New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

por García-Aznar, José María, De la Higuera, Luis, Besada Cerecedo, Lara, Gandiaga, Nerea Paz, Vega, Ana Isabel, Fernández-Fresnedo, Gema, González-Lamuño, Domingo
Publicado 2022

Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine

por Díaz-Alberola, Irene, Espuch-Oliver, Andrea, García-Aznar, José María, Ganoza-Gallardo, Christian, Aguilera-Franco, María, Sampedro, Antonio, Jiménez, Pilar, López-Nevot, Miguel Ángel
Publicado 2022

Incidence, Management Experience and Characteristics of Patients with Giardiasis and Common Variable Immunodeficiency

por Díaz-Alberola, Irene, Gutiérrez-Bautista, Juan Francisco, Espuch-Oliver, Andrea, García-Aznar, José María, Anderson, Per, Jiménez, Pilar, Hidalgo-Tenorio, Carmen, López-Nevot, Miguel Ángel
Publicado 2022

Novel frameshift variants expand the map of the genetic defects in IRF2BP2

por García-Aznar, José María, Maneiro Pampín, Emilia, García Ramos, Maite, Acuña Pérez, María José, Paz Gandiaga, Nerea, Minguell Domingo, Laura, Calavia, Olga, Soler-Palacin, Pere, Colobran, Roger, Novoa Bolívar, Erika M., Ocejo Vinyals, Javier Gonzalo
Publicado 2023

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

por Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami
Publicado 2017