne Zeleniuch-Jacquotte, Charles Lawrence, Rebecca Montalvan, Laurie Burdett, Amy Hutchinson, Yuanqing Ye, Timothy G. Call, Tait D. Shanafelt, Anne J. Novak, Neil E. Kay, Mark Liebow, Julie M. Cunningham, Cristine Allmer, Henrik Hjalgrim, Hans-Olov Adami, Mads Melbye, Bengt Glimelius, Ellen T. Chang, Martha Glenn, Karen Curtin, Lisa A. Cannon-Albright, W Ryan Diver, Brian K. Link, George J. Weiner, Lucia Conde, Paige M. Bracci, Jacques Riby, Donna K. Arnett, Degui Zhi, Justin M. Leach, Elizabeth A. Holly, Rebecca D. Jackson, Lesley F. Tinker, Yolanda Benavente, Núria Sala, Delphine Casabonne, Nikolaus Becker, Paolo Boffetta, Paul Brennan, Lenka Foretova, Marc Maynadie, James McKay, Anthony Staines, Kari G. Chaffee, Sara J. Achenbach, Celine M. Vachon, Lynn R. Goldin, Sara S. Strom, Jose F. Leis, J. Brice Weinberg, Neil E. Caporaso, Aaron D. Norman, Anneclaire J. De Roos, Lindsay M. Morton, Richard K. Severson, Elio Riboli, Paolo Vineis, Rudolph Kaaks, Giovanna Masala, Elisabete Weiderpass, María- Dolores Chirlaque, Roel C. H. Vermeulen, Ruth C. Travis, Melissa C. Southey, Roger L. Milne, Demetrius Albanes, Jarmo Virtamo, Stephanie Weinstein, Jacqueline Clavel, Tongzhang Zheng, Theodore R. Holford, Danylo J. Villano, Ann Maria, John J. Spinelli, Randy D. Gascoyne, Joseph M. Connors, Kimberly A. Bertrand, Edward Giovannucci, Peter Kraft, Anne Kricker, Jenny Turner, Maria Grazia Ennas, Giovanni M. Ferri, Lucia Miligi, Liming Liang, Baoshan Ma, Jinyan Huang, Simon Crouch, Ju-Hyun Park, Nilanjan Chatterjee, Kari E. North, John A. Snowden, Josh Wright, Joseph F. Fraumeni, Kenneth Offit, Xifeng Wu, Silvia de Sanjose, James R. Cerhan, Stephen J. Chanock, Nathaniel Rothman, Susan L. Slager
Publicado 2016

Optimal management of pediatric keratoconus: challenges and solutions

por Olivo-Payne A, Abdala-Figuerola A, Hernandez-Bogantes E, Pedro-Aguilar L, Chan E, Godefrooij D
Publicado 2019