Portal de investigación
Caracterización clínica de los resultados ómicos: reanálisis, nuevos fenotiposaléicos y nuevos genes patológicos.
Datos básicos
- Protocolo:
- PI22/00272
- EUDRACT:
- NCT:
- Centro:
- Año de incio:
- 2023
- Año de finalización:
- 2025
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies
Gabaldon-Albero, Alba, Mayo, Sonia, Martinez, Francisco
Review. 10.3390/ijms25105198. 2024
A microRNA signature for valproate-induced steatosis in human hepatocytes and its application to predict fatty liver in paediatric epileptic patients on valproate therapy.
Soluyanova P; (...); Jover R
Article. 10.1016/j.tox.2024.153974. 2024
Aicardi-Goutieres syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
Gabaldon-Albero, Alba; (...); Martinez, Francisco
Article. 10.1186/s12969-024-01036-5. 2024
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Trujillano, Laura; (...); Tizzano, Eduardo F
Article. 10.1111/cge.14701. 2025
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome
Martin-Grau, Carla; (...); Martinez-Castellano, Francisco
Article. 10.1111/cge.14340. 2023
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon, Gholson J.; (...); Herr-Israel, Ellen
Article. 10.1038/s41431-023-01368-y. 2023
Further evidence of the role of microRNA in schizophrenia: a case report.
Sanjuan-Ortiz, Cecilia; (...); Iranzo-Tatay, Carmen
Article. 10.1097/YPG.0000000000000374. 2024
Genetic characteristics and extracolonic phenotypic manifestations in patients with familiar adenomatous polyposis.
Argumánez V; (...); Pons-Beltrán V
Article. 10.1016/j.gastrohep.2024.502266. 2024
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
Martinez-Rubio, Dolores; (...); Espinos, Carmen
Article. 10.3390/ijms242216400. 2023
Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.
Palacios-Diaz RD; (...); Évole-Buselli M
Article. 10.1111/pde.15716. 2024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern
Gabaldon-Albero, Alba; (...); Martinez, Francisco
Article. 10.3390/genes15060802. 2024
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra, Maria Alcazar; (...); Santos-Ocana, Carlos
Article. 10.1002/jimd.12776. 2024
Novel genotypic and phenotypic spectrum of PIGP deficiency associated to multiple congenital anomalies
Martin-Grau, Carla; (...); Martinez, Francisco
Meeting Abstract. 2024
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants
Mayo, Sonia; (...); Martinez, Francisco
Review. 10.3390/ijms24076100. 2023
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.
Pedrola Vidal, Laia; (...); Orellana Alonso, Carmen
Article. 10.3390/genes15050568. 2024
Triplication of PCDH19 gene as a potential novel disease mechanism associated to epilepsy phenotype resembling loss-of-function mutations
Martinez, Francisco; (...); Gabaldon Albero, Alba
Meeting Abstract. 2024
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.
Gabaldón-Albero A; (...); Martínez F
Article. 10.3390/genes15101312. 2024
Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases
Orellana, Carmen; (...); Martinez, Francisco
Article. 10.3390/ijms26031244. 2025