Carlos Ignacio Ortez Gonzalez
Investigador
Research group
SJD Barcelona Children's Hospital Last Publications
- Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.
- López-Márquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldán M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): .
- Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases. FRONTIERS IN NEUROSCIENCE . 16: 784880-784880.
Projects
- Project name:
- Cohort of Spanish Patients with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
- Leader
- Carlos Ignacio Ortez Gonzalez
- Funding entities:
- PTC Therapeutics International Limited
- Code
- PCP00337
- Starting - finishing date:
- 2022 - 2024
- Project name:
- Early Diagnosis of Dystrophinopathy in Patients under 36 Months of Age Attending Neurodevelopment Primary Care Centers in Barcelona-Spain
- Leader
- Carlos Ignacio Ortez Gonzalez
- Funding entities:
- PTC Therapeutics International Limited
- Code
- PCP00272
- Starting - finishing date:
- 2020 - 2022